← 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: 15-40410721-GT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40410721&ref=GT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40410721,
"ref": "GT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000487418.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.381delT",
"hgvs_p": "p.Ala128fs",
"transcript": "NM_002225.5",
"protein_id": "NP_002216.3",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 423,
"cds_start": 381,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": "ENST00000487418.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.381delT",
"hgvs_p": "p.Ala128fs",
"transcript": "ENST00000487418.8",
"protein_id": "ENSP00000418397.3",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 423,
"cds_start": 381,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": "NM_002225.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.291delT",
"hgvs_p": "p.Ala98fs",
"transcript": "ENST00000479013.7",
"protein_id": "ENSP00000417990.3",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 393,
"cds_start": 291,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 4251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.381delT",
"hgvs_p": "p.Ala128fs",
"transcript": "NM_001354601.3",
"protein_id": "NP_001341530.2",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 484,
"cds_start": 381,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.468delT",
"hgvs_p": "p.Ala157fs",
"transcript": "NM_001354600.3",
"protein_id": "NP_001341529.2",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 473,
"cds_start": 468,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.468delT",
"hgvs_p": "p.Ala157fs",
"transcript": "NM_001354599.3",
"protein_id": "NP_001341528.2",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 452,
"cds_start": 468,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.381delT",
"hgvs_p": "p.Ala128fs",
"transcript": "NM_001354598.3",
"protein_id": "NP_001341527.2",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 444,
"cds_start": 381,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.390delT",
"hgvs_p": "p.Ala131fs",
"transcript": "ENST00000651168.1",
"protein_id": "ENSP00000499074.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 426,
"cds_start": 390,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 4665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.333delT",
"hgvs_p": "p.Ala112fs",
"transcript": "NM_001354597.3",
"protein_id": "NP_001341526.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 407,
"cds_start": 333,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.300delT",
"hgvs_p": "p.Ala101fs",
"transcript": "ENST00000650656.1",
"protein_id": "ENSP00000498731.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 396,
"cds_start": 300,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 4575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.291delT",
"hgvs_p": "p.Ala98fs",
"transcript": "NM_001159508.3",
"protein_id": "NP_001152980.2",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 393,
"cds_start": 291,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 4260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.138delT",
"hgvs_p": "p.Ala47fs",
"transcript": "ENST00000473112.6",
"protein_id": "ENSP00000417256.2",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 305,
"cds_start": 138,
"cds_end": null,
"cds_length": 918,
"cdna_start": 140,
"cdna_end": null,
"cdna_length": 920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.333delT",
"hgvs_p": "p.Ala112fs",
"transcript": "ENST00000558610.5",
"protein_id": "ENSP00000453821.1",
"transcript_support_level": 3,
"aa_start": 111,
"aa_end": null,
"aa_length": 211,
"cds_start": 333,
"cds_end": null,
"cds_length": 638,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.468delT",
"hgvs_p": "p.Ala157fs",
"transcript": "ENST00000610693.5",
"protein_id": "ENSP00000479359.2",
"transcript_support_level": 2,
"aa_start": 156,
"aa_end": null,
"aa_length": 210,
"cds_start": 468,
"cds_end": null,
"cds_length": 635,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.477delT",
"hgvs_p": "p.Ala160fs",
"transcript": "XM_017022149.2",
"protein_id": "XP_016877638.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 516,
"cds_start": 477,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.420delT",
"hgvs_p": "p.Ala141fs",
"transcript": "XM_047432460.1",
"protein_id": "XP_047288416.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 497,
"cds_start": 420,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.333delT",
"hgvs_p": "p.Ala112fs",
"transcript": "XM_047432461.1",
"protein_id": "XP_047288417.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 468,
"cds_start": 333,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.477delT",
"hgvs_p": "p.Ala160fs",
"transcript": "XM_017022153.2",
"protein_id": "XP_016877642.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 447,
"cds_start": 477,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.420delT",
"hgvs_p": "p.Ala141fs",
"transcript": "XM_017022154.3",
"protein_id": "XP_016877643.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 436,
"cds_start": 420,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 4816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.477delT",
"hgvs_p": "p.Ala160fs",
"transcript": "XM_017022155.3",
"protein_id": "XP_016877644.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 418,
"cds_start": 477,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.390delT",
"hgvs_p": "p.Ala131fs",
"transcript": "XM_047432462.1",
"protein_id": "XP_047288418.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 418,
"cds_start": 390,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.390delT",
"hgvs_p": "p.Ala131fs",
"transcript": "XM_047432463.1",
"protein_id": "XP_047288419.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 389,
"cds_start": 390,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.477delT",
"hgvs_p": "p.Ala160fs",
"transcript": "XM_017022157.2",
"protein_id": "XP_016877646.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 376,
"cds_start": 477,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.333delT",
"hgvs_p": "p.Ala112fs",
"transcript": "XM_047432464.1",
"protein_id": "XP_047288420.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 370,
"cds_start": 333,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 3679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.390delT",
"hgvs_p": "p.Ala131fs",
"transcript": "XM_006720495.4",
"protein_id": "XP_006720558.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 347,
"cds_start": 390,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.477delT",
"hgvs_p": "p.Ala160fs",
"transcript": "XM_017022158.3",
"protein_id": "XP_016877647.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 308,
"cds_start": 477,
"cds_end": null,
"cds_length": 927,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "n.4delT",
"hgvs_p": null,
"transcript": "ENST00000484250.1",
"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": 498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "n.793delT",
"hgvs_p": null,
"transcript": "NR_148925.2",
"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": 2476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "n.501delT",
"hgvs_p": null,
"transcript": "XR_007064441.1",
"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": 4399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "n.414delT",
"hgvs_p": null,
"transcript": "XR_007064442.1",
"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": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "n.-16delT",
"hgvs_p": null,
"transcript": "ENST00000481262.6",
"protein_id": "ENSP00000452949.1",
"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": 999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"dbsnp": "rs769048174",
"frequency_reference_population": 0.0000024781796,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205214,
"gnomad_genomes_af": 0.0000065703,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": -2.177,
"phylop100way_prediction": "Benign",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000487418.8",
"gene_symbol": "IVD",
"hgnc_id": 6186,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.381delT",
"hgvs_p": "p.Ala128fs"
}
],
"clinvar_disease": "Inborn genetic diseases,Isovaleryl-CoA dehydrogenase deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Isovaleryl-CoA dehydrogenase deficiency|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}