← 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: 22-49774367-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=49774367&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 49774367,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000404760.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3436A>T",
"hgvs_p": "p.Ile1146Leu",
"transcript": "NM_001304808.3",
"protein_id": "NP_001291737.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3436,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 3827,
"cdna_end": null,
"cdna_length": 4911,
"mane_select": "ENST00000404760.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3436A>T",
"hgvs_p": "p.Ile1146Leu",
"transcript": "ENST00000404760.6",
"protein_id": "ENSP00000385858.1",
"transcript_support_level": 2,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3436,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 3827,
"cdna_end": null,
"cdna_length": 4911,
"mane_select": "NM_001304808.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"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": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3043A>T",
"hgvs_p": "p.Ile1015Leu",
"transcript": "ENST00000216267.12",
"protein_id": "ENSP00000216267.8",
"transcript_support_level": 1,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 3530,
"cdna_end": null,
"cdna_length": 4614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3043A>T",
"hgvs_p": "p.Ile1015Leu",
"transcript": "ENST00000404034.5",
"protein_id": "ENSP00000384076.1",
"transcript_support_level": 1,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 3228,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"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": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3436A>T",
"hgvs_p": "p.Ile1146Leu",
"transcript": "ENST00000457780.3",
"protein_id": "ENSP00000410042.3",
"transcript_support_level": 5,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3436,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 3923,
"cdna_end": null,
"cdna_length": 4997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3430A>T",
"hgvs_p": "p.Ile1144Leu",
"transcript": "NM_001394548.1",
"protein_id": "NP_001381477.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1187,
"cds_start": 3430,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 3821,
"cdna_end": null,
"cdna_length": 4905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3421A>T",
"hgvs_p": "p.Ile1141Leu",
"transcript": "NM_001349941.2",
"protein_id": "NP_001336870.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3421,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 3812,
"cdna_end": null,
"cdna_length": 4896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3415A>T",
"hgvs_p": "p.Ile1139Leu",
"transcript": "NM_001394549.1",
"protein_id": "NP_001381478.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3415,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 3806,
"cdna_end": null,
"cdna_length": 4890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3190A>T",
"hgvs_p": "p.Ile1064Leu",
"transcript": "NM_001349940.2",
"protein_id": "NP_001336869.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3190,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3581,
"cdna_end": null,
"cdna_length": 4665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3043A>T",
"hgvs_p": "p.Ile1015Leu",
"transcript": "NM_001304809.1",
"protein_id": "NP_001291738.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 3228,
"cdna_end": null,
"cdna_length": 4317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3043A>T",
"hgvs_p": "p.Ile1015Leu",
"transcript": "NM_001394551.1",
"protein_id": "NP_001381480.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 3434,
"cdna_end": null,
"cdna_length": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"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": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3043A>T",
"hgvs_p": "p.Ile1015Leu",
"transcript": "NM_001394552.1",
"protein_id": "NP_001381481.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 4077,
"cdna_end": null,
"cdna_length": 5161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.1894A>T",
"hgvs_p": "p.Ile632Leu",
"transcript": "NM_001349942.2",
"protein_id": "NP_001336871.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 675,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 3980,
"cdna_end": null,
"cdna_length": 5064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"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": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.1501A>T",
"hgvs_p": "p.Ile501Leu",
"transcript": "NM_001394550.1",
"protein_id": "NP_001381479.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 544,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3598A>T",
"hgvs_p": "p.Ile1200Leu",
"transcript": "XM_017028722.3",
"protein_id": "XP_016884211.2",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3598,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 3632,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3598A>T",
"hgvs_p": "p.Ile1200Leu",
"transcript": "XM_047441281.1",
"protein_id": "XP_047297237.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3598,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 3783,
"cdna_end": null,
"cdna_length": 4872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3592A>T",
"hgvs_p": "p.Ile1198Leu",
"transcript": "XM_047441271.1",
"protein_id": "XP_047297227.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3592,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3606,
"cdna_end": null,
"cdna_length": 4695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3436A>T",
"hgvs_p": "p.Ile1146Leu",
"transcript": "XM_017028716.2",
"protein_id": "XP_016884205.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3436,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 4047,
"cdna_end": null,
"cdna_length": 5136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3436A>T",
"hgvs_p": "p.Ile1146Leu",
"transcript": "XM_047441274.1",
"protein_id": "XP_047297230.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1189,
"cds_start": 3436,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 4005,
"cdna_end": null,
"cdna_length": 5094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3322A>T",
"hgvs_p": "p.Ile1108Leu",
"transcript": "XM_047441278.1",
"protein_id": "XP_047297234.1",
"transcript_support_level": null,
"aa_start": 1108,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3322,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 5166,
"cdna_end": null,
"cdna_length": 6255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3205A>T",
"hgvs_p": "p.Ile1069Leu",
"transcript": "XM_047441272.1",
"protein_id": "XP_047297228.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1112,
"cds_start": 3205,
"cds_end": null,
"cds_length": 3339,
"cdna_start": 3219,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3199A>T",
"hgvs_p": "p.Ile1067Leu",
"transcript": "XM_047441273.1",
"protein_id": "XP_047297229.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1110,
"cds_start": 3199,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 3213,
"cdna_end": null,
"cdna_length": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"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": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3100A>T",
"hgvs_p": "p.Ile1034Leu",
"transcript": "XM_047441275.1",
"protein_id": "XP_047297231.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1077,
"cds_start": 3100,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 3114,
"cdna_end": null,
"cdna_length": 4203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"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": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3094A>T",
"hgvs_p": "p.Ile1032Leu",
"transcript": "XM_047441276.1",
"protein_id": "XP_047297232.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1075,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3228,
"cdna_start": 3108,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"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": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.3037A>T",
"hgvs_p": "p.Ile1013Leu",
"transcript": "XM_047441277.1",
"protein_id": "XP_047297233.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1056,
"cds_start": 3037,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 3051,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"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": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "c.2938A>T",
"hgvs_p": "p.Ile980Leu",
"transcript": "XM_017028718.2",
"protein_id": "XP_016884207.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1023,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 2952,
"cdna_end": null,
"cdna_length": 4041,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "n.*437A>T",
"hgvs_p": null,
"transcript": "ENST00000438393.6",
"protein_id": "ENSP00000388027.2",
"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": 4160,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "n.3745A>T",
"hgvs_p": null,
"transcript": "NR_146334.2",
"protein_id": null,
"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": 4829,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "n.4142A>T",
"hgvs_p": null,
"transcript": "NR_146335.2",
"protein_id": null,
"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": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"hgvs_c": "n.*437A>T",
"hgvs_p": null,
"transcript": "ENST00000438393.6",
"protein_id": "ENSP00000388027.2",
"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": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BRD1",
"gene_hgnc_id": 1102,
"dbsnp": "rs769189277",
"frequency_reference_population": 0.0000013682642,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136826,
"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": 0.14196234941482544,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.151,
"revel_prediction": "Benign",
"alphamissense_score": 0.1413,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.133,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000404760.6",
"gene_symbol": "BRD1",
"hgnc_id": 1102,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3436A>T",
"hgvs_p": "p.Ile1146Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}