← 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: 6-169670627-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=169670627&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 169670627,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000448612.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "NM_182552.5",
"protein_id": "NP_872358.4",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 895,
"cds_start": 398,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 3554,
"mane_select": "ENST00000448612.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "ENST00000448612.6",
"protein_id": "ENSP00000416289.1",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 895,
"cds_start": 398,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 3554,
"mane_select": "NM_182552.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.331+1628T>A",
"hgvs_p": null,
"transcript": "ENST00000423258.5",
"protein_id": "ENSP00000397869.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": -4,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285733",
"gene_hgnc_id": null,
"hgvs_c": "c.331+1628T>A",
"hgvs_p": null,
"transcript": "ENST00000648086.1",
"protein_id": "ENSP00000497979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 232,
"cds_start": -4,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "ENST00000850900.1",
"protein_id": "ENSP00000520975.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 827,
"cds_start": 398,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "NM_001350624.2",
"protein_id": "NP_001337553.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 437,
"cds_start": 398,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "NM_001350625.2",
"protein_id": "NP_001337554.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 437,
"cds_start": 398,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "ENST00000647873.1",
"protein_id": "ENSP00000497692.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 437,
"cds_start": 398,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "ENST00000650296.1",
"protein_id": "ENSP00000497675.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 177,
"cds_start": 398,
"cds_end": null,
"cds_length": 534,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_011535682.4",
"protein_id": "XP_011533984.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 890,
"cds_start": 398,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 4800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_011535684.4",
"protein_id": "XP_011533986.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 873,
"cds_start": 398,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 4013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_047418584.1",
"protein_id": "XP_047274540.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 869,
"cds_start": 398,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 3429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_011535685.4",
"protein_id": "XP_011533987.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 867,
"cds_start": 398,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 3613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_017010660.3",
"protein_id": "XP_016866149.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 857,
"cds_start": 398,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_011535687.4",
"protein_id": "XP_011533989.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 855,
"cds_start": 398,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 7067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_011535688.4",
"protein_id": "XP_011533990.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 855,
"cds_start": 398,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 7063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_011535691.4",
"protein_id": "XP_011533993.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 853,
"cds_start": 398,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 3682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_011535692.4",
"protein_id": "XP_011533994.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 847,
"cds_start": 398,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_011535693.4",
"protein_id": "XP_011533995.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 790,
"cds_start": 398,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_047418585.1",
"protein_id": "XP_047274541.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 759,
"cds_start": 398,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_047418586.1",
"protein_id": "XP_047274542.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 742,
"cds_start": 398,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 2994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_047418587.1",
"protein_id": "XP_047274543.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 624,
"cds_start": 398,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 2629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_017010672.3",
"protein_id": "XP_016866161.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 597,
"cds_start": 398,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_047418588.1",
"protein_id": "XP_047274544.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 505,
"cds_start": 398,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_047418589.1",
"protein_id": "XP_047274545.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 475,
"cds_start": 398,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_047418590.1",
"protein_id": "XP_047274546.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 475,
"cds_start": 398,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln",
"transcript": "XM_011535697.4",
"protein_id": "XP_011533999.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 473,
"cds_start": 398,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.67T>A",
"hgvs_p": null,
"transcript": "ENST00000496752.1",
"protein_id": null,
"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": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.2069T>A",
"hgvs_p": null,
"transcript": "ENST00000546953.1",
"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": 3175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.398T>A",
"hgvs_p": null,
"transcript": "ENST00000647790.1",
"protein_id": "ENSP00000498206.1",
"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": 4102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.398T>A",
"hgvs_p": null,
"transcript": "ENST00000648017.1",
"protein_id": "ENSP00000497622.1",
"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": 1403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.398T>A",
"hgvs_p": null,
"transcript": "ENST00000649303.1",
"protein_id": "ENSP00000497180.1",
"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": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.1758T>A",
"hgvs_p": null,
"transcript": "ENST00000649806.1",
"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": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.1066T>A",
"hgvs_p": null,
"transcript": "NR_146876.2",
"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": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.1066T>A",
"hgvs_p": null,
"transcript": "XR_007059230.1",
"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": 4633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.1066T>A",
"hgvs_p": null,
"transcript": "XR_007059231.1",
"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": 6837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.1066T>A",
"hgvs_p": null,
"transcript": "XR_007059233.1",
"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": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.331+1628T>A",
"hgvs_p": null,
"transcript": "NM_001202550.2",
"protein_id": "NP_001189479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": -4,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.331+1628T>A",
"hgvs_p": null,
"transcript": "NM_001350623.2",
"protein_id": "NP_001337552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": -4,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.410+252T>A",
"hgvs_p": null,
"transcript": "ENST00000647889.1",
"protein_id": "ENSP00000497364.1",
"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": 4654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.331+1628T>A",
"hgvs_p": null,
"transcript": "ENST00000648472.1",
"protein_id": "ENSP00000496961.1",
"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": 3260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285733",
"gene_hgnc_id": null,
"hgvs_c": "n.108+30924T>A",
"hgvs_p": null,
"transcript": "ENST00000650382.1",
"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": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.999+1628T>A",
"hgvs_p": null,
"transcript": "NR_146875.2",
"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": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.331+1628T>A",
"hgvs_p": null,
"transcript": "XM_017010669.2",
"protein_id": "XP_016866158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": -4,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"dbsnp": "rs4236176",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15933576226234436,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.06,
"revel_prediction": "Benign",
"alphamissense_score": 0.0734,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.445,
"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": "ENST00000448612.6",
"gene_symbol": "WDR27",
"hgnc_id": 21248,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.398T>A",
"hgvs_p": "p.Leu133Gln"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000648086.1",
"gene_symbol": "ENSG00000285733",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.331+1628T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}