← 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: 19-15423132-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=15423132&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 15423132,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001371589.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.5614C>G",
"hgvs_p": "p.Pro1872Ala",
"transcript": "NM_001371589.1",
"protein_id": "NP_001358518.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 1889,
"cds_start": 5614,
"cds_end": null,
"cds_length": 5670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000673675.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371589.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.5614C>G",
"hgvs_p": "p.Pro1872Ala",
"transcript": "ENST00000673675.1",
"protein_id": "ENSP00000500993.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 1889,
"cds_start": 5614,
"cds_end": null,
"cds_length": 5670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001371589.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673675.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2842C>G",
"hgvs_p": "p.Pro948Ala",
"transcript": "ENST00000545156.5",
"protein_id": "ENSP00000445824.1",
"transcript_support_level": 1,
"aa_start": 948,
"aa_end": null,
"aa_length": 965,
"cds_start": 2842,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545156.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2443C>G",
"hgvs_p": "p.Pro815Ala",
"transcript": "ENST00000389282.8",
"protein_id": "ENSP00000373933.5",
"transcript_support_level": 1,
"aa_start": 815,
"aa_end": null,
"aa_length": 832,
"cds_start": 2443,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389282.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.5443C>G",
"hgvs_p": "p.Pro1815Ala",
"transcript": "ENST00000864800.1",
"protein_id": "ENSP00000534861.1",
"transcript_support_level": null,
"aa_start": 1815,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5443,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864800.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.5443C>G",
"hgvs_p": "p.Pro1815Ala",
"transcript": "ENST00000926419.1",
"protein_id": "ENSP00000596478.1",
"transcript_support_level": null,
"aa_start": 1815,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5443,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926419.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.5215C>G",
"hgvs_p": "p.Pro1739Ala",
"transcript": "NM_001439242.1",
"protein_id": "NP_001426171.1",
"transcript_support_level": null,
"aa_start": 1739,
"aa_end": null,
"aa_length": 1756,
"cds_start": 5215,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439242.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.5044C>G",
"hgvs_p": "p.Pro1682Ala",
"transcript": "NM_001411129.1",
"protein_id": "NP_001398058.1",
"transcript_support_level": null,
"aa_start": 1682,
"aa_end": null,
"aa_length": 1699,
"cds_start": 5044,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411129.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.5044C>G",
"hgvs_p": "p.Pro1682Ala",
"transcript": "NM_001439243.1",
"protein_id": "NP_001426172.1",
"transcript_support_level": null,
"aa_start": 1682,
"aa_end": null,
"aa_length": 1699,
"cds_start": 5044,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439243.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.5044C>G",
"hgvs_p": "p.Pro1682Ala",
"transcript": "ENST00000643092.1",
"protein_id": "ENSP00000495441.1",
"transcript_support_level": null,
"aa_start": 1682,
"aa_end": null,
"aa_length": 1699,
"cds_start": 5044,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643092.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.4540C>G",
"hgvs_p": "p.Pro1514Ala",
"transcript": "ENST00000926418.1",
"protein_id": "ENSP00000596477.1",
"transcript_support_level": null,
"aa_start": 1514,
"aa_end": null,
"aa_length": 1531,
"cds_start": 4540,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926418.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.3403C>G",
"hgvs_p": "p.Pro1135Ala",
"transcript": "NM_001439244.1",
"protein_id": "NP_001426173.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3403,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439244.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.3292C>G",
"hgvs_p": "p.Pro1098Ala",
"transcript": "NM_001439245.1",
"protein_id": "NP_001426174.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1115,
"cds_start": 3292,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439245.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.3232C>G",
"hgvs_p": "p.Pro1078Ala",
"transcript": "ENST00000864804.1",
"protein_id": "ENSP00000534863.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1095,
"cds_start": 3232,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864804.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.3232C>G",
"hgvs_p": "p.Pro1078Ala",
"transcript": "ENST00000926417.1",
"protein_id": "ENSP00000596476.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1095,
"cds_start": 3232,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926417.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.3145C>G",
"hgvs_p": "p.Pro1049Ala",
"transcript": "NM_001371603.5",
"protein_id": "NP_001358532.2",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3145,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371603.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.3145C>G",
"hgvs_p": "p.Pro1049Ala",
"transcript": "ENST00000674001.1",
"protein_id": "ENSP00000501300.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1066,
"cds_start": 3145,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674001.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.3121C>G",
"hgvs_p": "p.Pro1041Ala",
"transcript": "NM_001439246.1",
"protein_id": "NP_001426175.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1058,
"cds_start": 3121,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439246.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2851C>G",
"hgvs_p": "p.Pro951Ala",
"transcript": "NM_001439247.1",
"protein_id": "NP_001426176.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 968,
"cds_start": 2851,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439247.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2851C>G",
"hgvs_p": "p.Pro951Ala",
"transcript": "NM_001439248.1",
"protein_id": "NP_001426177.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 968,
"cds_start": 2851,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439248.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2851C>G",
"hgvs_p": "p.Pro951Ala",
"transcript": "ENST00000599910.6",
"protein_id": "ENSP00000469022.1",
"transcript_support_level": 5,
"aa_start": 951,
"aa_end": null,
"aa_length": 968,
"cds_start": 2851,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599910.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2833C>G",
"hgvs_p": "p.Pro945Ala",
"transcript": "NM_001439249.1",
"protein_id": "NP_001426178.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 962,
"cds_start": 2833,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439249.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2833C>G",
"hgvs_p": "p.Pro945Ala",
"transcript": "NM_001439250.1",
"protein_id": "NP_001426179.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 962,
"cds_start": 2833,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439250.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2833C>G",
"hgvs_p": "p.Pro945Ala",
"transcript": "ENST00000864799.1",
"protein_id": "ENSP00000534858.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 962,
"cds_start": 2833,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864799.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2833C>G",
"hgvs_p": "p.Pro945Ala",
"transcript": "ENST00000971324.1",
"protein_id": "ENSP00000641383.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 962,
"cds_start": 2833,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971324.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2746C>G",
"hgvs_p": "p.Pro916Ala",
"transcript": "NM_001330395.4",
"protein_id": "NP_001317324.2",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 933,
"cds_start": 2746,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330395.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2746C>G",
"hgvs_p": "p.Pro916Ala",
"transcript": "ENST00000674089.4",
"protein_id": "ENSP00000501256.3",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 933,
"cds_start": 2746,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674089.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2728C>G",
"hgvs_p": "p.Pro910Ala",
"transcript": "ENST00000926416.1",
"protein_id": "ENSP00000596475.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 927,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926416.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2722C>G",
"hgvs_p": "p.Pro908Ala",
"transcript": "NM_001439251.1",
"protein_id": "NP_001426180.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 925,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439251.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2329C>G",
"hgvs_p": "p.Pro777Ala",
"transcript": "NM_021241.3",
"protein_id": "NP_067064.2",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 794,
"cds_start": 2329,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021241.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2329C>G",
"hgvs_p": "p.Pro777Ala",
"transcript": "ENST00000263381.12",
"protein_id": "ENSP00000263381.5",
"transcript_support_level": 2,
"aa_start": 777,
"aa_end": null,
"aa_length": 794,
"cds_start": 2329,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263381.12"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2329C>G",
"hgvs_p": "p.Pro777Ala",
"transcript": "ENST00000926415.1",
"protein_id": "ENSP00000596474.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 794,
"cds_start": 2329,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926415.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.2329C>G",
"hgvs_p": "p.Pro777Ala",
"transcript": "ENST00000926420.1",
"protein_id": "ENSP00000596479.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 794,
"cds_start": 2329,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926420.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.5614C>G",
"hgvs_p": "p.Pro1872Ala",
"transcript": "XM_047439175.1",
"protein_id": "XP_047295131.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 1889,
"cds_start": 5614,
"cds_end": null,
"cds_length": 5670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439175.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.5443C>G",
"hgvs_p": "p.Pro1815Ala",
"transcript": "XM_005260005.5",
"protein_id": "XP_005260062.1",
"transcript_support_level": null,
"aa_start": 1815,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5443,
"cds_end": null,
"cds_length": 5499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260005.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "c.3232C>G",
"hgvs_p": "p.Pro1078Ala",
"transcript": "XM_047439178.1",
"protein_id": "XP_047295134.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1095,
"cds_start": 3232,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439178.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "n.*2786C>G",
"hgvs_p": null,
"transcript": "ENST00000648664.1",
"protein_id": "ENSP00000497067.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000648664.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"hgvs_c": "n.*2786C>G",
"hgvs_p": null,
"transcript": "ENST00000648664.1",
"protein_id": "ENSP00000497067.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000648664.1"
}
],
"gene_symbol": "WIZ",
"gene_hgnc_id": 30917,
"dbsnp": "rs1290831770",
"frequency_reference_population": 0.0000031004445,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.0000020541,
"gnomad_genomes_af": 0.0000131423,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15216600894927979,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.0532,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.838,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001371589.1",
"gene_symbol": "WIZ",
"hgnc_id": 30917,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.5614C>G",
"hgvs_p": "p.Pro1872Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}