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bio-clinical-databases-clinvar-lookup

Query ClinVar for variant pathogenicity classifications, review status, and disease associations via REST API or local VCF. Use when determining clinical significance of variants for diagnostic or research purposes.

GPTomics
maintainer
GPTomics
آخر تحديث 2/13/2026
النجوم
471
التفرعات
81
quick start

Installation and usage

Query ClinVar for variant pathogenicity classifications, review status, and disease associations via REST API or local VCF. Use when determining clinical significance of variants for diagnostic or research purposes.

التثبيت
$ install --globalskills.sh
الاستخدام

بعد التثبيت، يمكنك استخدام هذه المهارة بتشغيل الأمر التالي في الطرفية:

skills use bio-clinical-databases-clinvar-lookup