clinvar-database

Query ClinVar clinical significance using E-utilities APIs (esearch, esummary, efetch) to retrieve variant data by gene, condition, or variant identifier. Results include VCV/RCV records with ACMG/AMP classifications and review status for interpretation.

Yes. Integrate ClinVar data into VCF annotation pipelines by retrieving clinical significance, review status, and cross-references via E-utilities or FTP bulk downloads, then map results to variant calls for complete pathogenicity annotation.

ClinVar bulk downloads provide XML VCV/RCV records, VCF format, and tab-delimited outputs via FTP. Each format preserves clinical significance, review status, and literature linkage needed for variant interpretation workflows.

Use E-utilities API endpoints (esearch, esummary, efetch, elink) for programmatic access to ClinVar variant records, enabling integration into automated pipelines for gene-centric, condition-centric, or variant-centric searches.

VCV (Variation) records represent unique variants with aggregated clinical significance; RCV (RCVaccession) records represent individual ClinVar submissions with specific review status and evidence. Both are accessible via E-utilities for comprehensive variant interpretation.

ClinVar provides ACMG/AMP classification data directly, so you can query and apply existing classifications without prior expertise. The Skill handles retrieval and annotation; interpretation guidelines are embedded in the returned records.