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API · Changes

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Update API authored Jun 07, 2023 by Neethu Shah's avatar Neethu Shah
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...@@ -147,7 +147,7 @@ Assertion API endpoint for computing variant pathogenicity given a set of eviden ...@@ -147,7 +147,7 @@ Assertion API endpoint for computing variant pathogenicity given a set of eviden
> ``` > ```
#### POST Request to the engine service _assertion_ route. #### 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
> let baseUrl = "https://cspec.genome.network/cspec/eng/svi" > let baseUrl = "https://cspec.genome.network/cspec/eng/svi"
...@@ -164,17 +164,17 @@ Assertion API endpoint for computing variant pathogenicity given a set of eviden ...@@ -164,17 +164,17 @@ Assertion API endpoint for computing variant pathogenicity given a set of eviden
### Assertion API for v4 ClinGen specifications ( to be published ) ### Assertion API for v4 ClinGen specifications ( to be published )
#### Introduction #### Introduction
Assertion API endpoint for computing variant pathogenicity given a set of points for each of the criteria codes as defined in the initial draft of v4 guidelines - Technical standards for sequence variant classification v4.0 - ACMG+AMP+CAP+ClinGen. **Note** that the specification codes, point scale, etc. are subject to change. Details on allowed criteria codes, applicable evidence category and evidence lines can be found here -
[**v4 documentation**](https://genboree.org/gitlab/clingen/cspec/cspec-registry/-/wikis/ACMG-AMP-CAP-ClinGen-v4-Specifications) Assertion API endpoint for computing variant pathogenicity given a set of points for each of the criteria codes as defined in the initial draft of v4 guidelines - Technical standards for sequence variant classification v4.0 - ACMG+AMP+CAP+ClinGen. **Note** that the specification codes, point scale, etc. are subject to change. Details on allowed criteria codes, applicable evidence category and evidence lines can be found here - [**v4 documentation**](https://genboree.org/gitlab/clingen/cspec/cspec-registry/-/wikis/ACMG-AMP-CAP-ClinGen-v4-Specifications)
#### POST Request to the engine service _assertion_ route by type. #### POST Request to the engine service _assertion_ route by type.
- Route - `/assertion/type/{typeId}` where `typeId` can be either acmg-v3 or acmg-v4. - Route - `/assertion/type/{typeId}` where `typeId` can be either acmg-v3 or acmg-v4.
- Example `https://genboree.org/cspec/eng/svi/assertion/type/acmg-v4` - Example `https://genboree.org/cspec/eng/svi/assertion/type/acmg-v4` A **payload** contains two required fields - evidence and cspecRuleSetUrl. An example of a payload object is given below:
A **payload** contains two required fields - evidence and cspecRuleSetUrl. An example of a payload object is given below:
>
> ```plaintext > ```plaintext
> let payload = { > let payload = {
> cspecRuleSetUrl: 'https://genboree.org/cspec/RuleSet/id/1733626596', > cspecRuleSetUrl: 'https://genboree.org/cspec/RuleSet/id/1765820331',
> // A specific ruleset defined for the v4. > // A specific ruleset defined for the v4.
> evidence: { > evidence: {
> 'POP_FRQ_-3': 1, > 'POP_FRQ_-3': 1,
...@@ -199,8 +199,9 @@ A **payload** contains two required fields - evidence and cspecRuleSetUrl. An ex ...@@ -199,8 +199,9 @@ A **payload** contains two required fields - evidence and cspecRuleSetUrl. An ex
> } > }
> resp = await jsClient.doPost('/assertion/type/acmg-v4', payload, reqConfig) > resp = await jsClient.doPost('/assertion/type/acmg-v4', payload, reqConfig)
> console.log(global.brl.insp(global.brl.dot.pick('data', resp.data))) > console.log(global.brl.insp(global.brl.dot.pick('data', resp.data)))
> ```
``` ```plaintext
{ {
comment: 'Rule3 was met and the total point = 1', comment: 'Rule3 was met and the total point = 1',
finalCall: 'Uncertain Significance', finalCall: 'Uncertain Significance',
......
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