← 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: 7-2539260-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2539260&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "BRAT1",
"hgnc_id": 21701,
"hgvs_c": "c.1689G>A",
"hgvs_p": "p.Ala563Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_001350626.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 912,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"chr": "7",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Neonatal-onset encephalopathy with rigidity and seizures,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.75,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 821,
"aa_ref": "A",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1743,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1689,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_152743.4",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1689G>A",
"hgvs_p": "p.Ala563Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340611.9",
"protein_coding": true,
"protein_id": "NP_689956.2",
"strand": false,
"transcript": "NM_152743.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 821,
"aa_ref": "A",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1743,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1689,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000340611.9",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1689G>A",
"hgvs_p": "p.Ala563Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152743.4",
"protein_coding": true,
"protein_id": "ENSP00000339637.4",
"strand": false,
"transcript": "ENST00000340611.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 900,
"aa_ref": "A",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 2238,
"cds_end": null,
"cds_length": 2703,
"cds_start": 1926,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890463.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1926G>A",
"hgvs_p": "p.Ala642Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560522.1",
"strand": false,
"transcript": "ENST00000890463.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 899,
"aa_ref": "A",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 1977,
"cds_end": null,
"cds_length": 2700,
"cds_start": 1923,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000917322.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1923G>A",
"hgvs_p": "p.Ala641Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587381.1",
"strand": false,
"transcript": "ENST00000917322.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 890,
"aa_ref": "A",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": 1930,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1896,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890472.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1896G>A",
"hgvs_p": "p.Ala632Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560531.1",
"strand": false,
"transcript": "ENST00000890472.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 885,
"aa_ref": "A",
"aa_start": 627,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2927,
"cdna_start": 1934,
"cds_end": null,
"cds_length": 2658,
"cds_start": 1881,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000917323.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1881G>A",
"hgvs_p": "p.Ala627Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587382.1",
"strand": false,
"transcript": "ENST00000917323.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 881,
"aa_ref": "A",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2959,
"cdna_start": 1743,
"cds_end": null,
"cds_length": 2646,
"cds_start": 1689,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001350626.2",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1689G>A",
"hgvs_p": "p.Ala563Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337555.1",
"strand": false,
"transcript": "NM_001350626.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 881,
"aa_ref": "A",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 2646,
"cds_start": 1689,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890462.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1689G>A",
"hgvs_p": "p.Ala563Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560521.1",
"strand": false,
"transcript": "ENST00000890462.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 881,
"aa_ref": "A",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3302,
"cdna_start": 2149,
"cds_end": null,
"cds_length": 2646,
"cds_start": 1689,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890481.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1689G>A",
"hgvs_p": "p.Ala563Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560540.1",
"strand": false,
"transcript": "ENST00000890481.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 880,
"aa_ref": "A",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 2643,
"cds_start": 1686,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890470.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1686G>A",
"hgvs_p": "p.Ala562Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560529.1",
"strand": false,
"transcript": "ENST00000890470.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 868,
"aa_ref": "A",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3121,
"cdna_start": 2126,
"cds_end": null,
"cds_length": 2607,
"cds_start": 1830,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890464.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Ala610Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560523.1",
"strand": false,
"transcript": "ENST00000890464.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 860,
"aa_ref": "A",
"aa_start": 602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 1860,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1806,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970715.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1806G>A",
"hgvs_p": "p.Ala602Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640774.1",
"strand": false,
"transcript": "ENST00000970715.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 856,
"aa_ref": "A",
"aa_start": 598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 1848,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1794,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000917321.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1794G>A",
"hgvs_p": "p.Ala598Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587380.1",
"strand": false,
"transcript": "ENST00000917321.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 849,
"aa_ref": "A",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2863,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 2550,
"cds_start": 1773,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890468.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1773G>A",
"hgvs_p": "p.Ala591Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560527.1",
"strand": false,
"transcript": "ENST00000890468.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 848,
"aa_ref": "A",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 2547,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000917319.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1770G>A",
"hgvs_p": "p.Ala590Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587378.1",
"strand": false,
"transcript": "ENST00000917319.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 840,
"aa_ref": "A",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 1824,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1746,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890471.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1746G>A",
"hgvs_p": "p.Ala582Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560530.1",
"strand": false,
"transcript": "ENST00000890471.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 840,
"aa_ref": "A",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2727,
"cdna_start": 1762,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1746,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890484.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1746G>A",
"hgvs_p": "p.Ala582Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560543.1",
"strand": false,
"transcript": "ENST00000890484.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 840,
"aa_ref": "A",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 1782,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1746,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970714.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1746G>A",
"hgvs_p": "p.Ala582Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640773.1",
"strand": false,
"transcript": "ENST00000970714.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 1777,
"cds_end": null,
"cds_length": 2520,
"cds_start": 1743,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890474.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1743G>A",
"hgvs_p": "p.Ala581Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560533.1",
"strand": false,
"transcript": "ENST00000890474.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 1777,
"cds_end": null,
"cds_length": 2520,
"cds_start": 1743,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890475.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1743G>A",
"hgvs_p": "p.Ala581Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560534.1",
"strand": false,
"transcript": "ENST00000890475.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": 1753,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1737,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000917329.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1737G>A",
"hgvs_p": "p.Ala579Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587388.1",
"strand": false,
"transcript": "ENST00000917329.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 832,
"aa_ref": "A",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": 1776,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1722,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890476.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1722G>A",
"hgvs_p": "p.Ala574Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560535.1",
"strand": false,
"transcript": "ENST00000890476.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 831,
"aa_ref": "A",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3166,
"cdna_start": 2179,
"cds_end": null,
"cds_length": 2496,
"cds_start": 1719,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000917327.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1719G>A",
"hgvs_p": "p.Ala573Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587386.1",
"strand": false,
"transcript": "ENST00000917327.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 831,
"aa_ref": "A",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2768,
"cdna_start": 1773,
"cds_end": null,
"cds_length": 2496,
"cds_start": 1719,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970712.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1719G>A",
"hgvs_p": "p.Ala573Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640771.1",
"strand": false,
"transcript": "ENST00000970712.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 821,
"aa_ref": "A",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2744,
"cdna_start": 1749,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1689,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890473.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1689G>A",
"hgvs_p": "p.Ala563Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560532.1",
"strand": false,
"transcript": "ENST00000890473.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 821,
"aa_ref": "A",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 2152,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1689,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890478.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1689G>A",
"hgvs_p": "p.Ala563Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560537.1",
"strand": false,
"transcript": "ENST00000890478.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 821,
"aa_ref": "A",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3737,
"cdna_start": 2742,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1689,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000917326.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1689G>A",
"hgvs_p": "p.Ala563Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587385.1",
"strand": false,
"transcript": "ENST00000917326.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 820,
"aa_ref": "A",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1686,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890466.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1686G>A",
"hgvs_p": "p.Ala562Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560525.1",
"strand": false,
"transcript": "ENST00000890466.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 820,
"aa_ref": "A",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 1736,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1686,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890482.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1686G>A",
"hgvs_p": "p.Ala562Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560541.1",
"strand": false,
"transcript": "ENST00000890482.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 820,
"aa_ref": "A",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2805,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1686,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890483.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1686G>A",
"hgvs_p": "p.Ala562Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560542.1",
"strand": false,
"transcript": "ENST00000890483.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 819,
"aa_ref": "A",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 2460,
"cds_start": 1683,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970716.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1683G>A",
"hgvs_p": "p.Ala561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640775.1",
"strand": false,
"transcript": "ENST00000970716.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 818,
"aa_ref": "A",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 2457,
"cds_start": 1680,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000917330.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1680G>A",
"hgvs_p": "p.Ala560Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587389.1",
"strand": false,
"transcript": "ENST00000917330.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 811,
"aa_ref": "A",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2947,
"cdna_start": 1952,
"cds_end": null,
"cds_length": 2436,
"cds_start": 1659,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890465.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1659G>A",
"hgvs_p": "p.Ala553Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560524.1",
"strand": false,
"transcript": "ENST00000890465.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 810,
"aa_ref": "A",
"aa_start": 552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 2433,
"cds_start": 1656,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890480.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1656G>A",
"hgvs_p": "p.Ala552Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560539.1",
"strand": false,
"transcript": "ENST00000890480.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 809,
"aa_ref": "A",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2762,
"cdna_start": 1728,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1653,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890467.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1653G>A",
"hgvs_p": "p.Ala551Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560526.1",
"strand": false,
"transcript": "ENST00000890467.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 809,
"aa_ref": "A",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": 2112,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1653,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000917328.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1653G>A",
"hgvs_p": "p.Ala551Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587387.1",
"strand": false,
"transcript": "ENST00000917328.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 789,
"aa_ref": "A",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2611,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 2370,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890477.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1593G>A",
"hgvs_p": "p.Ala531Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560536.1",
"strand": false,
"transcript": "ENST00000890477.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 788,
"aa_ref": "A",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2631,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1590,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970713.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1590G>A",
"hgvs_p": "p.Ala530Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640772.1",
"strand": false,
"transcript": "ENST00000970713.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 780,
"aa_ref": "A",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": 1600,
"cds_end": null,
"cds_length": 2343,
"cds_start": 1566,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000890479.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1566G>A",
"hgvs_p": "p.Ala522Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560538.1",
"strand": false,
"transcript": "ENST00000890479.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 777,
"aa_ref": "A",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1377,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970718.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1377G>A",
"hgvs_p": "p.Ala459Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640777.1",
"strand": false,
"transcript": "ENST00000970718.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 775,
"aa_ref": "A",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2531,
"cdna_start": 1567,
"cds_end": null,
"cds_length": 2328,
"cds_start": 1551,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970719.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1551G>A",
"hgvs_p": "p.Ala517Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640778.1",
"strand": false,
"transcript": "ENST00000970719.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 771,
"aa_ref": "A",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 2316,
"cds_start": 1539,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000917325.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Ala513Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587384.1",
"strand": false,
"transcript": "ENST00000917325.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 762,
"aa_ref": "A",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 1528,
"cds_end": null,
"cds_length": 2289,
"cds_start": 1512,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970717.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1512G>A",
"hgvs_p": "p.Ala504Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640776.1",
"strand": false,
"transcript": "ENST00000970717.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 734,
"aa_ref": "A",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 2205,
"cds_start": 1428,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000917320.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1428G>A",
"hgvs_p": "p.Ala476Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587379.1",
"strand": false,
"transcript": "ENST00000917320.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 720,
"aa_ref": "A",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 2163,
"cds_start": 1386,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000890469.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1386G>A",
"hgvs_p": "p.Ala462Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560528.1",
"strand": false,
"transcript": "ENST00000890469.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 717,
"aa_ref": "A",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2395,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1377,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000917324.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1377G>A",
"hgvs_p": "p.Ala459Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587383.1",
"strand": false,
"transcript": "ENST00000917324.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 646,
"aa_ref": "A",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2631,
"cdna_start": 1595,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1164,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001350627.2",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1164G>A",
"hgvs_p": "p.Ala388Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337556.1",
"strand": false,
"transcript": "NM_001350627.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 909,
"aa_ref": "A",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 2730,
"cds_start": 1773,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011515177.3",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1773G>A",
"hgvs_p": "p.Ala591Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513479.1",
"strand": false,
"transcript": "XM_011515177.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 909,
"aa_ref": "A",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3489,
"cdna_start": 2273,
"cds_end": null,
"cds_length": 2730,
"cds_start": 1773,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011515178.2",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1773G>A",
"hgvs_p": "p.Ala591Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513480.1",
"strand": false,
"transcript": "XM_011515178.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 908,
"aa_ref": "A",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3040,
"cdna_start": 1824,
"cds_end": null,
"cds_length": 2727,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011515179.3",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1770G>A",
"hgvs_p": "p.Ala590Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513481.1",
"strand": false,
"transcript": "XM_011515179.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 880,
"aa_ref": "A",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 2643,
"cds_start": 1686,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047420028.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1686G>A",
"hgvs_p": "p.Ala562Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275984.1",
"strand": false,
"transcript": "XM_047420028.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 849,
"aa_ref": "A",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2863,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 2550,
"cds_start": 1773,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011515181.3",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1773G>A",
"hgvs_p": "p.Ala591Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513483.1",
"strand": false,
"transcript": "XM_011515181.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 820,
"aa_ref": "A",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1686,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017011834.2",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1686G>A",
"hgvs_p": "p.Ala562Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867323.1",
"strand": false,
"transcript": "XM_017011834.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 734,
"aa_ref": "A",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 1848,
"cds_end": null,
"cds_length": 2205,
"cds_start": 1248,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011515184.4",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Ala416Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513486.1",
"strand": false,
"transcript": "XM_011515184.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 734,
"aa_ref": "A",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2916,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 2205,
"cds_start": 1248,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047420030.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1248G>A",
"hgvs_p": "p.Ala416Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275986.1",
"strand": false,
"transcript": "XM_047420030.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 646,
"aa_ref": "A",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2652,
"cdna_start": 1616,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1164,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047420031.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1164G>A",
"hgvs_p": "p.Ala388Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275987.1",
"strand": false,
"transcript": "XM_047420031.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 433,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1618,
"cdna_start": 402,
"cds_end": null,
"cds_length": 1302,
"cds_start": 345,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_024446682.2",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.345G>A",
"hgvs_p": "p.Ala115Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024302450.1",
"strand": false,
"transcript": "XM_024446682.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 587,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": null,
"cds_end": null,
"cds_length": 1764,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011515186.3",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1681+284G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513488.1",
"strand": false,
"transcript": "XM_011515186.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 586,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2687,
"cdna_start": null,
"cds_end": null,
"cds_length": 1761,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047420032.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1678+284G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275988.1",
"strand": false,
"transcript": "XM_047420032.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 559,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2606,
"cdna_start": null,
"cds_end": null,
"cds_length": 1680,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017011836.3",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1597+284G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867325.1",
"strand": false,
"transcript": "XM_017011836.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 558,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": null,
"cds_end": null,
"cds_length": 1677,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047420033.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1594+284G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275989.1",
"strand": false,
"transcript": "XM_047420033.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4440,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000467558.5",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "n.3061G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000467558.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5226,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000469750.5",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "n.4261G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000469750.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2908,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NR_146879.2",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "n.1872G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_146879.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 666,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000473879.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "n.313+284G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000473879.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5360,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000493232.5",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "n.4476+284G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000493232.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs146276208",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0005658411,
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"gnomad_exomes_ac": 481,
"gnomad_exomes_af": 0.000329585,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_ac": 431,
"gnomad_genomes_af": 0.00282905,
"gnomad_genomes_homalt": 3,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 5,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "Neonatal-onset encephalopathy with rigidity and seizures|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -3.685,
"pos": 2539260,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001350626.2"
}
]
}