Skill UI

Provide REST API access to ClinPGx, the successor to PharmGKB, for querying gene-drug interactions, CPIC/DPWG/FDA guidelines, allele functions, and evidence that supports precision dosing and pharmacogenomics-driven clinical decisions.

Query gnomAD via GraphQL to retrieve allele frequencies, constraint scores, and loss-of-function annotations for population-informed variant interpretation and rare disease gene prioritization.

This skill provides querying capabilities for the 1000 Genomes Project dataset, covering 3,202 whole-genome-sequenced individuals on the GRCh38 assembly. It allows users to identify variants within a region, find specific individuals who carry defined genetic variants, or determine the relatedness between two named individuals. Results include allele frequencies (AF), AlphaMissense scores, and various clinical annotations. Use this tool for advanced genomic cohort analysis.