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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.
maintainer
davila7
更新于 1/20/2026
星标
17577
分支
1576
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.
安装
$ install --globalskills.sh
使用
安装后，您可以通过在终端运行以下命令来使用此技能：
skills use clinvar-database