Clinvar Database

This gives Claude programmatic access to ClinVar's variant pathogenicity database through NCBI's E-utilities API and FTP downloads. You can query by gene, genomic position, or clinical significance, parse XML/VCF/TSV formats, and annotate your variant calls with pathogenicity classifications. The skill includes interpretation guidelines for the star rating system and ACMG classifications, which matters because a single-submitter VUS means something very different from a three-star expert panel pathogenic call. Useful for clinical genomics pipelines where you need to flag patient variants against known disease associations, though you'll still need domain expertise to handle the inevitable conflicting interpretations.