clinvar-database

Name: clinvar-database
Author: lamm-mit

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.

查看源碼 bioinformatics

maintainer

lamm-mit

更新於 3/14/2026

星標

156

分支

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.

安裝

$ install --globalskills.sh

使用

安裝後，您可以通過在終端運行以下命令來使用此技能：

skills use clinvar-database