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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: X-48601844-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48601844&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48601844,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017883.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.892G>T",
"hgvs_p": "p.Gly298Trp",
"transcript": "NM_001347217.2",
"protein_id": "NP_001334146.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 485,
"cds_start": 892,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 5457,
"mane_select": "ENST00000376729.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347217.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.892G>T",
"hgvs_p": "p.Gly298Trp",
"transcript": "ENST00000376729.10",
"protein_id": "ENSP00000365919.5",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 485,
"cds_start": 892,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 5457,
"mane_select": "NM_001347217.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376729.10"
},
{
"aa_ref": "G",
"aa_alt": "W",
"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": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.892G>T",
"hgvs_p": "p.Gly298Trp",
"transcript": "ENST00000218056.9",
"protein_id": "ENSP00000218056.5",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 485,
"cds_start": 892,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000218056.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "n.1759G>T",
"hgvs_p": null,
"transcript": "ENST00000479279.5",
"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": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479279.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"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": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.892G>T",
"hgvs_p": "p.Gly298Trp",
"transcript": "NM_017883.6",
"protein_id": "NP_060353.2",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 485,
"cds_start": 892,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 5800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017883.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.892G>T",
"hgvs_p": "p.Gly298Trp",
"transcript": "ENST00000888024.1",
"protein_id": "ENSP00000558083.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 485,
"cds_start": 892,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 5437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888024.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.892G>T",
"hgvs_p": "p.Gly298Trp",
"transcript": "ENST00000888025.1",
"protein_id": "ENSP00000558084.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 485,
"cds_start": 892,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888025.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.892G>T",
"hgvs_p": "p.Gly298Trp",
"transcript": "ENST00000888028.1",
"protein_id": "ENSP00000558087.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 485,
"cds_start": 892,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888028.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.892G>T",
"hgvs_p": "p.Gly298Trp",
"transcript": "ENST00000921736.1",
"protein_id": "ENSP00000591795.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 485,
"cds_start": 892,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 1691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921736.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.892G>T",
"hgvs_p": "p.Gly298Trp",
"transcript": "ENST00000949620.1",
"protein_id": "ENSP00000619679.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 485,
"cds_start": 892,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 1655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949620.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.892G>T",
"hgvs_p": "p.Gly298Trp",
"transcript": "ENST00000949623.1",
"protein_id": "ENSP00000619682.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 485,
"cds_start": 892,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949623.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.889G>T",
"hgvs_p": "p.Gly297Trp",
"transcript": "ENST00000888027.1",
"protein_id": "ENSP00000558086.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 484,
"cds_start": 889,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888027.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"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": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.889G>T",
"hgvs_p": "p.Gly297Trp",
"transcript": "ENST00000949617.1",
"protein_id": "ENSP00000619676.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 484,
"cds_start": 889,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 2122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949617.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Gly294Trp",
"transcript": "ENST00000888026.1",
"protein_id": "ENSP00000558085.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 481,
"cds_start": 880,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888026.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Gly294Trp",
"transcript": "ENST00000949622.1",
"protein_id": "ENSP00000619681.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 481,
"cds_start": 880,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949622.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.829G>T",
"hgvs_p": "p.Gly277Trp",
"transcript": "ENST00000949619.1",
"protein_id": "ENSP00000619678.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 464,
"cds_start": 829,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949619.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.679G>T",
"hgvs_p": "p.Gly227Trp",
"transcript": "ENST00000949618.1",
"protein_id": "ENSP00000619677.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 414,
"cds_start": 679,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949618.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.616G>T",
"hgvs_p": "p.Gly206Trp",
"transcript": "NM_001166426.3",
"protein_id": "NP_001159898.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 393,
"cds_start": 616,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 2076,
"cdna_end": null,
"cdna_length": 6479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166426.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.616G>T",
"hgvs_p": "p.Gly206Trp",
"transcript": "NM_001347219.2",
"protein_id": "NP_001334148.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 393,
"cds_start": 616,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 5423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347219.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"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": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.538G>T",
"hgvs_p": "p.Gly180Trp",
"transcript": "ENST00000949621.1",
"protein_id": "ENSP00000619680.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 367,
"cds_start": 538,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949621.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.136G>T",
"hgvs_p": "p.Gly46Trp",
"transcript": "ENST00000482760.3",
"protein_id": "ENSP00000483191.1",
"transcript_support_level": 3,
"aa_start": 46,
"aa_end": null,
"aa_length": 186,
"cds_start": 136,
"cds_end": null,
"cds_length": 562,
"cdna_start": 136,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482760.3"
},
{
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "c.877+15G>T",
"hgvs_p": null,
"transcript": "ENST00000921735.1",
"protein_id": "ENSP00000591794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": null,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921735.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"hgvs_c": "n.1363G>T",
"hgvs_p": null,
"transcript": "NR_029427.3",
"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": 5766,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_029427.3"
}
],
"gene_symbol": "WDR13",
"gene_hgnc_id": 14352,
"dbsnp": "rs201415075",
"frequency_reference_population": 0.00009729204,
"hom_count_reference_population": 47,
"allele_count_reference_population": 117,
"gnomad_exomes_af": 0.0000981805,
"gnomad_genomes_af": 0.0000887036,
"gnomad_exomes_ac": 107,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48683270812034607,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.515,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9016,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.638,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_017883.6",
"gene_symbol": "WDR13",
"hgnc_id": 14352,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.892G>T",
"hgvs_p": "p.Gly298Trp"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}