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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: 19-48795458-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48795458&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48795458,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001190.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1147A>G",
"hgvs_p": "p.Ile383Val",
"transcript": "NM_001190.4",
"protein_id": "NP_001181.2",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 392,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 1563,
"mane_select": "ENST00000316273.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1147A>G",
"hgvs_p": "p.Ile383Val",
"transcript": "ENST00000316273.11",
"protein_id": "ENSP00000322991.5",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 392,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 1563,
"mane_select": "NM_001190.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316273.11"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Ile291Val",
"transcript": "ENST00000545387.6",
"protein_id": "ENSP00000440973.1",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 300,
"cds_start": 871,
"cds_end": null,
"cds_length": 903,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 1272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545387.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1306A>G",
"hgvs_p": "p.Ile436Val",
"transcript": "ENST00000593515.5",
"protein_id": "ENSP00000469139.1",
"transcript_support_level": 5,
"aa_start": 436,
"aa_end": null,
"aa_length": 445,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593515.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1231A>G",
"hgvs_p": "p.Ile411Val",
"transcript": "ENST00000869279.1",
"protein_id": "ENSP00000539338.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 420,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 1649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869279.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1219A>G",
"hgvs_p": "p.Ile407Val",
"transcript": "ENST00000971045.1",
"protein_id": "ENSP00000641104.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 416,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 1660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971045.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1159A>G",
"hgvs_p": "p.Ile387Val",
"transcript": "ENST00000869277.1",
"protein_id": "ENSP00000539336.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 396,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869277.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Ile374Val",
"transcript": "ENST00000869280.1",
"protein_id": "ENSP00000539339.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 383,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 1534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869280.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1111A>G",
"hgvs_p": "p.Ile371Val",
"transcript": "ENST00000869276.1",
"protein_id": "ENSP00000539335.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 380,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1148,
"cdna_end": null,
"cdna_length": 1544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869276.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1093A>G",
"hgvs_p": "p.Ile365Val",
"transcript": "ENST00000869275.1",
"protein_id": "ENSP00000539334.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 374,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869275.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1090A>G",
"hgvs_p": "p.Ile364Val",
"transcript": "ENST00000971046.1",
"protein_id": "ENSP00000641105.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 373,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 1507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971046.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1078A>G",
"hgvs_p": "p.Ile360Val",
"transcript": "ENST00000917100.1",
"protein_id": "ENSP00000587159.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 369,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917100.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1054A>G",
"hgvs_p": "p.Ile352Val",
"transcript": "ENST00000869281.1",
"protein_id": "ENSP00000539340.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 361,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869281.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1027A>G",
"hgvs_p": "p.Ile343Val",
"transcript": "NM_001284325.2",
"protein_id": "NP_001271254.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 352,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 2044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284325.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1027A>G",
"hgvs_p": "p.Ile343Val",
"transcript": "ENST00000402551.5",
"protein_id": "ENSP00000385161.1",
"transcript_support_level": 2,
"aa_start": 343,
"aa_end": null,
"aa_length": 352,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 2041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402551.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1027A>G",
"hgvs_p": "p.Ile343Val",
"transcript": "ENST00000597011.5",
"protein_id": "ENSP00000469651.1",
"transcript_support_level": 5,
"aa_start": 343,
"aa_end": null,
"aa_length": 352,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597011.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1000A>G",
"hgvs_p": "p.Ile334Val",
"transcript": "ENST00000917097.1",
"protein_id": "ENSP00000587156.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 343,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 1420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917097.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.946A>G",
"hgvs_p": "p.Ile316Val",
"transcript": "ENST00000869278.1",
"protein_id": "ENSP00000539337.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 325,
"cds_start": 946,
"cds_end": null,
"cds_length": 978,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869278.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.925A>G",
"hgvs_p": "p.Ile309Val",
"transcript": "ENST00000917101.1",
"protein_id": "ENSP00000587160.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 318,
"cds_start": 925,
"cds_end": null,
"cds_length": 957,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917101.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Ile298Val",
"transcript": "ENST00000917098.1",
"protein_id": "ENSP00000587157.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 307,
"cds_start": 892,
"cds_end": null,
"cds_length": 924,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917098.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Ile291Val",
"transcript": "NM_001164773.2",
"protein_id": "NP_001158245.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 300,
"cds_start": 871,
"cds_end": null,
"cds_length": 903,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 1287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164773.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.835A>G",
"hgvs_p": "p.Ile279Val",
"transcript": "ENST00000869282.1",
"protein_id": "ENSP00000539341.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 288,
"cds_start": 835,
"cds_end": null,
"cds_length": 867,
"cdna_start": 855,
"cdna_end": null,
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{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 9,
"intron_rank": null,
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"transcript": "ENST00000917096.1",
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"aa_start": 273,
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"biotype": "protein_coding",
"feature": "ENST00000917096.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 9,
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"gene_symbol": "BCAT2",
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"hgvs_c": "c.781A>G",
"hgvs_p": "p.Ile261Val",
"transcript": "ENST00000917099.1",
"protein_id": "ENSP00000587158.1",
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"aa_start": 261,
"aa_end": null,
"aa_length": 270,
"cds_start": 781,
"cds_end": null,
"cds_length": 813,
"cdna_start": 803,
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"biotype": "protein_coding",
"feature": "ENST00000917099.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 8,
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"gene_symbol": "BCAT2",
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"hgvs_c": "c.730A>G",
"hgvs_p": "p.Ile244Val",
"transcript": "ENST00000917103.1",
"protein_id": "ENSP00000587162.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 253,
"cds_start": 730,
"cds_end": null,
"cds_length": 762,
"cdna_start": 746,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917103.1"
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.418A>G",
"hgvs_p": "p.Ile140Val",
"transcript": "ENST00000917102.1",
"protein_id": "ENSP00000587161.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 149,
"cds_start": 418,
"cds_end": null,
"cds_length": 450,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917102.1"
}
],
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"dbsnp": "rs145231743",
"frequency_reference_population": 6.8415454e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84155e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.048887282609939575,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.072,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.077,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001190.4",
"gene_symbol": "BCAT2",
"hgnc_id": 977,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1147A>G",
"hgvs_p": "p.Ile383Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}