← Back to variant description
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: 19-48796633-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48796633&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48796633,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001190.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1010G>C",
"hgvs_p": "p.Gly337Ala",
"transcript": "NM_001190.4",
"protein_id": "NP_001181.2",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 392,
"cds_start": 1010,
"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": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1010G>C",
"hgvs_p": "p.Gly337Ala",
"transcript": "ENST00000316273.11",
"protein_id": "ENSP00000322991.5",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 392,
"cds_start": 1010,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1010G>C",
"hgvs_p": "p.Gly337Ala",
"transcript": "ENST00000598162.5",
"protein_id": "ENSP00000470216.1",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 405,
"cds_start": 1010,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.734G>C",
"hgvs_p": "p.Gly245Ala",
"transcript": "ENST00000599246.5",
"protein_id": "ENSP00000470680.1",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 313,
"cds_start": 734,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.734G>C",
"hgvs_p": "p.Gly245Ala",
"transcript": "ENST00000545387.6",
"protein_id": "ENSP00000440973.1",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 300,
"cds_start": 734,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.986G>C",
"hgvs_p": "p.Gly329Ala",
"transcript": "ENST00000593515.5",
"protein_id": "ENSP00000469139.1",
"transcript_support_level": 5,
"aa_start": 329,
"aa_end": null,
"aa_length": 445,
"cds_start": 986,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1094G>C",
"hgvs_p": "p.Gly365Ala",
"transcript": "ENST00000869279.1",
"protein_id": "ENSP00000539338.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 420,
"cds_start": 1094,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1082G>C",
"hgvs_p": "p.Gly361Ala",
"transcript": "ENST00000971045.1",
"protein_id": "ENSP00000641104.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 416,
"cds_start": 1082,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1022G>C",
"hgvs_p": "p.Gly341Ala",
"transcript": "ENST00000869277.1",
"protein_id": "ENSP00000539336.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 396,
"cds_start": 1022,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.983G>C",
"hgvs_p": "p.Gly328Ala",
"transcript": "ENST00000869280.1",
"protein_id": "ENSP00000539339.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 383,
"cds_start": 983,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1010G>C",
"hgvs_p": "p.Gly337Ala",
"transcript": "ENST00000869276.1",
"protein_id": "ENSP00000539335.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 380,
"cds_start": 1010,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1010G>C",
"hgvs_p": "p.Gly337Ala",
"transcript": "ENST00000869275.1",
"protein_id": "ENSP00000539334.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 374,
"cds_start": 1010,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1010G>C",
"hgvs_p": "p.Gly337Ala",
"transcript": "ENST00000971046.1",
"protein_id": "ENSP00000641105.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 373,
"cds_start": 1010,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.941G>C",
"hgvs_p": "p.Gly314Ala",
"transcript": "ENST00000917100.1",
"protein_id": "ENSP00000587159.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 369,
"cds_start": 941,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.734G>C",
"hgvs_p": "p.Gly245Ala",
"transcript": "ENST00000869281.1",
"protein_id": "ENSP00000539340.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 361,
"cds_start": 734,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.890G>C",
"hgvs_p": "p.Gly297Ala",
"transcript": "NM_001284325.2",
"protein_id": "NP_001271254.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 352,
"cds_start": 890,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.890G>C",
"hgvs_p": "p.Gly297Ala",
"transcript": "ENST00000402551.5",
"protein_id": "ENSP00000385161.1",
"transcript_support_level": 2,
"aa_start": 297,
"aa_end": null,
"aa_length": 352,
"cds_start": 890,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.890G>C",
"hgvs_p": "p.Gly297Ala",
"transcript": "ENST00000597011.5",
"protein_id": "ENSP00000469651.1",
"transcript_support_level": 5,
"aa_start": 297,
"aa_end": null,
"aa_length": 352,
"cds_start": 890,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.863G>C",
"hgvs_p": "p.Gly288Ala",
"transcript": "ENST00000917097.1",
"protein_id": "ENSP00000587156.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 343,
"cds_start": 863,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.809G>C",
"hgvs_p": "p.Gly270Ala",
"transcript": "ENST00000869278.1",
"protein_id": "ENSP00000539337.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 325,
"cds_start": 809,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.788G>C",
"hgvs_p": "p.Gly263Ala",
"transcript": "ENST00000917101.1",
"protein_id": "ENSP00000587160.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 318,
"cds_start": 788,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.809G>C",
"hgvs_p": "p.Gly270Ala",
"transcript": "ENST00000917098.1",
"protein_id": "ENSP00000587157.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 307,
"cds_start": 809,
"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": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.734G>C",
"hgvs_p": "p.Gly245Ala",
"transcript": "NM_001164773.2",
"protein_id": "NP_001158245.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 300,
"cds_start": 734,
"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": "NM_001164773.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.734G>C",
"hgvs_p": "p.Gly245Ala",
"transcript": "ENST00000869282.1",
"protein_id": "ENSP00000539341.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 288,
"cds_start": 734,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869282.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.734G>C",
"hgvs_p": "p.Gly245Ala",
"transcript": "ENST00000917096.1",
"protein_id": "ENSP00000587155.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 282,
"cds_start": 734,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917096.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.734G>C",
"hgvs_p": "p.Gly245Ala",
"transcript": "ENST00000917099.1",
"protein_id": "ENSP00000587158.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 270,
"cds_start": 734,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917099.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.281G>C",
"hgvs_p": "p.Gly94Ala",
"transcript": "ENST00000917102.1",
"protein_id": "ENSP00000587161.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 149,
"cds_start": 281,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917102.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "c.649-131G>C",
"hgvs_p": null,
"transcript": "ENST00000917103.1",
"protein_id": "ENSP00000587162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": null,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"hgvs_c": "n.525G>C",
"hgvs_p": null,
"transcript": "ENST00000599510.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000599510.1"
}
],
"gene_symbol": "BCAT2",
"gene_hgnc_id": 977,
"dbsnp": null,
"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": 0.6627835631370544,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.248,
"revel_prediction": "Benign",
"alphamissense_score": 0.3595,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.398,
"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_001190.4",
"gene_symbol": "BCAT2",
"hgnc_id": 977,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1010G>C",
"hgvs_p": "p.Gly337Ala"
}
],
"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
}