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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.
maintainer
GPTomics
اپ ڈیٹ ہوا 2/13/2026
اسٹارز
471
فورکس
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.
انسٹالیشن
$ install --globalskills.sh
استعمال
انسٹال کرنے کے بعد، آپ یہ اسکل ٹرمینل میں درج ذیل کمانڈ چلا کر استعمال کر سکتے ہیں:
skills use bio-clinical-databases-clinvar-lookup