clinvar-database

Name: clinvar-database
Author: wu-yc

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.

View Source bioinformatics

maintainer

wu-yc

Updated 3/6/2026

Stars

950

Forks

140

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.

Installation

$ install --globalskills.sh

Usage

Once installed, you can use this skill by running the following command in your terminal:

skills use clinvar-database