← 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: 7-2547434-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2547434&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2547434,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_001350626.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "NM_152743.4",
"protein_id": "NP_689956.2",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 821,
"cds_start": 171,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "ENST00000340611.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152743.4"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000340611.9",
"protein_id": "ENSP00000339637.4",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 821,
"cds_start": 171,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "NM_152743.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340611.9"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890463.1",
"protein_id": "ENSP00000560522.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 900,
"cds_start": 171,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890463.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000917322.1",
"protein_id": "ENSP00000587381.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 899,
"cds_start": 171,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917322.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890472.1",
"protein_id": "ENSP00000560531.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 890,
"cds_start": 171,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 2925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890472.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000917323.1",
"protein_id": "ENSP00000587382.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 885,
"cds_start": 171,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 2927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917323.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "NM_001350626.2",
"protein_id": "NP_001337555.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 881,
"cds_start": 171,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350626.2"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890462.1",
"protein_id": "ENSP00000560521.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 881,
"cds_start": 171,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890462.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890481.1",
"protein_id": "ENSP00000560540.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 881,
"cds_start": 171,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890481.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890470.1",
"protein_id": "ENSP00000560529.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 880,
"cds_start": 171,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890470.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890464.1",
"protein_id": "ENSP00000560523.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 868,
"cds_start": 171,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 3121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890464.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000970715.1",
"protein_id": "ENSP00000640774.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 860,
"cds_start": 171,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970715.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000917321.1",
"protein_id": "ENSP00000587380.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 856,
"cds_start": 171,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917321.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890468.1",
"protein_id": "ENSP00000560527.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 849,
"cds_start": 171,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890468.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000917319.1",
"protein_id": "ENSP00000587378.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 848,
"cds_start": 171,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917319.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.228delG",
"hgvs_p": "p.Glu76fs",
"transcript": "ENST00000890471.1",
"protein_id": "ENSP00000560530.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 840,
"cds_start": 228,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890471.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890484.1",
"protein_id": "ENSP00000560543.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 840,
"cds_start": 171,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890484.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000970714.1",
"protein_id": "ENSP00000640773.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 840,
"cds_start": 171,
"cds_end": null,
"cds_length": 2523,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970714.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890474.1",
"protein_id": "ENSP00000560533.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 839,
"cds_start": 171,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890474.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890475.1",
"protein_id": "ENSP00000560534.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 839,
"cds_start": 171,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 2767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890475.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000917329.1",
"protein_id": "ENSP00000587388.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 837,
"cds_start": 171,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 2748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917329.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890476.1",
"protein_id": "ENSP00000560535.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 832,
"cds_start": 171,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890476.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000917327.1",
"protein_id": "ENSP00000587386.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 831,
"cds_start": 171,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 3166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917327.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000970712.1",
"protein_id": "ENSP00000640771.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 831,
"cds_start": 171,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970712.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890473.1",
"protein_id": "ENSP00000560532.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 821,
"cds_start": 171,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890473.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890478.1",
"protein_id": "ENSP00000560537.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 821,
"cds_start": 171,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890478.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000917326.1",
"protein_id": "ENSP00000587385.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 821,
"cds_start": 171,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917326.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890466.1",
"protein_id": "ENSP00000560525.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 820,
"cds_start": 171,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890466.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890482.1",
"protein_id": "ENSP00000560541.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 820,
"cds_start": 171,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890482.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890483.1",
"protein_id": "ENSP00000560542.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 820,
"cds_start": 171,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890483.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000970716.1",
"protein_id": "ENSP00000640775.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 819,
"cds_start": 171,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970716.1"
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.310delG",
"hgvs_p": "p.Ala104fs",
"transcript": "ENST00000917330.1",
"protein_id": "ENSP00000587389.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 818,
"cds_start": 310,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917330.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890465.1",
"protein_id": "ENSP00000560524.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 811,
"cds_start": 171,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 2947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890465.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890480.1",
"protein_id": "ENSP00000560539.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 810,
"cds_start": 171,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890480.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890467.1",
"protein_id": "ENSP00000560526.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 809,
"cds_start": 171,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890467.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000917328.1",
"protein_id": "ENSP00000587387.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 809,
"cds_start": 171,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917328.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890477.1",
"protein_id": "ENSP00000560536.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 789,
"cds_start": 171,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890477.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000970713.1",
"protein_id": "ENSP00000640772.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 788,
"cds_start": 171,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970713.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000890479.1",
"protein_id": "ENSP00000560538.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 780,
"cds_start": 171,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890479.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000970718.1",
"protein_id": "ENSP00000640777.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 777,
"cds_start": 171,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970718.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000970719.1",
"protein_id": "ENSP00000640778.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 775,
"cds_start": 171,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970719.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000917325.1",
"protein_id": "ENSP00000587384.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 771,
"cds_start": 171,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 2556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917325.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000970717.1",
"protein_id": "ENSP00000640776.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 762,
"cds_start": 171,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970717.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000917320.1",
"protein_id": "ENSP00000587379.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 734,
"cds_start": 171,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917320.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "ENST00000917324.1",
"protein_id": "ENSP00000587383.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 717,
"cds_start": 171,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917324.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "XM_011515177.3",
"protein_id": "XP_011513479.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 909,
"cds_start": 171,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515177.3"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "XM_011515178.2",
"protein_id": "XP_011513480.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 909,
"cds_start": 171,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515178.2"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "XM_011515179.3",
"protein_id": "XP_011513481.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 908,
"cds_start": 171,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515179.3"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "XM_047420028.1",
"protein_id": "XP_047275984.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 880,
"cds_start": 171,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420028.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "XM_011515181.3",
"protein_id": "XP_011513483.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 849,
"cds_start": 171,
"cds_end": null,
"cds_length": 2550,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515181.3"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "XM_017011834.2",
"protein_id": "XP_016867323.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 820,
"cds_start": 171,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011834.2"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "XM_011515186.3",
"protein_id": "XP_011513488.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 587,
"cds_start": 171,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515186.3"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "XM_047420032.1",
"protein_id": "XP_047275988.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 586,
"cds_start": 171,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420032.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "XM_017011836.3",
"protein_id": "XP_016867325.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 559,
"cds_start": 171,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011836.3"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "XM_047420033.1",
"protein_id": "XP_047275989.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 558,
"cds_start": 171,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420033.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "XM_047420034.1",
"protein_id": "XP_047275990.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 529,
"cds_start": 171,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420034.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "XM_047420035.1",
"protein_id": "XP_047275991.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 514,
"cds_start": 171,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420035.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs",
"transcript": "XM_047420036.1",
"protein_id": "XP_047275992.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 494,
"cds_start": 171,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420036.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.-207delG",
"hgvs_p": null,
"transcript": "NM_001350627.2",
"protein_id": "NP_001337556.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350627.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.-355delG",
"hgvs_p": null,
"transcript": "XM_011515184.4",
"protein_id": "XP_011513486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 734,
"cds_start": null,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515184.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.-207delG",
"hgvs_p": null,
"transcript": "XM_047420030.1",
"protein_id": "XP_047275986.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 734,
"cds_start": null,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420030.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.-207delG",
"hgvs_p": null,
"transcript": "XM_047420031.1",
"protein_id": "XP_047275987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420031.1"
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "c.128-3473delG",
"hgvs_p": null,
"transcript": "ENST00000890469.1",
"protein_id": "ENSP00000560528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 720,
"cds_start": null,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890469.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.171delG",
"hgvs_p": null,
"transcript": "ENST00000421712.1",
"protein_id": "ENSP00000409209.2",
"transcript_support_level": 3,
"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": 823,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000421712.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.187delG",
"hgvs_p": null,
"transcript": "ENST00000467558.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 4440,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000467558.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.395delG",
"hgvs_p": null,
"transcript": "ENST00000469750.5",
"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": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000469750.5"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"hgvs_c": "n.230delG",
"hgvs_p": null,
"transcript": "NR_146879.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146879.2"
}
],
"gene_symbol": "BRAT1",
"gene_hgnc_id": 21701,
"dbsnp": "rs1554297097",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.41,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.16,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001350626.2",
"gene_symbol": "BRAT1",
"hgnc_id": 21701,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.171delG",
"hgvs_p": "p.Glu57fs"
}
],
"clinvar_disease": "Neonatal-onset encephalopathy with rigidity and seizures",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Neonatal-onset encephalopathy with rigidity and seizures",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}