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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
Mis à jour 2/13/2026
Étoiles
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
Utilisation
Après l'installation, vous pouvez utiliser ce skill en exécutant la commande suivante dans votre terminal :
skills use bio-clinical-databases-clinvar-lookup