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API Endpoint: Add custom annotations programmatically #134

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MattWellie opened this issue Apr 21, 2022 · 0 comments
Open

API Endpoint: Add custom annotations programmatically #134

MattWellie opened this issue Apr 21, 2022 · 0 comments
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@MattWellie
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MattWellie commented Apr 21, 2022

AIP is an example of a 3rd party (relative to the Seqr front-end and main seqr-loading pipeline) source of annotations. The ideal path for this additional prioritisation could be:

  1. Core pipeline runs, generating annotated joint-call
  2. Seqr is loaded with the annotated joint-call
  3. AIP runs, identifying variants to prioritise
  4. Prioritised variants are annotated in Seqr using flags

Step 4 would enable all analysis to be done in Seqr, inc. allowing a user to filter to AIP flagged variants only.

Assumptions:

  • we create a flag to use in the Seqr interface, and we expect that the flag to use would be sent as part of the API call/payload
    • are flags in Seqr represented using an int/id, or are they plaintext? e.g. is the 'flag' AIP_identified represented as that exact String, a UID, or something else
  • through the API we want to trigger addition of a flag to the variant SQL DB, rather than interference with the ES index. Hopefully we can trigger the built-in process instead of having to recreate it

Params:

  • Project ID (required to locate the variant within the correct joint-call)
  • Variant ID
    • how is a variant uniquely identified? The URL for a variant page is chr-pos-ref-alt, but unsure if those are separate fields within the db
  • family ID
  • flag to use (String, ID... see above)

These could be sent as a json string, or separate URL parameters, happy to go with any guidance here

Return:

  • on success: nothing/200
  • on failure: 4XX & description, e.g. variant/family not found, flag doesn't exist
@MattWellie MattWellie added the AIP label Apr 21, 2022
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