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API · Changes

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Update API authored Apr 26, 2023 by Neethu Shah's avatar Neethu Shah
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API.md
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...@@ -2,11 +2,13 @@ ...@@ -2,11 +2,13 @@
### Assertion API for Richards et.al., 2015 ACMG specifications ### Assertion API for Richards et.al., 2015 ACMG specifications
#### Introduction
Assertion API endpoint for computing variant pathogenicity given a set of evidence counts and assertion criteria. The specification used here is based on _Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology_. Richards _et.al_ (<https://pubmed.ncbi.nlm.nih.gov/25741868/>). For ClinGen VCEP specific assertion criteria refer the CSpec Registry - <https://cspec.genome.network> Assertion API endpoint for computing variant pathogenicity given a set of evidence counts and assertion criteria. The specification used here is based on _Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology_. Richards _et.al_ (<https://pubmed.ncbi.nlm.nih.gov/25741868/>). For ClinGen VCEP specific assertion criteria refer the CSpec Registry - <https://cspec.genome.network>
**Summary of Sequence Variant Interpretation Reasoner service route which interprets a variant pathogenicity assertion from Evidence and** [**Criteria Specification**](https://cspec.genome.network) **Summary of Sequence Variant Interpretation Reasoner service route which interprets a variant pathogenicity assertion from Evidence and** [**Criteria Specification**](https://cspec.genome.network)
1. Request to the engine service _assertion_ route. #### GET Request to the engine service _assertion_ route.
> **Route** for the assertion engine is - <https://cspec.genome.network/cspec/eng/svi/assertion>. This is a GET route with a payload (see next). > **Route** for the assertion engine is - <https://cspec.genome.network/cspec/eng/svi/assertion>. This is a GET route with a payload (see next).
...@@ -144,7 +146,7 @@ Assertion API endpoint for computing variant pathogenicity given a set of eviden ...@@ -144,7 +146,7 @@ Assertion API endpoint for computing variant pathogenicity given a set of eviden
> } > }
> ``` > ```
> POST Method Alternative #### POST Request to the engine service _assertion_ route.
> >
> ```plaintext > ```plaintext
> const SimpleJsonReq = require( "@brl/brl-gb/client/simple/simpleJsonReq" ).SimpleJsonReq > const SimpleJsonReq = require( "@brl/brl-gb/client/simple/simpleJsonReq" ).SimpleJsonReq
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