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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: 21-42850099-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=42850099&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 42850099,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018669.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"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": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Asp397Asn",
"transcript": "NM_018669.6",
"protein_id": "NP_061139.2",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 412,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398208.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018669.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"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": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Asp397Asn",
"transcript": "ENST00000398208.3",
"protein_id": "ENSP00000381266.2",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 412,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018669.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398208.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Asp397Asn",
"transcript": "ENST00000330317.6",
"protein_id": "ENSP00000328671.2",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 412,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330317.6"
},
{
"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": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "n.1104G>A",
"hgvs_p": null,
"transcript": "ENST00000476326.5",
"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": "pseudogene",
"feature": "ENST00000476326.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Asp397Asn",
"transcript": "NM_033661.5",
"protein_id": "NP_387510.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 412,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033661.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Asp396Asn",
"transcript": "NM_001260474.2",
"protein_id": "NP_001247403.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 411,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260474.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Asp396Asn",
"transcript": "ENST00000899716.1",
"protein_id": "ENSP00000569775.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 411,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899716.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Asp396Asn",
"transcript": "ENST00000899718.1",
"protein_id": "ENSP00000569777.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 411,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899718.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Asp375Asn",
"transcript": "ENST00000931736.1",
"protein_id": "ENSP00000601795.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 390,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931736.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1090G>A",
"hgvs_p": "p.Asp364Asn",
"transcript": "ENST00000899717.1",
"protein_id": "ENSP00000569776.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 379,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899717.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Asp363Asn",
"transcript": "ENST00000931737.1",
"protein_id": "ENSP00000601796.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 378,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931737.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1048G>A",
"hgvs_p": "p.Asp350Asn",
"transcript": "ENST00000931738.1",
"protein_id": "ENSP00000601797.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 365,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931738.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.1048G>A",
"hgvs_p": "p.Asp350Asn",
"transcript": "ENST00000931739.1",
"protein_id": "ENSP00000601798.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 365,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931739.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Asp328Asn",
"transcript": "ENST00000899719.1",
"protein_id": "ENSP00000569778.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 343,
"cds_start": 982,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899719.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Asp328Asn",
"transcript": "ENST00000949296.1",
"protein_id": "ENSP00000619355.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 343,
"cds_start": 982,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949296.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Asp307Asn",
"transcript": "ENST00000931735.1",
"protein_id": "ENSP00000601794.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 322,
"cds_start": 919,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931735.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Asp306Asn",
"transcript": "ENST00000931734.1",
"protein_id": "ENSP00000601793.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 321,
"cds_start": 916,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931734.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Asp306Asn",
"transcript": "ENST00000949297.1",
"protein_id": "ENSP00000619356.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 321,
"cds_start": 916,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949297.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Asp251Asn",
"transcript": "NM_001260475.2",
"protein_id": "NP_001247404.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 266,
"cds_start": 751,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260475.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Asp251Asn",
"transcript": "NM_001260476.2",
"protein_id": "NP_001247405.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 266,
"cds_start": 751,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260476.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Asp251Asn",
"transcript": "NM_001260477.2",
"protein_id": "NP_001247406.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 266,
"cds_start": 751,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001260477.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "WDR4",
"gene_hgnc_id": 12756,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Asp238Asn",
"transcript": "ENST00000931740.1",
"protein_id": "ENSP00000601799.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 253,
"cds_start": 712,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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"protein_coding": true,
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{
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],
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{
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],
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"exon_count": 11,
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{
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],
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{
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "WDR4",
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"biotype": "pseudogene",
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{
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"protein_coding": false,
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"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "WDR4",
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"hgvs_c": "n.1169G>A",
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"transcript": "NR_048535.1",
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_048535.1"
}
],
"gene_symbol": "WDR4",
"gene_hgnc_id": 12756,
"dbsnp": "rs370431009",
"frequency_reference_population": 0.000027881939,
"hom_count_reference_population": 1,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000273658,
"gnomad_genomes_af": 0.000032836,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.025394409894943237,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.0586,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.681,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_018669.6",
"gene_symbol": "WDR4",
"hgnc_id": 12756,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Asp397Asn"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}