Query NCBI ClinVar via the E-utilities API or FTP for the clinical significance (pathogenicity) of human germline genetic variants, searching by gene, variant, condition, or genomic position and interpreting ACMG/AMP classifications and review-status star ratings.
Install
npx skills add AlterLab-IEU/AlterLab-Academic-Skills --skill alterlab-clinvarnpx skills add AlterLab-IEU/AlterLab-Academic-Skills --skill alterlab-clinvar -a claude-code -gnpx skills add AlterLab-IEU/AlterLab-Academic-Skills --skill alterlab-clinvar -a codex -ggemini skills install https://github.com/AlterLab-IEU/AlterLab-Academic-Skills.git --path skills/databases/alterlab-clinvargh skill install AlterLab-IEU/AlterLab-Academic-Skills alterlab-clinvargit clone --depth 1 https://github.com/AlterLab-IEU/AlterLab-Academic-Skills /tmp/AlterLab-IEU__AlterLab-Academic-Skills
mkdir -p ~/.claude/skills ~/.agents/skills
cp -R /tmp/AlterLab-IEU__AlterLab-Academic-Skills/skills/databases/alterlab-clinvar ~/.claude/skills/alterlab-clinvar # Claude Code
cp -R /tmp/AlterLab-IEU__AlterLab-Academic-Skills/skills/databases/alterlab-clinvar ~/.agents/skills/alterlab-clinvar # Codex, Cursor, Gemini CLI, Copilot, OpenCode