bio-clinical-databases-clinvar-lookup

What problem does it solve?

ClinVar variant data is essential for assessing clinical significance and disease associations, but retrieving accurate interpretations across APIs and local VCFs can be time-consuming without automation.

Core Features & Use Cases

• REST-API lookups for ClinVar classifications, review status, and disease notes.
• Local VCF querying with parsed CLNSIG/CLNREVSTAT/CLNDN, enabling offline workflows.
• Use Case: Prioritize variants in diagnostic pipelines by retrieving pathogenicity and associated diseases for a given variant or gene.

Quick Start

Tell your AI agent to look up a ClinVar variant by ID or HGVS and return its clinical significance and disease associations.