← 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: 15-76354014-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=76354014&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 76354014,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001353009.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3982A>C",
"hgvs_p": "p.Asn1328His",
"transcript": "NM_020843.4",
"protein_id": "NP_065894.2",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3982,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000563290.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020843.4"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3982A>C",
"hgvs_p": "p.Asn1328His",
"transcript": "ENST00000563290.6",
"protein_id": "ENSP00000454973.1",
"transcript_support_level": 5,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3982,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020843.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563290.6"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3982A>C",
"hgvs_p": "p.Asn1328His",
"transcript": "ENST00000324767.11",
"protein_id": "ENSP00000326924.7",
"transcript_support_level": 1,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3982,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324767.11"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3244A>C",
"hgvs_p": "p.Asn1082His",
"transcript": "ENST00000538941.6",
"protein_id": "ENSP00000442190.2",
"transcript_support_level": 1,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3244,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538941.6"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4000A>C",
"hgvs_p": "p.Asn1334His",
"transcript": "NM_001353009.2",
"protein_id": "NP_001339938.1",
"transcript_support_level": null,
"aa_start": 1334,
"aa_end": null,
"aa_length": 1406,
"cds_start": 4000,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353009.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4000A>C",
"hgvs_p": "p.Asn1334His",
"transcript": "ENST00000867409.1",
"protein_id": "ENSP00000537468.1",
"transcript_support_level": null,
"aa_start": 1334,
"aa_end": null,
"aa_length": 1406,
"cds_start": 4000,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867409.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4000A>C",
"hgvs_p": "p.Asn1334His",
"transcript": "ENST00000940731.1",
"protein_id": "ENSP00000610790.1",
"transcript_support_level": null,
"aa_start": 1334,
"aa_end": null,
"aa_length": 1406,
"cds_start": 4000,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940731.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3952A>C",
"hgvs_p": "p.Asn1318His",
"transcript": "ENST00000867408.1",
"protein_id": "ENSP00000537467.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 1390,
"cds_start": 3952,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867408.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3916A>C",
"hgvs_p": "p.Asn1306His",
"transcript": "ENST00000969238.1",
"protein_id": "ENSP00000639297.1",
"transcript_support_level": null,
"aa_start": 1306,
"aa_end": null,
"aa_length": 1378,
"cds_start": 3916,
"cds_end": null,
"cds_length": 4137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969238.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3826A>C",
"hgvs_p": "p.Asn1276His",
"transcript": "ENST00000969239.1",
"protein_id": "ENSP00000639298.1",
"transcript_support_level": null,
"aa_start": 1276,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3826,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969239.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3802A>C",
"hgvs_p": "p.Asn1268His",
"transcript": "ENST00000867407.1",
"protein_id": "ENSP00000537466.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1340,
"cds_start": 3802,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867407.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3793A>C",
"hgvs_p": "p.Asn1265His",
"transcript": "ENST00000969236.1",
"protein_id": "ENSP00000639295.1",
"transcript_support_level": null,
"aa_start": 1265,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3793,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969236.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3598A>C",
"hgvs_p": "p.Asn1200His",
"transcript": "NM_001353011.2",
"protein_id": "NP_001339940.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3598,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353011.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3580A>C",
"hgvs_p": "p.Asn1194His",
"transcript": "NM_001353010.2",
"protein_id": "NP_001339939.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3580,
"cds_end": null,
"cds_length": 3801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353010.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3580A>C",
"hgvs_p": "p.Asn1194His",
"transcript": "NM_001353012.2",
"protein_id": "NP_001339941.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3580,
"cds_end": null,
"cds_length": 3801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353012.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3535A>C",
"hgvs_p": "p.Asn1179His",
"transcript": "ENST00000940730.1",
"protein_id": "ENSP00000610789.1",
"transcript_support_level": null,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3535,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940730.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3244A>C",
"hgvs_p": "p.Asn1082His",
"transcript": "NM_001145923.2",
"protein_id": "NP_001139395.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3244,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145923.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2509A>C",
"hgvs_p": "p.Asn837His",
"transcript": "ENST00000969237.1",
"protein_id": "ENSP00000639296.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 909,
"cds_start": 2509,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969237.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4075A>C",
"hgvs_p": "p.Asn1359His",
"transcript": "XM_047432620.1",
"protein_id": "XP_047288576.1",
"transcript_support_level": null,
"aa_start": 1359,
"aa_end": null,
"aa_length": 1431,
"cds_start": 4075,
"cds_end": null,
"cds_length": 4296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432620.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.4057A>C",
"hgvs_p": "p.Asn1353His",
"transcript": "XM_047432621.1",
"protein_id": "XP_047288577.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 1425,
"cds_start": 4057,
"cds_end": null,
"cds_length": 4278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432621.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3952A>C",
"hgvs_p": "p.Asn1318His",
"transcript": "XM_047432622.1",
"protein_id": "XP_047288578.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 1390,
"cds_start": 3952,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432622.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3934A>C",
"hgvs_p": "p.Asn1312His",
"transcript": "XM_047432623.1",
"protein_id": "XP_047288579.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1384,
"cds_start": 3934,
"cds_end": null,
"cds_length": 4155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432623.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3919A>C",
"hgvs_p": "p.Asn1307His",
"transcript": "XM_047432624.1",
"protein_id": "XP_047288580.1",
"transcript_support_level": null,
"aa_start": 1307,
"aa_end": null,
"aa_length": 1379,
"cds_start": 3919,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432624.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3901A>C",
"hgvs_p": "p.Asn1301His",
"transcript": "XM_047432625.1",
"protein_id": "XP_047288581.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1373,
"cds_start": 3901,
"cds_end": null,
"cds_length": 4122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432625.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3826A>C",
"hgvs_p": "p.Asn1276His",
"transcript": "XM_047432626.1",
"protein_id": "XP_047288582.1",
"transcript_support_level": null,
"aa_start": 1276,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3826,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432626.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3598A>C",
"hgvs_p": "p.Asn1200His",
"transcript": "XM_011521653.4",
"protein_id": "XP_011519955.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1272,
"cds_start": 3598,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521653.4"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3580A>C",
"hgvs_p": "p.Asn1194His",
"transcript": "XM_017022273.2",
"protein_id": "XP_016877762.1",
"transcript_support_level": null,
"aa_start": 1194,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3580,
"cds_end": null,
"cds_length": 3801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022273.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.3262A>C",
"hgvs_p": "p.Asn1088His",
"transcript": "XM_047432627.1",
"protein_id": "XP_047288583.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3262,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432627.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.2140A>C",
"hgvs_p": "p.Asn714His",
"transcript": "XM_011521656.4",
"protein_id": "XP_011519958.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 786,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521656.4"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1906A>C",
"hgvs_p": "p.Asn636His",
"transcript": "XM_047432633.1",
"protein_id": "XP_047288589.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 708,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "n.638A>C",
"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": null,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "n.151A>C",
"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": null,
"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": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "n.4190A>C",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148227.2"
}
],
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"dbsnp": "rs779059483",
"frequency_reference_population": 0.000008093355,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000825265,
"gnomad_genomes_af": 0.00000657125,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7683491706848145,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.3,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2459,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.559,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001353009.2",
"gene_symbol": "SCAPER",
"hgnc_id": 13081,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4000A>C",
"hgvs_p": "p.Asn1334His"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}