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Data Model

The ClinVar-GKM release file organizes data into bundle sections, each containing objects of a specific class. These classes form a directed graph of relationships — variants reference alleles, alleles reference locations, statements reference propositions, and so on.

This page provides a visual overview of how the classes relate to each other, with links to detailed documentation for each class.


Bundle Section Map

The release bundle is a single JSON object of named sections — each section is a dictionary mapping a typed id to one object. Objects link across sections with #/section/id JSON pointers. The map below shows every section, its object type, an example id, and its outgoing references. See ID References for the full pointer catalog.

The map renders at full size in a scrollable frame — scroll within it to follow the reference chain from statements down to VRS sequence references. Each drawer links to that section's class reference page.

Reading the map:

  • { } key is the section name — the JSON key under which that section's dictionary of objects lives
  • The pill is an example object id (the dictionary key within the section)
  • field → #/section/ lines are the outgoing cross-section references an object in that section carries
  • Solid arrows trace the primary reference flow between section clusters; dashed arrows are optional or back-references (e.g., evidence items pointing back at statements)
  • The four *-proposition sections are datatype-homogeneous delivery groups of the proposition content, keyed by proposition type

Variation Classes

These classes represent the variant and its genomic context. VRS types (SequenceReference, Location, Allele) use their upstream GA4GH schemas directly. ClinVar-specific profiles are documented under Variations.

Class Bundle Section Key Pattern Description
SequenceReference sequenceReference SQ.{digest} Reference sequence with refget accession, molecule type, and assembly
Location location ga4gh:SL.{digest} Position or range on a sequence reference
Allele allele ga4gh:VA.{digest} Specific sequence change at a location
Gene gene ncbigene:{id} Gene MappableConcept with NCBI Gene primaryCoding and HGNC mapping
ClinvarCategoricalVariant variation clinvar:{id} ClinVar variation with Cat-VRS representation and extensions

See Variations for the full variant type hierarchy and extension documentation.


Supporting Classes

These classes represent the conditions, submitters, and propositions that support classification statements. Conditions and submitters use upstream GA4GH types. Proposition content is delivered in four datatype-homogeneous sections keyed by proposition type — together they hold all 13 ClinvarProposition types.

Class Bundle Section Key Pattern Description
Condition condition clinvar.trait:{id} Disease or phenotype with MedGen coding and cross-references
ConditionSet conditionSet clinvar.traitset:{id} Grouping of conditions with AND/OR membership operator
Therapy therapy clinvar.therapy:{sha256} Drug therapy (content-addressed); object of therapeutic propositions via #/therapy/
TherapyGroup therapyGroup clinvar.therapygroup:{sha256} Combination therapy whose concepts reference #/therapy/ members
Submitter submitter clinvar.submitter:{id} Submitting organization
ClinvarProposition varcond-proposition {scv_id}-{CODE} Variant–condition propositions: Pathogenicity, Clinical Significance, Diagnostic, Prognostic
ClinvarProposition vartumor-proposition {scv_id}-ONCO Variant–tumor-type Oncogenicity propositions
ClinvarProposition vartherapy-proposition {scv_id}-TR Variant–therapy Therapeutic Response propositions
ClinvarProposition varcustom-proposition {scv_id}-{CODE} ClinVar-specific proposition types (Risk Factor, Protective, Drug Response, …)

See Propositions for the full type/code/predicate reference and ID References for how the delivery groups are keyed.


Statement Classes

These classes represent classification statements at different levels of aggregation. All are profiles of the VA-Spec Statement type documented under Statements.

Class Bundle Section Key Pattern Description
ClinvarScvStatement scv clinvar.submission:{id}.{ver} Submitted classification
ClinvarVcvStatement vcv {vcv}-{group}-{prop}-{level} Variant-level aggregate
ClinvarRcvStatement rcv {rcv}-{group}-{prop}-{level} Condition-level aggregate
ClinvarSomaticEvidenceLine evidenceLine {scv_id}.{ver} / {agg_id}.contributing Evidence line referenced via hasEvidenceLines

See Statements for the aggregation structure and Evidence Lines for the somatic tier mapping.