bio-clinical-databases-clinvar-lookup
Queries ClinVar for variant pathogenicity classifications, ClinGen VCEP curations, and somatic-vs-germline interpretati…
Live
Open / InstallLast updated July 27, 2026
Description
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. A reusable SKILL.md agent skill by GPTomics.
Author
GPTomics
Platform
cli
Pricing model
free
Categories
Skills
Tags
skill
claude-skill
github
en
Capabilities
- 1,053 stars
- SKILL.md package