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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: 3-49110781-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49110781&ref=G&alt=A&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49110781,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001199161.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Leu1210Phe",
"transcript": "NM_001199161.2",
"protein_id": "NP_001186090.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1384,
"cds_start": 3628,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 3832,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": "ENST00000417901.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Leu1210Phe",
"transcript": "ENST00000417901.6",
"protein_id": "ENSP00000395260.1",
"transcript_support_level": 1,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1384,
"cds_start": 3628,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 3832,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": "NM_001199161.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3319C>T",
"hgvs_p": "p.Leu1107Phe",
"transcript": "ENST00000398888.6",
"protein_id": "ENSP00000381863.2",
"transcript_support_level": 1,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3319,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 3638,
"cdna_end": null,
"cdna_length": 4559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3280C>T",
"hgvs_p": "p.Leu1094Phe",
"transcript": "ENST00000398896.6",
"protein_id": "ENSP00000381870.3",
"transcript_support_level": 1,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3280,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3473,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Leu1210Phe",
"transcript": "NM_001389594.1",
"protein_id": "NP_001376523.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1421,
"cds_start": 3628,
"cds_end": null,
"cds_length": 4266,
"cdna_start": 3832,
"cdna_end": null,
"cdna_length": 4755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Leu1210Phe",
"transcript": "NM_001389595.1",
"protein_id": "NP_001376524.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1421,
"cds_start": 3628,
"cds_end": null,
"cds_length": 4266,
"cdna_start": 3832,
"cdna_end": null,
"cdna_length": 4755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Leu1210Phe",
"transcript": "NM_001400288.1",
"protein_id": "NP_001387217.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1421,
"cds_start": 3628,
"cds_end": null,
"cds_length": 4266,
"cdna_start": 4120,
"cdna_end": null,
"cdna_length": 5043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Leu1210Phe",
"transcript": "ENST00000692912.1",
"protein_id": "ENSP00000508993.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1421,
"cds_start": 3628,
"cds_end": null,
"cds_length": 4266,
"cdna_start": 3832,
"cdna_end": null,
"cdna_length": 4755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3625C>T",
"hgvs_p": "p.Leu1209Phe",
"transcript": "NM_001351100.2",
"protein_id": "NP_001338029.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1420,
"cds_start": 3625,
"cds_end": null,
"cds_length": 4263,
"cdna_start": 3829,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3622C>T",
"hgvs_p": "p.Leu1208Phe",
"transcript": "NM_001199160.2",
"protein_id": "NP_001186089.1",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1419,
"cds_start": 3622,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 3826,
"cdna_end": null,
"cdna_length": 4749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3622C>T",
"hgvs_p": "p.Leu1208Phe",
"transcript": "ENST00000434032.6",
"protein_id": "ENSP00000401197.2",
"transcript_support_level": 2,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1419,
"cds_start": 3622,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 3834,
"cdna_end": null,
"cdna_length": 4677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3619C>T",
"hgvs_p": "p.Leu1207Phe",
"transcript": "NM_001389602.1",
"protein_id": "NP_001376531.1",
"transcript_support_level": null,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1418,
"cds_start": 3619,
"cds_end": null,
"cds_length": 4257,
"cdna_start": 3823,
"cdna_end": null,
"cdna_length": 4746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3583C>T",
"hgvs_p": "p.Leu1195Phe",
"transcript": "NM_001389603.1",
"protein_id": "NP_001376532.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3583,
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"cds_length": 4221,
"cdna_start": 3787,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3583C>T",
"hgvs_p": "p.Leu1195Phe",
"transcript": "ENST00000306026.6",
"protein_id": "ENSP00000303503.6",
"transcript_support_level": 2,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3583,
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"cds_length": 4221,
"cdna_start": 3782,
"cdna_end": null,
"cdna_length": 4665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3577C>T",
"hgvs_p": "p.Leu1193Phe",
"transcript": "NM_001389601.1",
"protein_id": "NP_001376530.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1404,
"cds_start": 3577,
"cds_end": null,
"cds_length": 4215,
"cdna_start": 3781,
"cdna_end": null,
"cdna_length": 4704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3634C>T",
"hgvs_p": "p.Leu1212Phe",
"transcript": "NM_001389596.1",
"protein_id": "NP_001376525.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1386,
"cds_start": 3634,
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"cdna_start": 3838,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3631C>T",
"hgvs_p": "p.Leu1211Phe",
"transcript": "NM_001400290.1",
"protein_id": "NP_001387219.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3631,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 3835,
"cdna_end": null,
"cdna_length": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Leu1210Phe",
"transcript": "NM_001351101.2",
"protein_id": "NP_001338030.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1384,
"cds_start": 3628,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 3832,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Leu1210Phe",
"transcript": "NM_001400292.1",
"protein_id": "NP_001387221.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
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"cds_start": 3628,
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"cdna_start": 4120,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3625C>T",
"hgvs_p": "p.Leu1209Phe",
"transcript": "NM_001389604.1",
"protein_id": "NP_001376533.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1383,
"cds_start": 3625,
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"cdna_start": 3829,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
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"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3622C>T",
"hgvs_p": "p.Leu1208Phe",
"transcript": "NM_001389598.1",
"protein_id": "NP_001376527.1",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3622,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 3826,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3622C>T",
"hgvs_p": "p.Leu1208Phe",
"transcript": "NM_001400293.1",
"protein_id": "NP_001387222.1",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1382,
"cds_start": 3622,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 4114,
"cdna_end": null,
"cdna_length": 5003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
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{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3274C>T",
"hgvs_p": "p.Leu1092Phe",
"transcript": "XM_047447353.1",
"protein_id": "XP_047303309.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3274,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 3478,
"cdna_end": null,
"cdna_length": 4367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "n.3319C>T",
"hgvs_p": null,
"transcript": "ENST00000693111.1",
"protein_id": "ENSP00000509474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "n.-24C>T",
"hgvs_p": null,
"transcript": "ENST00000483667.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"dbsnp": "rs201609350",
"frequency_reference_population": 0.00007558466,
"hom_count_reference_population": 0,
"allele_count_reference_population": 122,
"gnomad_exomes_af": 0.0000786671,
"gnomad_genomes_af": 0.0000459837,
"gnomad_exomes_ac": 115,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.44582754373550415,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.694,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9907,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.852,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001199161.2",
"gene_symbol": "USP19",
"hgnc_id": 12617,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Leu1210Phe"
}
],
"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
}