← 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: 15-76753812-GCTT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=76753812&ref=GCTT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 76753812,
"ref": "GCTT",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000563290.6",
"consequences": [
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1859_1861delAAG",
"hgvs_p": "p.Glu620del",
"transcript": "NM_020843.4",
"protein_id": "NP_065894.2",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 1400,
"cds_start": 1859,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": "ENST00000563290.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1859_1861delAAG",
"hgvs_p": "p.Glu620del",
"transcript": "ENST00000563290.6",
"protein_id": "ENSP00000454973.1",
"transcript_support_level": 5,
"aa_start": 620,
"aa_end": null,
"aa_length": 1400,
"cds_start": 1859,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": "NM_020843.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1859_1861delAAG",
"hgvs_p": "p.Glu620del",
"transcript": "ENST00000324767.11",
"protein_id": "ENSP00000326924.7",
"transcript_support_level": 1,
"aa_start": 620,
"aa_end": null,
"aa_length": 1400,
"cds_start": 1859,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 4707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1121_1123delAAG",
"hgvs_p": "p.Glu374del",
"transcript": "ENST00000538941.6",
"protein_id": "ENSP00000442190.2",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1121,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2063,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1877_1879delAAG",
"hgvs_p": "p.Glu626del",
"transcript": "NM_001353009.2",
"protein_id": "NP_001339938.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 1406,
"cds_start": 1877,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1475_1477delAAG",
"hgvs_p": "p.Glu492del",
"transcript": "NM_001353011.2",
"protein_id": "NP_001339940.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 1272,
"cds_start": 1475,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1457_1459delAAG",
"hgvs_p": "p.Glu486del",
"transcript": "NM_001353010.2",
"protein_id": "NP_001339939.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 1266,
"cds_start": 1457,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 2123,
"cdna_end": null,
"cdna_length": 5194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1457_1459delAAG",
"hgvs_p": "p.Glu486del",
"transcript": "NM_001353012.2",
"protein_id": "NP_001339941.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 1266,
"cds_start": 1457,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 5121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1121_1123delAAG",
"hgvs_p": "p.Glu374del",
"transcript": "NM_001145923.2",
"protein_id": "NP_001139395.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 1154,
"cds_start": 1121,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2063,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1877_1879delAAG",
"hgvs_p": "p.Glu626del",
"transcript": "ENST00000564590.5",
"protein_id": "ENSP00000456508.1",
"transcript_support_level": 2,
"aa_start": 626,
"aa_end": null,
"aa_length": 766,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2302,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1877_1879delAAG",
"hgvs_p": "p.Glu626del",
"transcript": "ENST00000565970.5",
"protein_id": "ENSP00000455378.1",
"transcript_support_level": 5,
"aa_start": 626,
"aa_end": null,
"aa_length": 746,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2242,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1952_1954delAAG",
"hgvs_p": "p.Glu651del",
"transcript": "XM_047432620.1",
"protein_id": "XP_047288576.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 1431,
"cds_start": 1952,
"cds_end": null,
"cds_length": 4296,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 5111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1934_1936delAAG",
"hgvs_p": "p.Glu645del",
"transcript": "XM_047432621.1",
"protein_id": "XP_047288577.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1425,
"cds_start": 1934,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1829_1831delAAG",
"hgvs_p": "p.Glu610del",
"transcript": "XM_047432622.1",
"protein_id": "XP_047288578.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1390,
"cds_start": 1829,
"cds_end": null,
"cds_length": 4173,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 5039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1811_1813delAAG",
"hgvs_p": "p.Glu604del",
"transcript": "XM_047432623.1",
"protein_id": "XP_047288579.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 1384,
"cds_start": 1811,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 5021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1952_1954delAAG",
"hgvs_p": "p.Glu651del",
"transcript": "XM_047432624.1",
"protein_id": "XP_047288580.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 1379,
"cds_start": 1952,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1934_1936delAAG",
"hgvs_p": "p.Glu645del",
"transcript": "XM_047432625.1",
"protein_id": "XP_047288581.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1373,
"cds_start": 1934,
"cds_end": null,
"cds_length": 4122,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 4937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1859_1861delAAG",
"hgvs_p": "p.Glu620del",
"transcript": "XM_047432626.1",
"protein_id": "XP_047288582.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 1348,
"cds_start": 1859,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1475_1477delAAG",
"hgvs_p": "p.Glu492del",
"transcript": "XM_011521653.4",
"protein_id": "XP_011519955.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 1272,
"cds_start": 1475,
"cds_end": null,
"cds_length": 3819,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 4933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1457_1459delAAG",
"hgvs_p": "p.Glu486del",
"transcript": "XM_017022273.2",
"protein_id": "XP_016877762.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 1266,
"cds_start": 1457,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 4915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1139_1141delAAG",
"hgvs_p": "p.Glu380del",
"transcript": "XM_047432627.1",
"protein_id": "XP_047288583.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 1160,
"cds_start": 1139,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1952_1954delAAG",
"hgvs_p": "p.Glu651del",
"transcript": "XM_024449940.2",
"protein_id": "XP_024305708.2",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 1066,
"cds_start": 1952,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 11512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1952_1954delAAG",
"hgvs_p": "p.Glu651del",
"transcript": "XM_024449941.2",
"protein_id": "XP_024305709.2",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 1066,
"cds_start": 1952,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1952_1954delAAG",
"hgvs_p": "p.Glu651del",
"transcript": "XM_024449942.2",
"protein_id": "XP_024305710.2",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 1065,
"cds_start": 1952,
"cds_end": null,
"cds_length": 3198,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 3947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1934_1936delAAG",
"hgvs_p": "p.Glu645del",
"transcript": "XM_047432628.1",
"protein_id": "XP_047288584.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1060,
"cds_start": 1934,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1952_1954delAAG",
"hgvs_p": "p.Glu651del",
"transcript": "XM_047432629.1",
"protein_id": "XP_047288585.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 1058,
"cds_start": 1952,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1952_1954delAAG",
"hgvs_p": "p.Glu651del",
"transcript": "XM_047432630.1",
"protein_id": "XP_047288586.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 1009,
"cds_start": 1952,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 3153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1952_1954delAAG",
"hgvs_p": "p.Glu651del",
"transcript": "XM_024449944.2",
"protein_id": "XP_024305712.2",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 892,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 6737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1934_1936delAAG",
"hgvs_p": "p.Glu645del",
"transcript": "XM_047432631.1",
"protein_id": "XP_047288587.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 886,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 6719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1859_1861delAAG",
"hgvs_p": "p.Glu620del",
"transcript": "XM_017022283.2",
"protein_id": "XP_016877772.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 861,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 6617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "c.1457_1459delAAG",
"hgvs_p": "p.Glu486del",
"transcript": "XM_047432632.1",
"protein_id": "XP_047288588.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 727,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 6541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1952_1954delAAG",
"hgvs_p": "p.Glu651del",
"transcript": "XM_047432634.1",
"protein_id": "XP_047288590.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 700,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "n.1923_1925delAAG",
"hgvs_p": null,
"transcript": "ENST00000303521.10",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "n.*1698_*1700delAAG",
"hgvs_p": null,
"transcript": "ENST00000565507.5",
"protein_id": "ENSP00000455623.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "n.2017_2019delAAG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "n.2038_2040delAAG",
"hgvs_p": null,
"transcript": "XR_007064448.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"hgvs_c": "n.*1698_*1700delAAG",
"hgvs_p": null,
"transcript": "ENST00000565507.5",
"protein_id": "ENSP00000455623.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCAPER",
"gene_hgnc_id": 13081,
"dbsnp": "rs1395475624",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.792,
"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": "PM2,PM4_Supporting,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000563290.6",
"gene_symbol": "SCAPER",
"hgnc_id": 13081,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1859_1861delAAG",
"hgvs_p": "p.Glu620del"
}
],
"clinvar_disease": " IDDRP, moderate,Intellectual developmental disorder and retinitis pigmentosa,Intellectual disability,Rod-cone dystrophy",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability, moderate;Rod-cone dystrophy|Intellectual developmental disorder and retinitis pigmentosa; IDDRP",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}