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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: 19-48796629-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48796629&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48796629,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001190.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Ser338Ser",
"transcript": "NM_001190.4",
"protein_id": "NP_001181.2",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 392,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316273.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Ser338Ser",
"transcript": "ENST00000316273.11",
"protein_id": "ENSP00000322991.5",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 392,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001190.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316273.11"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Ser338Ser",
"transcript": "ENST00000598162.5",
"protein_id": "ENSP00000470216.1",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 405,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598162.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Ser246Ser",
"transcript": "ENST00000599246.5",
"protein_id": "ENSP00000470680.1",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 313,
"cds_start": 738,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599246.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Ser246Ser",
"transcript": "ENST00000545387.6",
"protein_id": "ENSP00000440973.1",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 300,
"cds_start": 738,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545387.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Ser330Ser",
"transcript": "ENST00000593515.5",
"protein_id": "ENSP00000469139.1",
"transcript_support_level": 5,
"aa_start": 330,
"aa_end": null,
"aa_length": 445,
"cds_start": 990,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593515.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1098G>A",
"hgvs_p": "p.Ser366Ser",
"transcript": "ENST00000869279.1",
"protein_id": "ENSP00000539338.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 420,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869279.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1086G>A",
"hgvs_p": "p.Ser362Ser",
"transcript": "ENST00000971045.1",
"protein_id": "ENSP00000641104.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 416,
"cds_start": 1086,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971045.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1026G>A",
"hgvs_p": "p.Ser342Ser",
"transcript": "ENST00000869277.1",
"protein_id": "ENSP00000539336.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 396,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869277.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.987G>A",
"hgvs_p": "p.Ser329Ser",
"transcript": "ENST00000869280.1",
"protein_id": "ENSP00000539339.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 383,
"cds_start": 987,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869280.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Ser338Ser",
"transcript": "ENST00000869276.1",
"protein_id": "ENSP00000539335.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 380,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869276.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Ser338Ser",
"transcript": "ENST00000869275.1",
"protein_id": "ENSP00000539334.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 374,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869275.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Ser338Ser",
"transcript": "ENST00000971046.1",
"protein_id": "ENSP00000641105.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 373,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971046.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Ser315Ser",
"transcript": "ENST00000917100.1",
"protein_id": "ENSP00000587159.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 369,
"cds_start": 945,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917100.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Ser246Ser",
"transcript": "ENST00000869281.1",
"protein_id": "ENSP00000539340.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 361,
"cds_start": 738,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869281.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.894G>A",
"hgvs_p": "p.Ser298Ser",
"transcript": "NM_001284325.2",
"protein_id": "NP_001271254.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 352,
"cds_start": 894,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284325.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.894G>A",
"hgvs_p": "p.Ser298Ser",
"transcript": "ENST00000402551.5",
"protein_id": "ENSP00000385161.1",
"transcript_support_level": 2,
"aa_start": 298,
"aa_end": null,
"aa_length": 352,
"cds_start": 894,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402551.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.894G>A",
"hgvs_p": "p.Ser298Ser",
"transcript": "ENST00000597011.5",
"protein_id": "ENSP00000469651.1",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 352,
"cds_start": 894,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597011.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.867G>A",
"hgvs_p": "p.Ser289Ser",
"transcript": "ENST00000917097.1",
"protein_id": "ENSP00000587156.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 343,
"cds_start": 867,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917097.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.813G>A",
"hgvs_p": "p.Ser271Ser",
"transcript": "ENST00000869278.1",
"protein_id": "ENSP00000539337.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 325,
"cds_start": 813,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869278.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.792G>A",
"hgvs_p": "p.Ser264Ser",
"transcript": "ENST00000917101.1",
"protein_id": "ENSP00000587160.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 318,
"cds_start": 792,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917101.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.813G>A",
"hgvs_p": "p.Ser271Ser",
"transcript": "ENST00000917098.1",
"protein_id": "ENSP00000587157.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 307,
"cds_start": 813,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917098.1"
},
{
"aa_ref": "S",
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"protein_coding": true,
"strand": false,
"consequences": [
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"exon_rank": 7,
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},
{
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"protein_coding": true,
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],
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"biotype": "protein_coding",
"feature": "ENST00000869282.1"
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
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"exon_count": 9,
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"gene_symbol": "BCAT2",
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"hgvs_p": "p.Ser246Ser",
"transcript": "ENST00000917096.1",
"protein_id": "ENSP00000587155.1",
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"biotype": "protein_coding",
"feature": "ENST00000917096.1"
},
{
"aa_ref": "S",
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"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
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"exon_count": 9,
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"gene_symbol": "BCAT2",
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"transcript": "ENST00000917099.1",
"protein_id": "ENSP00000587158.1",
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"biotype": "protein_coding",
"feature": "ENST00000917099.1"
},
{
"aa_ref": "S",
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"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
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"gene_symbol": "BCAT2",
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"hgvs_c": "c.285G>A",
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"transcript": "ENST00000917102.1",
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"feature": "ENST00000917102.1"
},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "BCAT2",
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"biotype": "protein_coding",
"feature": "ENST00000917103.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 4,
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"gene_symbol": "BCAT2",
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"hgvs_c": "n.529G>A",
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"transcript": "ENST00000599510.1",
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"transcript_support_level": 2,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000599510.1"
}
],
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"dbsnp": "rs571191767",
"frequency_reference_population": 0.000009915053,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000889532,
"gnomad_genomes_af": 0.0000197024,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.693,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001190.4",
"gene_symbol": "BCAT2",
"hgnc_id": 977,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1014G>A",
"hgvs_p": "p.Ser338Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}