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clinvar-database

Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.

hxk622
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hxk622
Atualizado 1/19/2026
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quick start

Installation and usage

Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.

Instalação
$ install --globalskills.sh
Uso

Depois de instalar, você pode usar esta skill executando o seguinte comando no terminal:

skills use clinvar-database