mtdna-curation

Preview curation evaluation without saving

Pure-function preview. Does NOT write to DB. Does NOT emit audit.

Used by frontend for live UI feedback as the geneticist fills in the curation form. Org boundary still enforced (session must belong to user's org) to prevent reconnaissance.

post/sessions/{session_id}/variants/{variant_idx}/mtdna-curation/preview

Request

  • Base URL: https://api.helena.bio (the document declares no server; this is the origin it was published from)
  • URL: https://api.helena.bio/sessions/{session_id}/variants/{variant_idx}/mtdna-curation/preview
  • Auth: HTTP bearer

Path parameters

session_idstring uuid required
variant_idxinteger required

Request body

mt_ps2_strengthstring nullable

PS2 (de novo) strength: VeryStrong/Strong/Moderate/Supporting

mt_ps3_evidencestring nullable

PS3 functional studies evidence (cybrid + ETC <20% + load >=60%)

mt_ps4_proband_countinteger nullable

PS4 unrelated proband count

mt_ps4_haplogroup_diversity_countinteger nullable

PS4 distinct top-level haplogroup count among probands

mt_pm6_strengthstring nullable

PM6 (de novo without maternity confirmation) strength

mt_pp1_maternal_member_countinteger nullable

PP1 maternal family member count

mt_pp1_homoplasmic_in_allboolean nullable

PP1 disqualifier: TRUE when variant is homoplasmic in all maternal members (segregation evidence cannot establish pathogenicity per ClinGen mtDNA VCEP v1.0.0; PP1 suppressed and Cat M7a audit fires).

mt_pp1_heteroplasmy_correlationboolean nullable

PP1 heteroplasmy correlates with disease severity

mt_pp4_etc_deficiencystring nullable

PP4 ETC enzyme deficiency evidence (<20% activity)

mt_bs2_strengthstring nullable

BS2 (heteroplasmy in healthy adult) strength: Strong or Supporting

mt_bs3_evidencestring nullable

BS3 functional studies evidence (no effect)

mt_bs4_evidencestring nullable

BS4 lack of segregation OR paternal segregation

mt_bp5_evidencestring nullable

BP5 mtDNA variant in nDNA-related disease case

Response

Successful Response

has_curated_flagsobject required

10 keys (ps2, ps3, ps4, pm6, pp1, pp4, bs2, bs3, bs4, bp5) -> bool. PP1 may be False even when populated if disqualifier (homoplasmic_in_all=TRUE) fires.

strength_enumsobject required

5 keys (ps2, pm6, bs2, ps4, pp1) -> derived strength string or None. ps4/pp1 strengths are inline-derived from counts.

pp1_disqualifiedboolean required

TRUE when PP1 evidence populated AND homoplasmic_in_all=TRUE. Triggers Cat M7a audit message.

curated_contributedboolean required

TRUE when at least one of the 10 has_curated flags is TRUE

emitted_curated_criteriastring[] required

Ordered list of criterion codes (e.g. 'PS3_Supporting', 'PP1_Moderate') emitted by curated evidence. Tier-suffix convention: bare = ACMG default per Richards 2015; explicit suffix = strength differs from default OR McCormick downgrade (PS3, BS3 always _Supporting).

Changes

No recorded changes to this operation across all 1 revision of this API.