ClinVar Preview
Overview
ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed health status, and the history of that interpretation.
Publication
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth R Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang, Karen Karapetyan, Kenneth Katz, Chunlei Liu, Zenith Maddipatla, Adriana Malheiro, Kurt McDaniel, Michael Ovetsky, George Riley, George Zhou, J Bradley Holmes, Brandi L Kattman, Donna R Maglott, ClinVar: improving access to variant interpretations and supporting evidence, Nucleic Acids Research, 46, Issue D1, 4 January 2018, Pages D1062–D1067, https://doi.org/10.1093/nar/gkx1153
ClinVar Preview relates to the new ClinVar XML format introduced in 2024. Following sections describe the parsing and subsequent json format provided by Illumina Connected Annotations.
Parsing
ClinVar recommends using the VCV XML file because it contains comprehensive information.
Parsing is simplified by using the XSD file generation. Command for generating XSD file
xsd ClinVar_VCV.xsd /n:VariationArchive /cOverall XML to JSON mapping
variantType
string
sequence ontology
VariationArchive.VariationType
accession
string
VCV Id from ClinVar
VariationArchive.Accession
version
string
VCV Id version
VariationArchive.Version
recordType
string
classified
VariationArchive.RecordType
dateLastUpdated
date time
date VCV was last updated
VariationArchive.DateLastUpdated
chromosome
string
chromosome (large variants only)
VariationArchive.ClassifiedRecord.SimpleAllele.Location.SequenceLocation.Chr
begin
number
start position of the variant (large variants only)
VariationArchive.ClassifiedRecord.SimpleAllele.Location.SequenceLocation.positionVCF
end
number
end position of the variant (large variants only)
VariationArchive.ClassifiedRecord.SimpleAllele.Location.SequenceLocation.displayStop or calculated
refAllele
string
reference alleles (small variants only)
VariationArchive.ClassifiedRecord.SimpleAllele.Location.SequenceLocation.referenceAlleleVCF
altAllele
string
alternate alleles (small variants only)
VariationArchive.ClassifiedRecord.SimpleAllele.Location.SequenceLocation.alternateAlleleVCF
rcvs
list
list of RCV objects
VariationArchive.ClassifiedRecord.RCVList
classifications
list
list of classification objects
VariationArchive.ClassifiedRecord.Classifications
clinicalAssertions
list
list of clinicalAssertion objects
VariationArchive.ClassifiedRecord.ClinicalAssertionList
Variation fields
** XML **
** JSON **
Location fields
** JSON Small Variant**
note the alleles are trimmed
** JSON Large Variant**
RCVs
RCV Object from XML path VariationArchive.ClassifiedRecord.RCVList
accession
string
VCV Id from ClinVar
RCVList.RCVAccession.Accession
version
string
VCV Id version
RCVList.RCVAccession.Accession
classifications
list
list of classification objects
RCVList.RCVAccession.RCVClassifications
classifiedConditions
list
list of classified conditions
RCVList.RCVAccession.ClassifiedConditionList
** XML **
** JSON **
Classifications
Classification object from XML path VariationArchive.ClassifiedRecord.RCVList.RCVAccession.RCVClassifications classification can be of following types:
germlineClassificationsomaticClinicalImpactoncogenicityClassification
Germline Classification
Classification object from XML path VariationArchive.ClassifiedRecord.RCVList.RCVAccession.RCVClassifications.GermlineClassification
reviewStatus
string
review status
GermlineClassification.ReviewStatus
descriptions
list
list of classification objects
GermlineClassification.Description
descriptions[].classification
string
classification
GermlineClassification.Description.Value
descriptions[].dateLastEvaluated
date
date last evaluated
GermlineClassification.Description.DateLastEvaluated
** XML **
** JSON **
Classified Conditions
Classified conditions object from XML path VariationArchive.ClassifiedRecord.RCVList.RCVAccession.ClassifiedConditionList
condition
string
VCV Id from ClinVar
ClassifiedConditionList.ClassifiedCondition.Value
db
string
list of classification objects
ClassifiedConditionList.ClassifiedCondition.DB
id
string
classification
ClassifiedConditionList.ClassifiedCondition.ID
** XML **
** JSON **
Classifications
Classification object from XML path VariationArchive.ClassifiedRecord.Classifications classification can be of following types:
germlineClassificationsomaticClinicalImpactoncogenicityClassification
** XML **
** JSON **
Germline Classification
Classification object from XML path VariationArchive.ClassifiedRecord.Classifications.GermlineClassification
classification
string
classification
GermlineClassification.Description
reviewStatus
string
review status
GermlineClassification.ReviewStatus
dateLastEvaluated
date
date last evaluated
GermlineClassification.DateLastEvaluated
mostRecentSubmission
date
date last evaluated
GermlineClassification.MostRecentSubmission
pubMedIds
list
list of PubMedIds
GermlineClassification.Citation.ID.Value
conditions
list
list of conditions
GermlineClassification.ConditionList
** XML **
** JSON **
Conditions
Conditions object from XML path VariationArchive.ClassifiedRecord.Classifications.GermlineClassification.ConditionList
type
string
classification
ConditionList.TraitSet.Type
contributesToAggregateClassification
True or blank
contributes to aggregate classifcation
ConditionList.TraitSet.ContributesToAggregateClassification
traits
list
trait objects
ConditionList.TraitSet.Trait
traits[].id
date
date last evaluated
ConditionList.TraitSet.Trait
traits[].name
object
trait name object
ConditionList.TraitSet.Trait
traits[].name.value
string
preferred trait name
ConditionList.TraitSet.Trait.Name.ElementValue.Type
traits[].name.xRefs
list
list of cross references
ConditionList.TraitSet.Trait.Name.XRef
traits[].name.xRefs[].db
string
preferred name cross reference database
ConditionList.TraitSet.Trait.Name.XRef.DB
traits[].name.xRefs[].id
string
preferred name cross reference identifier
ConditionList.TraitSet.Trait.Name.XRef.ID
** XML **
** JSON **
Clinical Assertions
Conditions object from XML path VariationArchive.ClassifiedRecord.ClinicalAssertionList
accession
string
SCV Id from ClinVar
ClinicalAssertionList.ClinVarAccession.Accession
pubMedIds
list
list of PubMedIds
ClinicalAssertionList.ClinicalAssertion.AttributeSet.Citation.ID.Value
** XML **
** JSON **
Known Issues
Known Issues
Entries with following missing/incorrect information are skipped
Invalid Ref Allele (example
VCV000437934)Invalid Alt Allele (example
VCV000006637)Following variant types are not supported:
Variation(exampleVCV000001101)fusion(exampleVCV000015269)unknown(exampleVCV000017564)protein only(exampleVCV000132152)Complex(exampleVCV000221337)Translocation(exampleVCV000267801)no_sequence_alteration(exampleVCV000010504)
Only records of type
classifiedare included [VCV with typeincludedis skipped (exampleVCV000431749)]Records with missing genomic location are skipped (example
VCV000000254)
Download URLs
JSON Output
small variants:
large variants:
chromosome
string
Chromosome
begin
integer
start position of variant
end
integer
end of position of variant
refAllele
string
altAllele
string
accession
string
ClinVar ID
version
string
ClinVar version
variantType
string
variant type
recordType
string
record type
dateLastUpdated
string
yyyy-MM-dd
rcvs
array
RCV objects associated to this VCV
classifications
array
classifications for this VCV
clinicalAssertions
array
SCV objects associated to this VCV
isAlleleSpecific
bool
true when the current variant alternate allele matches the ClinVar alternate allele
Variant Types
copy_number_gain
copy_number_loss
deletion
delins
duplication
insertion
inversion
SNV
tandem_duplication
Review Statuses
criteria provided, conflicting classifications
criteria provided, multiple submitters, no conflicts
criteria provided, single submitter
no assertion criteria provided
no classification provided
practice guideline
reviewed by expert panel
classification
Benign
Likely benign
Pathogenic
Uncertain significance
Likely pathogenic
Benign/Likely benign
not provided
conflicting data from submitters
Pathogenic/Likely pathogenic
association
Conflicting classifications of pathogenicity
Pathogenic; risk factor
risk factor
other
drug response
Uncertain significance; Pathogenic/Likely pathogenic
Likely pathogenic, low penetrance
Pathogenic; Affects
Pathogenic, low penetrance
protective
Affects
Benign; other
Conflicting classifications of pathogenicity; other
Conflicting classifications of pathogenicity; association
Uncertain risk allele
Uncertain significance; risk factor
Likely pathogenic; risk factor
Likely benign; association
Likely risk allele
Pathogenic/Likely pathogenic; other
Pathogenic; other
Pathogenic/Likely pathogenic/Pathogenic, low penetrance
Pathogenic/Likely pathogenic; risk factor
Benign/Likely benign; risk factor
Uncertain significance/Uncertain risk allele
Pathogenic; association; protective
protective; risk factor
Benign/Likely benign; other; risk factor
Benign/Likely benign; association
Benign; association
Affects; association; other
Pathogenic; protective
Conflicting classifications of pathogenicity; drug response; other
Conflicting classifications of pathogenicity; drug response
Benign; drug response
Likely pathogenic; other
Conflicting classifications of pathogenicity; protective
Pathogenic/Likely pathogenic; drug response
Benign/Likely benign; other
Likely pathogenic/Likely risk allele
Uncertain risk allele; protective
association not found
Affects; association
Uncertain significance; association
Likely benign; other
Uncertain significance; other
Conflicting classifications of pathogenicity; association; risk factor Pathogenic;
association
Benign; risk factor
Conflicting classifications of pathogenicity; other; risk factor
Pathogenic/Likely risk allele; risk factor
Uncertain significance; drug response
Conflicting classifications of pathogenicity; risk factor
other; risk factor
Pathogenic/Likely pathogenic/Likely risk allele
Likely pathogenic; drug response
Conflicting classifications of pathogenicity; Affects
association; drug response; risk factor
Pathogenic; drug response
Affects; risk factor
Pathogenic; drug response; other
Likely pathogenic; protective
confers sensitivity
Likely pathogenic; association
Benign; Affects
Likely pathogenic; Affects
Uncertain risk allele; risk factor
drug response; risk factor
Pathogenic/Likely risk allele
Likely benign; drug response; other
Benign/Likely benign; drug response
Benign/Likely benign; drug response; other
drug response; other
association; drug response
Pathogenic; confers sensitivity
association; risk factor
Pathogenic/Pathogenic, low penetrance; other
Benign; confers sensitivity
confers sensitivity; other
Likely pathogenic/Pathogenic, low penetrance
Likely benign; risk factor
Building the supplementary files
There are 2 ways of building your own OMIM supplementary files using SAUtils.
The first way is to use SAUtils command's subcommands clinvar. The ClinVar .nsa and .nsi for Illumina Connected Annotations can be built using the SAUtils command's clinvar subcommand.
The second way is to use SAUtils command's subcommands AutoDownloadGenerate. To use AutoDownloadGenerate, read more in SAUtils section.
Using clinvar subcommands and source data files
Two input .xml files and a .version file are required in order to build the .nsa and .nsi file. You should have the following files:
The version file is a json file with the following format.
You have to adjust the version and release date according to the actual date of the ClinVar.
Here is a sample execution:
Last updated
Was this helpful?

