← 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: 15-40414952-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40414952&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40414952,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001354601.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.848A>T",
"hgvs_p": "p.Glu283Val",
"transcript": "NM_002225.5",
"protein_id": "NP_002216.3",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 423,
"cds_start": 848,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000487418.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002225.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.848A>T",
"hgvs_p": "p.Glu283Val",
"transcript": "ENST00000487418.8",
"protein_id": "ENSP00000418397.3",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 423,
"cds_start": 848,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002225.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487418.8"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.758A>T",
"hgvs_p": "p.Glu253Val",
"transcript": "ENST00000479013.7",
"protein_id": "ENSP00000417990.3",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 393,
"cds_start": 758,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479013.7"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.848A>T",
"hgvs_p": "p.Glu283Val",
"transcript": "NM_001354601.3",
"protein_id": "NP_001341530.2",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 484,
"cds_start": 848,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354601.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.1001A>T",
"hgvs_p": "p.Glu334Val",
"transcript": "ENST00000868500.1",
"protein_id": "ENSP00000538559.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 474,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868500.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.935A>T",
"hgvs_p": "p.Glu312Val",
"transcript": "NM_001354600.3",
"protein_id": "NP_001341529.2",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 473,
"cds_start": 935,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354600.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.935A>T",
"hgvs_p": "p.Glu312Val",
"transcript": "NM_001354599.3",
"protein_id": "NP_001341528.2",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 452,
"cds_start": 935,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354599.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.848A>T",
"hgvs_p": "p.Glu283Val",
"transcript": "NM_001354598.3",
"protein_id": "NP_001341527.2",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 444,
"cds_start": 848,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354598.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.872A>T",
"hgvs_p": "p.Glu291Val",
"transcript": "ENST00000868497.1",
"protein_id": "ENSP00000538556.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 431,
"cds_start": 872,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868497.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.866A>T",
"hgvs_p": "p.Glu289Val",
"transcript": "ENST00000966717.1",
"protein_id": "ENSP00000636776.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 429,
"cds_start": 866,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966717.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Glu288Val",
"transcript": "ENST00000868496.1",
"protein_id": "ENSP00000538555.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 428,
"cds_start": 863,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868496.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.857A>T",
"hgvs_p": "p.Glu286Val",
"transcript": "ENST00000651168.1",
"protein_id": "ENSP00000499074.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 426,
"cds_start": 857,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651168.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.839A>T",
"hgvs_p": "p.Glu280Val",
"transcript": "ENST00000868499.1",
"protein_id": "ENSP00000538558.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 420,
"cds_start": 839,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868499.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.800A>T",
"hgvs_p": "p.Glu267Val",
"transcript": "NM_001354597.3",
"protein_id": "NP_001341526.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 407,
"cds_start": 800,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354597.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.767A>T",
"hgvs_p": "p.Glu256Val",
"transcript": "ENST00000650656.1",
"protein_id": "ENSP00000498731.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 396,
"cds_start": 767,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650656.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.764A>T",
"hgvs_p": "p.Glu255Val",
"transcript": "ENST00000868498.1",
"protein_id": "ENSP00000538557.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 395,
"cds_start": 764,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868498.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.764A>T",
"hgvs_p": "p.Glu255Val",
"transcript": "ENST00000966716.1",
"protein_id": "ENSP00000636775.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 395,
"cds_start": 764,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966716.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.758A>T",
"hgvs_p": "p.Glu253Val",
"transcript": "NM_001159508.3",
"protein_id": "NP_001152980.2",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 393,
"cds_start": 758,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159508.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.605A>T",
"hgvs_p": "p.Glu202Val",
"transcript": "ENST00000473112.6",
"protein_id": "ENSP00000417256.2",
"transcript_support_level": 5,
"aa_start": 202,
"aa_end": null,
"aa_length": 305,
"cds_start": 605,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473112.6"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.245A>T",
"hgvs_p": "p.Glu82Val",
"transcript": "ENST00000491554.6",
"protein_id": "ENSP00000453146.1",
"transcript_support_level": 3,
"aa_start": 82,
"aa_end": null,
"aa_length": 243,
"cds_start": 245,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491554.6"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.944A>T",
"hgvs_p": "p.Glu315Val",
"transcript": "XM_017022149.2",
"protein_id": "XP_016877638.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 516,
"cds_start": 944,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022149.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Glu296Val",
"transcript": "XM_047432460.1",
"protein_id": "XP_047288416.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 497,
"cds_start": 887,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432460.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.800A>T",
"hgvs_p": "p.Glu267Val",
"transcript": "XM_047432461.1",
"protein_id": "XP_047288417.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 468,
"cds_start": 800,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432461.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.944A>T",
"hgvs_p": "p.Glu315Val",
"transcript": "XM_017022153.2",
"protein_id": "XP_016877642.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 447,
"cds_start": 944,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022153.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Glu296Val",
"transcript": "XM_017022154.3",
"protein_id": "XP_016877643.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 436,
"cds_start": 887,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022154.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.944A>T",
"hgvs_p": "p.Glu315Val",
"transcript": "XM_017022155.3",
"protein_id": "XP_016877644.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 418,
"cds_start": 944,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022155.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.857A>T",
"hgvs_p": "p.Glu286Val",
"transcript": "XM_047432462.1",
"protein_id": "XP_047288418.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 418,
"cds_start": 857,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432462.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.857A>T",
"hgvs_p": "p.Glu286Val",
"transcript": "XM_047432463.1",
"protein_id": "XP_047288419.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 389,
"cds_start": 857,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432463.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.944A>T",
"hgvs_p": "p.Glu315Val",
"transcript": "XM_017022157.2",
"protein_id": "XP_016877646.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 376,
"cds_start": 944,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022157.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.800A>T",
"hgvs_p": "p.Glu267Val",
"transcript": "XM_047432464.1",
"protein_id": "XP_047288420.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 370,
"cds_start": 800,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432464.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.857A>T",
"hgvs_p": "p.Glu286Val",
"transcript": "XM_006720495.4",
"protein_id": "XP_006720558.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 347,
"cds_start": 857,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720495.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.784+1865A>T",
"hgvs_p": null,
"transcript": "ENST00000868501.1",
"protein_id": "ENSP00000538560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": null,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868501.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "n.229A>T",
"hgvs_p": null,
"transcript": "ENST00000497252.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000497252.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "n.547A>T",
"hgvs_p": null,
"transcript": "ENST00000560660.1",
"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": "ENST00000560660.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "n.1260A>T",
"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": 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_148925.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "n.968A>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064441.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "n.881A>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "n.389-449A>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000481262.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "n.-194A>T",
"hgvs_p": null,
"transcript": "ENST00000497816.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000497816.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_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": "c.*83A>T",
"hgvs_p": null,
"transcript": "XM_017022158.3",
"protein_id": "XP_016877647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": null,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022158.3"
}
],
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"dbsnp": "rs1314850102",
"frequency_reference_population": 6.8408434e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84084e-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": 0.9409308433532715,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.977,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9972,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.735,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001354601.3",
"gene_symbol": "IVD",
"hgnc_id": 6186,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.848A>T",
"hgvs_p": "p.Glu283Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}