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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-100200852-C-CCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100200852&ref=C&alt=CCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100200852,
"ref": "C",
"alt": "CCT",
"effect": "frameshift_variant",
"transcript": "NM_001282717.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1947_1948dupCT",
"hgvs_p": "p.Tyr650fs",
"transcript": "NM_001282717.2",
"protein_id": "NP_001269646.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1226,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000615138.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282717.2"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1947_1948dupCT",
"hgvs_p": "p.Tyr650fs",
"transcript": "ENST00000615138.5",
"protein_id": "ENSP00000477973.1",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 1226,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001282717.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615138.5"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1947_1948dupCT",
"hgvs_p": "p.Tyr650fs",
"transcript": "ENST00000317296.9",
"protein_id": "ENSP00000319318.5",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 1225,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317296.9"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1947_1948dupCT",
"hgvs_p": "p.Tyr650fs",
"transcript": "ENST00000426455.5",
"protein_id": "ENSP00000400359.1",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 1225,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426455.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR3P",
"gene_hgnc_id": null,
"hgvs_c": "n.3325_3326dupAG",
"hgvs_p": null,
"transcript": "ENST00000328453.9",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000328453.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "n.2364_2365dupCT",
"hgvs_p": null,
"transcript": "ENST00000496157.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000496157.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR3P",
"gene_hgnc_id": null,
"hgvs_c": "n.2639_2640dupAG",
"hgvs_p": null,
"transcript": "ENST00000543273.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000543273.5"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1947_1948dupCT",
"hgvs_p": "p.Tyr650fs",
"transcript": "NM_001375438.1",
"protein_id": "NP_001362367.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1226,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375438.1"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1947_1948dupCT",
"hgvs_p": "p.Tyr650fs",
"transcript": "ENST00000938222.1",
"protein_id": "ENSP00000608281.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1226,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938222.1"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1947_1948dupCT",
"hgvs_p": "p.Tyr650fs",
"transcript": "ENST00000938225.1",
"protein_id": "ENSP00000608284.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1226,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938225.1"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1947_1948dupCT",
"hgvs_p": "p.Tyr650fs",
"transcript": "NM_001282716.1",
"protein_id": "NP_001269645.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1225,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282716.1"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1947_1948dupCT",
"hgvs_p": "p.Tyr650fs",
"transcript": "NM_012447.4",
"protein_id": "NP_036579.2",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1225,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012447.4"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1947_1948dupCT",
"hgvs_p": "p.Tyr650fs",
"transcript": "ENST00000938223.1",
"protein_id": "ENSP00000608282.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1225,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938223.1"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1830_1831dupCT",
"hgvs_p": "p.Tyr611fs",
"transcript": "ENST00000938224.1",
"protein_id": "ENSP00000608283.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1187,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938224.1"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1773_1774dupCT",
"hgvs_p": "p.Tyr592fs",
"transcript": "NM_001282718.2",
"protein_id": "NP_001269647.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 1167,
"cds_start": 1775,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282718.2"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1773_1774dupCT",
"hgvs_p": "p.Tyr592fs",
"transcript": "ENST00000394018.6",
"protein_id": "ENSP00000377586.2",
"transcript_support_level": 2,
"aa_start": 592,
"aa_end": null,
"aa_length": 1167,
"cds_start": 1775,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394018.6"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1773_1774dupCT",
"hgvs_p": "p.Tyr592fs",
"transcript": "ENST00000620100.5",
"protein_id": "ENSP00000484098.1",
"transcript_support_level": 5,
"aa_start": 592,
"aa_end": null,
"aa_length": 1167,
"cds_start": 1775,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620100.5"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1947_1948dupCT",
"hgvs_p": "p.Tyr650fs",
"transcript": "XM_017011684.2",
"protein_id": "XP_016867173.2",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011684.2"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1947_1948dupCT",
"hgvs_p": "p.Tyr650fs",
"transcript": "XM_017011685.2",
"protein_id": "XP_016867174.2",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011685.2"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1947_1948dupCT",
"hgvs_p": "p.Tyr650fs",
"transcript": "XM_047419786.1",
"protein_id": "XP_047275742.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419786.1"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1947_1948dupCT",
"hgvs_p": "p.Tyr650fs",
"transcript": "XM_047419787.1",
"protein_id": "XP_047275743.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1242,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419787.1"
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.1947_1948dupCT",
"hgvs_p": "p.Tyr650fs",
"transcript": "XM_017011686.3",
"protein_id": "XP_016867175.2",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1241,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"feature": "NR_028040.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASTOR3P",
"gene_hgnc_id": 29954,
"hgvs_c": "n.2512_2513dupAG",
"hgvs_p": null,
"transcript": "NR_166147.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_166147.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "n.*1266_*1267dupCT",
"hgvs_p": null,
"transcript": "ENST00000412190.6",
"protein_id": "ENSP00000395039.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000412190.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CASTOR3P",
"gene_hgnc_id": null,
"hgvs_c": "n.153+12193_153+12194dupAG",
"hgvs_p": null,
"transcript": "ENST00000842445.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000842445.1"
}
],
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"dbsnp": "rs869320765",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.454,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001282717.2",
"gene_symbol": "STAG3",
"hgnc_id": 11356,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1947_1948dupCT",
"hgvs_p": "p.Tyr650fs"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000328453.9",
"gene_symbol": "CASTOR3P",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3325_3326dupAG",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000718499.1",
"gene_symbol": "ENSG00000293698",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2764_2765dupAG",
"hgvs_p": null
}
],
"clinvar_disease": "Premature ovarian failure 8",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Premature ovarian failure 8",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}