Helena Bioinformatics Carrier Status API

openapi: 3.2.0
info:
  title: Helix Insight - Variant Analysis Service Carrier Status API
  description: AI-powered variant analysis and interpretation service
  version: 0.1.0
tags:
- name: Carrier Status
paths:
  /sessions/{session_id}/carriers:
    get:
      tags:
      - Carrier Status
      summary: Get carrier status findings
      description: 'Return healthy carrier findings for a session.


        Carrier types:

        - AR_CARRIER: Heterozygous P/LP in autosomal recessive gene (not compound het)

        - XL_CARRIER: Female heterozygous P/LP in X-linked recessive gene


        Results are pre-computed by Stage 6 (Reproductive Risk Annotation)

        in the variant analysis pipeline. This endpoint reads from DuckDB.


        Use force=true to re-run detection.'
      operationId: get_carrier_status_sessions__session_id__carriers_get
      parameters:
      - name: session_id
        in: path
        required: true
        schema:
          type: string
          format: uuid
          title: Session Id
      - name: force
        in: query
        required: false
        schema:
          type: boolean
          description: Force re-run of carrier detection
          default: false
          title: Force
        description: Force re-run of carrier detection
      responses:
        '200':
          description: Successful Response
          content:
            application/json:
              schema:
                $ref: '#/components/schemas/CarrierResponseSchema'
        '422':
          description: Validation Error
          content:
            application/json:
              schema:
                $ref: '#/components/schemas/HTTPValidationError'
components:
  schemas:
    HTTPValidationError:
      properties:
        detail:
          items:
            $ref: '#/components/schemas/ValidationError'
          type: array
          title: Detail
      type: object
      title: HTTPValidationError
    ValidationError:
      properties:
        loc:
          items:
            anyOf:
            - type: string
            - type: integer
          type: array
          title: Location
        msg:
          type: string
          title: Message
        type:
          type: string
          title: Error Type
        input:
          title: Input
        ctx:
          type: object
          title: Context
      type: object
      required:
      - loc
      - msg
      - type
      title: ValidationError
    CarrierResponseSchema:
      properties:
        session_id:
          type: string
          format: uuid
          title: Session Id
        total_carriers:
          type: integer
          title: Total Carriers
        ar_carrier_count:
          type: integer
          title: Ar Carrier Count
        xl_carrier_count:
          type: integer
          title: Xl Carrier Count
        carriers:
          items:
            $ref: '#/components/schemas/CarrierResultSchema'
          type: array
          title: Carriers
      type: object
      required:
      - session_id
      - total_carriers
      - ar_carrier_count
      - xl_carrier_count
      - carriers
      title: CarrierResponseSchema
      description: Response with carrier findings.
    CarrierResultSchema:
      properties:
        variant_idx:
          type: integer
          title: Variant Idx
        gene_symbol:
          type: string
          title: Gene Symbol
        carrier_type:
          type: string
          title: Carrier Type
          description: AR_CARRIER or XL_CARRIER
        inheritance_mode:
          anyOf:
          - type: string
          - type: 'null'
          title: Inheritance Mode
        disease_name:
          anyOf:
          - type: string
          - type: 'null'
          title: Disease Name
        clinical_note:
          type: string
          title: Clinical Note
        confidence:
          type: string
          title: Confidence
          description: HIGH or MODERATE
        acmg_class:
          anyOf:
          - type: string
          - type: 'null'
          title: Acmg Class
        chromosome:
          anyOf:
          - type: string
          - type: 'null'
          title: Chromosome
        position:
          anyOf:
          - type: integer
          - type: 'null'
          title: Position
        genotype:
          anyOf:
          - type: string
          - type: 'null'
          title: Genotype
        hgvs_protein:
          anyOf:
          - type: string
          - type: 'null'
          title: Hgvs Protein
        transcript_id:
          anyOf:
          - type: string
          - type: 'null'
          title: Transcript Id
        transcript_representations:
          anyOf:
          - additionalProperties: true
            type: object
          - type: 'null'
          title: Transcript Representations
        hgvs_cdna:
          anyOf:
          - type: string
          - type: 'null'
          title: Hgvs Cdna
        rsid:
          anyOf:
          - type: string
          - type: 'null'
          title: Rsid
        global_af:
          anyOf:
          - type: number
          - type: 'null'
          title: Global Af
        review_stars:
          anyOf:
          - type: integer
          - type: 'null'
          title: Review Stars
      type: object
      required:
      - variant_idx
      - gene_symbol
      - carrier_type
      - clinical_note
      - confidence
      title: CarrierResultSchema
      description: Single carrier finding.
  securitySchemes:
    HTTPBearer:
      type: http
      scheme: bearer