← 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: 15-76348652-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=76348652&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 76348652,
"ref": "A",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001353009.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4184T>A",
"hgvs_p": "p.Leu1395*",
"transcript": "NM_020843.4",
"protein_id": "NP_065894.2",
"transcript_support_level": null,
"aa_start": 1395,
"aa_end": null,
"aa_length": 1400,
"cds_start": 4184,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 4285,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": "ENST00000563290.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020843.4"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4184T>A",
"hgvs_p": "p.Leu1395*",
"transcript": "ENST00000563290.6",
"protein_id": "ENSP00000454973.1",
"transcript_support_level": 5,
"aa_start": 1395,
"aa_end": null,
"aa_length": 1400,
"cds_start": 4184,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 4285,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": "NM_020843.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563290.6"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4184T>A",
"hgvs_p": "p.Leu1395*",
"transcript": "ENST00000324767.11",
"protein_id": "ENSP00000326924.7",
"transcript_support_level": 1,
"aa_start": 1395,
"aa_end": null,
"aa_length": 1400,
"cds_start": 4184,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 4243,
"cdna_end": null,
"cdna_length": 4707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324767.11"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3446T>A",
"hgvs_p": "p.Leu1149*",
"transcript": "ENST00000538941.6",
"protein_id": "ENSP00000442190.2",
"transcript_support_level": 1,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3446,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 4386,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538941.6"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4202T>A",
"hgvs_p": "p.Leu1401*",
"transcript": "NM_001353009.2",
"protein_id": "NP_001339938.1",
"transcript_support_level": null,
"aa_start": 1401,
"aa_end": null,
"aa_length": 1406,
"cds_start": 4202,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 4481,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353009.2"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4202T>A",
"hgvs_p": "p.Leu1401*",
"transcript": "ENST00000867409.1",
"protein_id": "ENSP00000537468.1",
"transcript_support_level": null,
"aa_start": 1401,
"aa_end": null,
"aa_length": 1406,
"cds_start": 4202,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 4762,
"cdna_end": null,
"cdna_length": 5122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867409.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4202T>A",
"hgvs_p": "p.Leu1401*",
"transcript": "ENST00000940731.1",
"protein_id": "ENSP00000610790.1",
"transcript_support_level": null,
"aa_start": 1401,
"aa_end": null,
"aa_length": 1406,
"cds_start": 4202,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 4416,
"cdna_end": null,
"cdna_length": 4868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940731.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4154T>A",
"hgvs_p": "p.Leu1385*",
"transcript": "ENST00000867408.1",
"protein_id": "ENSP00000537467.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1390,
"cds_start": 4154,
"cds_end": null,
"cds_length": 4173,
"cdna_start": 4250,
"cdna_end": null,
"cdna_length": 4611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867408.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4118T>A",
"hgvs_p": "p.Leu1373*",
"transcript": "ENST00000969238.1",
"protein_id": "ENSP00000639297.1",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1378,
"cds_start": 4118,
"cds_end": null,
"cds_length": 4137,
"cdna_start": 4248,
"cdna_end": null,
"cdna_length": 4703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969238.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4028T>A",
"hgvs_p": "p.Leu1343*",
"transcript": "ENST00000969239.1",
"protein_id": "ENSP00000639298.1",
"transcript_support_level": null,
"aa_start": 1343,
"aa_end": null,
"aa_length": 1348,
"cds_start": 4028,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 4129,
"cdna_end": null,
"cdna_length": 4584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969239.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4004T>A",
"hgvs_p": "p.Leu1335*",
"transcript": "ENST00000867407.1",
"protein_id": "ENSP00000537466.1",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1340,
"cds_start": 4004,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 4283,
"cdna_end": null,
"cdna_length": 4737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867407.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3995T>A",
"hgvs_p": "p.Leu1332*",
"transcript": "ENST00000969236.1",
"protein_id": "ENSP00000639295.1",
"transcript_support_level": null,
"aa_start": 1332,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3995,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 4726,
"cdna_end": null,
"cdna_length": 5181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969236.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3800T>A",
"hgvs_p": "p.Leu1267*",
"transcript": "NM_001353011.2",
"protein_id": "NP_001339940.1",
"transcript_support_level": null,
"aa_start": 1267,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3800,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 4421,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353011.2"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3782T>A",
"hgvs_p": "p.Leu1261*",
"transcript": "NM_001353010.2",
"protein_id": "NP_001339939.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3782,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 4446,
"cdna_end": null,
"cdna_length": 5194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353010.2"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3782T>A",
"hgvs_p": "p.Leu1261*",
"transcript": "NM_001353012.2",
"protein_id": "NP_001339941.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3782,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 4373,
"cdna_end": null,
"cdna_length": 5121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353012.2"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3737T>A",
"hgvs_p": "p.Leu1246*",
"transcript": "ENST00000940730.1",
"protein_id": "ENSP00000610789.1",
"transcript_support_level": null,
"aa_start": 1246,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3737,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 3827,
"cdna_end": null,
"cdna_length": 4279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940730.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3446T>A",
"hgvs_p": "p.Leu1149*",
"transcript": "NM_001145923.2",
"protein_id": "NP_001139395.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3446,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 4386,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145923.2"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2711T>A",
"hgvs_p": "p.Leu904*",
"transcript": "ENST00000969237.1",
"protein_id": "ENSP00000639296.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 909,
"cds_start": 2711,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2860,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969237.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4277T>A",
"hgvs_p": "p.Leu1426*",
"transcript": "XM_047432620.1",
"protein_id": "XP_047288576.1",
"transcript_support_level": null,
"aa_start": 1426,
"aa_end": null,
"aa_length": 1431,
"cds_start": 4277,
"cds_end": null,
"cds_length": 4296,
"cdna_start": 4363,
"cdna_end": null,
"cdna_length": 5111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432620.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4259T>A",
"hgvs_p": "p.Leu1420*",
"transcript": "XM_047432621.1",
"protein_id": "XP_047288577.1",
"transcript_support_level": null,
"aa_start": 1420,
"aa_end": null,
"aa_length": 1425,
"cds_start": 4259,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 4345,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432621.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4154T>A",
"hgvs_p": "p.Leu1385*",
"transcript": "XM_047432622.1",
"protein_id": "XP_047288578.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1390,
"cds_start": 4154,
"cds_end": null,
"cds_length": 4173,
"cdna_start": 4291,
"cdna_end": null,
"cdna_length": 5039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432622.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4136T>A",
"hgvs_p": "p.Leu1379*",
"transcript": "XM_047432623.1",
"protein_id": "XP_047288579.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1384,
"cds_start": 4136,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 4273,
"cdna_end": null,
"cdna_length": 5021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432623.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4121T>A",
"hgvs_p": "p.Leu1374*",
"transcript": "XM_047432624.1",
"protein_id": "XP_047288580.1",
"transcript_support_level": null,
"aa_start": 1374,
"aa_end": null,
"aa_length": 1379,
"cds_start": 4121,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 4207,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432624.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4103T>A",
"hgvs_p": "p.Leu1368*",
"transcript": "XM_047432625.1",
"protein_id": "XP_047288581.1",
"transcript_support_level": null,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1373,
"cds_start": 4103,
"cds_end": null,
"cds_length": 4122,
"cdna_start": 4189,
"cdna_end": null,
"cdna_length": 4937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432625.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4028T>A",
"hgvs_p": "p.Leu1343*",
"transcript": "XM_047432626.1",
"protein_id": "XP_047288582.1",
"transcript_support_level": null,
"aa_start": 1343,
"aa_end": null,
"aa_length": 1348,
"cds_start": 4028,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 4087,
"cdna_end": null,
"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432626.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3800T>A",
"hgvs_p": "p.Leu1267*",
"transcript": "XM_011521653.4",
"protein_id": "XP_011519955.1",
"transcript_support_level": null,
"aa_start": 1267,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3800,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 4185,
"cdna_end": null,
"cdna_length": 4933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521653.4"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3782T>A",
"hgvs_p": "p.Leu1261*",
"transcript": "XM_017022273.2",
"protein_id": "XP_016877762.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3782,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 4167,
"cdna_end": null,
"cdna_length": 4915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022273.2"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3464T>A",
"hgvs_p": "p.Leu1155*",
"transcript": "XM_047432627.1",
"protein_id": "XP_047288583.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3464,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3560,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432627.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2342T>A",
"hgvs_p": "p.Leu781*",
"transcript": "XM_011521656.4",
"protein_id": "XP_011519958.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 786,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521656.4"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2108T>A",
"hgvs_p": "p.Leu703*",
"transcript": "XM_047432633.1",
"protein_id": "XP_047288589.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 708,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 3214,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432633.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "n.3340T>A",
"hgvs_p": null,
"transcript": "ENST00000562948.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000562948.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "n.353T>A",
"hgvs_p": null,
"transcript": "ENST00000563246.1",
"protein_id": null,
"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": 552,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000563246.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "n.4392T>A",
"hgvs_p": null,
"transcript": "NR_148227.2",
"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": 5140,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148227.2"
}
],
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"dbsnp": "rs2040327882",
"frequency_reference_population": 7.1644837e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.16448e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.166,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001353009.2",
"gene_symbol": "SCAPER",
"hgnc_id": 13081,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4202T>A",
"hgvs_p": "p.Leu1401*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}