home/categories/computational-chemistry/gptomics-bioskills-clinical-databases-clinvar-lookup-skill-md
computational-chemistryresearch
bio-clinical-databases-clinvar-lookup
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.
maintainer
GPTomics
Updated 2/13/2026
Stars
471
Forks
81
quick start
Installation and usage
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.
Installation
$ install --globalskills.sh
Usage
Once installed, you can use this skill by running the following command in your terminal:
skills use bio-clinical-databases-clinvar-lookup