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DeepDNA

by ai.deepdna
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Look up a variant

lookup_variant
Read-onlyIdempotent

One variant by dbSNP rsID: gene, star-allele or common name, alleles, functional effect, population frequency and sources. Optionally pass the genotype read at that position (e.g. from a raw DNA file) to get how many copies of the variant allele it holds. That count is not a phenotype, metabolizer or risk call.

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
rsidYesdbSNP identifier, e.g. rs4244285.
genotypeNoOptional. The genotype at this position, e.g. AG, A/G, or one letter on X, Y or MT. Not stored.

Schema Changelog

Changes observed during successful MCP inspections.

  1. Changed1 schema field changed
    • addedInput schema / properties / genotype
      Added value: +{
+  "description": "Optional. The genotype at this position, e.g. AG, A/G, or one letter on X, Y or MT. Not stored.",
+  "type": "string"
+}
  2. First observed

TDQS

Score is being calculated.

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