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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: 7-77326259-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=77326259&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 77326259,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017439.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1780C>T",
"hgvs_p": "p.Pro594Ser",
"transcript": "NM_017439.4",
"protein_id": "NP_059135.2",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 854,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257626.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017439.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1780C>T",
"hgvs_p": "p.Pro594Ser",
"transcript": "ENST00000257626.12",
"protein_id": "ENSP00000257626.7",
"transcript_support_level": 1,
"aa_start": 594,
"aa_end": null,
"aa_length": 854,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017439.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257626.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "n.1226C>T",
"hgvs_p": null,
"transcript": "ENST00000491796.5",
"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": "ENST00000491796.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1780C>T",
"hgvs_p": "p.Pro594Ser",
"transcript": "NM_001350896.2",
"protein_id": "NP_001337825.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 854,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350896.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Pro612Ser",
"transcript": "ENST00000943097.1",
"protein_id": "ENSP00000613156.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 838,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943097.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1726C>T",
"hgvs_p": "p.Pro576Ser",
"transcript": "NM_001350897.2",
"protein_id": "NP_001337826.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 836,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350897.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1723C>T",
"hgvs_p": "p.Pro575Ser",
"transcript": "NM_001350898.2",
"protein_id": "NP_001337827.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 835,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350898.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1780C>T",
"hgvs_p": "p.Pro594Ser",
"transcript": "ENST00000880888.1",
"protein_id": "ENSP00000550947.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 820,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880888.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1780C>T",
"hgvs_p": "p.Pro594Ser",
"transcript": "NM_001350899.2",
"protein_id": "NP_001337828.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 806,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350899.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Pro379Ser",
"transcript": "NM_001350900.2",
"protein_id": "NP_001337829.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 639,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350900.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Pro379Ser",
"transcript": "NM_001350901.2",
"protein_id": "NP_001337830.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 607,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350901.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Pro79Ser",
"transcript": "ENST00000415112.2",
"protein_id": "ENSP00000396230.2",
"transcript_support_level": 3,
"aa_start": 79,
"aa_end": null,
"aa_length": 187,
"cds_start": 235,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415112.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Pro612Ser",
"transcript": "XM_011516325.3",
"protein_id": "XP_011514627.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 872,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516325.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Pro612Ser",
"transcript": "XM_011516327.3",
"protein_id": "XP_011514629.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 824,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516327.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1726C>T",
"hgvs_p": "p.Pro576Ser",
"transcript": "XM_047420487.1",
"protein_id": "XP_047276443.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 788,
"cds_start": 1726,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420487.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Pro612Ser",
"transcript": "XM_047420488.1",
"protein_id": "XP_047276444.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 723,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420488.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1834C>T",
"hgvs_p": "p.Pro612Ser",
"transcript": "XM_047420489.1",
"protein_id": "XP_047276445.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 718,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420489.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Pro397Ser",
"transcript": "XM_011516330.3",
"protein_id": "XP_011514632.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 657,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516330.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Pro397Ser",
"transcript": "XM_017012346.2",
"protein_id": "XP_016867835.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 657,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012346.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Pro397Ser",
"transcript": "XM_047420490.1",
"protein_id": "XP_047276446.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 657,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420490.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Pro397Ser",
"transcript": "XM_047420491.1",
"protein_id": "XP_047276447.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 657,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420491.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"hgvs_c": "c.1189C>T",
"hgvs_p": "p.Pro397Ser",
"transcript": "XM_047420492.1",
"protein_id": "XP_047276448.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 657,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420492.1"
},
{
"aa_ref": "P",
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{
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{
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"protein_coding": false,
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"consequences": [
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},
{
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{
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{
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{
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},
{
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"gene_symbol": "GSAP",
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{
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"strand": true,
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],
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"feature": "ENST00000488998.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"gene_symbol": "GSAP",
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"transcript": "ENST00000441833.6",
"protein_id": "ENSP00000415402.2",
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"biotype": "protein_coding",
"feature": "ENST00000441833.6"
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],
"gene_symbol": "GSAP",
"gene_hgnc_id": 28042,
"dbsnp": "rs775914354",
"frequency_reference_population": 0.0000013705238,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137052,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5020262598991394,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.238,
"revel_prediction": "Benign",
"alphamissense_score": 0.1371,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.58,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017439.4",
"gene_symbol": "GSAP",
"hgnc_id": 28042,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1780C>T",
"hgvs_p": "p.Pro594Ser"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000488998.1",
"gene_symbol": "CCDC146",
"hgnc_id": 29296,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.425-3137G>A",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}