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bio-clinical-databases-clinvar-lookup

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Query ClinVar for variant pathogenicity classifications, review status, and disease associations via REST API or local VCF. Use when determining clinical significance of variants for diagnostic or research purposes.

When to use

• Query ClinVar for variant pathogenicity classifications
• Retrieve review status and disease associations
• Determine clinical significance of variants
• Query by variant ID, gene symbol, or HGVS notation
• Query local ClinVar VCF for offline lookups
• Parse ClinVar INFO fields into significance categories
• Batch annotate VCF files with ClinVar data

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