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clinvar-lookup

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Queries ClinVar for variant pathogenicity classifications, ClinGen VCEP curations, and somatic-vs-germline interpretations via REST API, weekly VCF, or bulk XML. Use when determining clinical significance, triangulating conflicting interpretations, or aggregating evidence against the ACMG/AMP framework with ClinGen SVI specifications.

When to use

• determining clinical significance
• triangulating conflicting interpretations
• aggregating evidence against the ACMG/AMP framework
• retrieving ClinVar VCV-level aggregate
• retrieving SCV-level submissions
• retrieving ClinGen VCEP overrides
• condition-stratified analysis
• variant-level reporting across all conditions

When not to use

• re-implementing classification
• variant interpretation framework details
• calibrated in-silico thresholds
• PVS1 decision-tree logic

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