← 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: 4-122207168-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=122207168&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 122207168,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001384125.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "NM_001384125.1",
"protein_id": "NP_001371054.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5093,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000679879.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384125.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "ENST00000679879.1",
"protein_id": "ENSP00000505357.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5093,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001384125.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679879.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "ENST00000388738.8",
"protein_id": "ENSP00000373390.4",
"transcript_support_level": 1,
"aa_start": 519,
"aa_end": null,
"aa_length": 4890,
"cds_start": 1557,
"cds_end": null,
"cds_length": 14673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388738.8"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "NM_015312.4",
"protein_id": "NP_056127.2",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5005,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015312.4"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "ENST00000264501.8",
"protein_id": "ENSP00000264501.4",
"transcript_support_level": 5,
"aa_start": 519,
"aa_end": null,
"aa_length": 5005,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264501.8"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_011532320.4",
"protein_id": "XP_011530622.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5093,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532320.4"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416251.1",
"protein_id": "XP_047272207.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5093,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416251.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416252.1",
"protein_id": "XP_047272208.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5093,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416252.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416253.1",
"protein_id": "XP_047272209.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5093,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416253.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416254.1",
"protein_id": "XP_047272210.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5093,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416254.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_011532322.2",
"protein_id": "XP_011530624.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5092,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532322.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416255.1",
"protein_id": "XP_047272211.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5092,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416255.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416256.1",
"protein_id": "XP_047272212.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5092,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416256.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416257.1",
"protein_id": "XP_047272213.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5092,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416257.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416258.1",
"protein_id": "XP_047272214.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5092,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416258.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_011532323.2",
"protein_id": "XP_011530625.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5076,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532323.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_011532324.2",
"protein_id": "XP_011530626.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5072,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532324.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_011532325.2",
"protein_id": "XP_011530627.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5058,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532325.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_011532326.2",
"protein_id": "XP_011530628.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5050,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532326.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416259.1",
"protein_id": "XP_047272215.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5050,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416259.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416260.1",
"protein_id": "XP_047272216.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5050,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416260.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416261.1",
"protein_id": "XP_047272217.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5049,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416261.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416262.1",
"protein_id": "XP_047272218.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5049,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416262.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416263.1",
"protein_id": "XP_047272219.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5049,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416263.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1407T>A",
"hgvs_p": "p.Tyr469*",
"transcript": "XM_047416264.1",
"protein_id": "XP_047272220.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 5043,
"cds_start": 1407,
"cds_end": null,
"cds_length": 15132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416264.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416265.1",
"protein_id": "XP_047272221.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5037,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416265.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_005263282.2",
"protein_id": "XP_005263339.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5026,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263282.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416266.1",
"protein_id": "XP_047272222.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5009,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416266.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_005263287.2",
"protein_id": "XP_005263344.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5005,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263287.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_006714344.2",
"protein_id": "XP_006714407.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 5004,
"cds_start": 1557,
"cds_end": null,
"cds_length": 15015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714344.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_017008695.2",
"protein_id": "XP_016864184.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 4991,
"cds_start": 1557,
"cds_end": null,
"cds_length": 14976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008695.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416267.1",
"protein_id": "XP_047272223.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 4988,
"cds_start": 1557,
"cds_end": null,
"cds_length": 14967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416267.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416268.1",
"protein_id": "XP_047272224.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 4974,
"cds_start": 1557,
"cds_end": null,
"cds_length": 14925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416268.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416269.1",
"protein_id": "XP_047272225.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 4973,
"cds_start": 1557,
"cds_end": null,
"cds_length": 14922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416269.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_017008697.2",
"protein_id": "XP_016864186.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 4970,
"cds_start": 1557,
"cds_end": null,
"cds_length": 14913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008697.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416270.1",
"protein_id": "XP_047272226.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 4965,
"cds_start": 1557,
"cds_end": null,
"cds_length": 14898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416270.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416271.1",
"protein_id": "XP_047272227.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 4953,
"cds_start": 1557,
"cds_end": null,
"cds_length": 14862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416271.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.819T>A",
"hgvs_p": "p.Tyr273*",
"transcript": "XM_047416272.1",
"protein_id": "XP_047272228.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 4847,
"cds_start": 819,
"cds_end": null,
"cds_length": 14544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416272.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416273.1",
"protein_id": "XP_047272229.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 4707,
"cds_start": 1557,
"cds_end": null,
"cds_length": 14124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416273.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416275.1",
"protein_id": "XP_047272231.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 3769,
"cds_start": 1557,
"cds_end": null,
"cds_length": 11310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416275.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416276.1",
"protein_id": "XP_047272232.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 3748,
"cds_start": 1557,
"cds_end": null,
"cds_length": 11247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416276.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_047416277.1",
"protein_id": "XP_047272233.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 3681,
"cds_start": 1557,
"cds_end": null,
"cds_length": 11046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416277.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*",
"transcript": "XM_017008699.2",
"protein_id": "XP_016864188.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 2859,
"cds_start": 1557,
"cds_end": null,
"cds_length": 8580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008699.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "n.391T>A",
"hgvs_p": null,
"transcript": "ENST00000495260.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000495260.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "n.1880T>A",
"hgvs_p": null,
"transcript": "ENST00000684987.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684987.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "n.1880T>A",
"hgvs_p": null,
"transcript": "ENST00000686075.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000686075.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "n.1698T>A",
"hgvs_p": null,
"transcript": "ENST00000687476.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000687476.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "n.1880T>A",
"hgvs_p": null,
"transcript": "ENST00000688884.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000688884.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "n.956T>A",
"hgvs_p": null,
"transcript": "ENST00000690050.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000690050.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "n.1880T>A",
"hgvs_p": null,
"transcript": "ENST00000690536.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000690536.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "n.1880T>A",
"hgvs_p": null,
"transcript": "ENST00000693334.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000693334.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "n.1557T>A",
"hgvs_p": null,
"transcript": "ENST00000693420.1",
"protein_id": "ENSP00000509435.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000693420.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "n.1932T>A",
"hgvs_p": null,
"transcript": "XR_938783.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_938783.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.-95T>A",
"hgvs_p": null,
"transcript": "XM_011532330.2",
"protein_id": "XP_011530632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4510,
"cds_start": null,
"cds_end": null,
"cds_length": 13533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532330.2"
}
],
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"dbsnp": "rs730882245",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.296999990940094,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.297,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.738,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001384125.1",
"gene_symbol": "BLTP1",
"hgnc_id": 26953,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Tyr519*"
}
],
"clinvar_disease": "6 conditions,Alkuraya-Kucinskas syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "6 conditions|Alkuraya-Kucinskas syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}