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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: 19-36105020-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36105020&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36105020,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000401500.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4564G>A",
"hgvs_p": "p.Gly1522Arg",
"transcript": "NM_001083961.2",
"protein_id": "NP_001077430.1",
"transcript_support_level": null,
"aa_start": 1522,
"aa_end": null,
"aa_length": 1523,
"cds_start": 4564,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 4639,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": "ENST00000401500.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4564G>A",
"hgvs_p": "p.Gly1522Arg",
"transcript": "ENST00000401500.7",
"protein_id": "ENSP00000384792.1",
"transcript_support_level": 1,
"aa_start": 1522,
"aa_end": null,
"aa_length": 1523,
"cds_start": 4564,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 4639,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": "NM_001083961.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*4424G>A",
"hgvs_p": null,
"transcript": "ENST00000587391.6",
"protein_id": "ENSP00000465525.1",
"transcript_support_level": 1,
"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": 5973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "n.*4424G>A",
"hgvs_p": null,
"transcript": "ENST00000587391.6",
"protein_id": "ENSP00000465525.1",
"transcript_support_level": 1,
"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": 5973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4558G>A",
"hgvs_p": "p.Gly1520Arg",
"transcript": "ENST00000679714.1",
"protein_id": "ENSP00000506627.1",
"transcript_support_level": null,
"aa_start": 1520,
"aa_end": null,
"aa_length": 1521,
"cds_start": 4558,
"cds_end": null,
"cds_length": 4566,
"cdna_start": 4633,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4549G>A",
"hgvs_p": "p.Gly1517Arg",
"transcript": "NM_001411145.1",
"protein_id": "NP_001398074.1",
"transcript_support_level": null,
"aa_start": 1517,
"aa_end": null,
"aa_length": 1518,
"cds_start": 4549,
"cds_end": null,
"cds_length": 4557,
"cdna_start": 4624,
"cdna_end": null,
"cdna_length": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4549G>A",
"hgvs_p": "p.Gly1517Arg",
"transcript": "NM_173636.5",
"protein_id": "NP_775907.4",
"transcript_support_level": null,
"aa_start": 1517,
"aa_end": null,
"aa_length": 1518,
"cds_start": 4549,
"cds_end": null,
"cds_length": 4557,
"cdna_start": 4624,
"cdna_end": null,
"cdna_length": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4549G>A",
"hgvs_p": "p.Gly1517Arg",
"transcript": "ENST00000270301.12",
"protein_id": "ENSP00000270301.6",
"transcript_support_level": 5,
"aa_start": 1517,
"aa_end": null,
"aa_length": 1518,
"cds_start": 4549,
"cds_end": null,
"cds_length": 4557,
"cdna_start": 4549,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4549G>A",
"hgvs_p": "p.Gly1517Arg",
"transcript": "ENST00000679682.1",
"protein_id": "ENSP00000506226.1",
"transcript_support_level": null,
"aa_start": 1517,
"aa_end": null,
"aa_length": 1518,
"cds_start": 4549,
"cds_end": null,
"cds_length": 4557,
"cdna_start": 4624,
"cdna_end": null,
"cdna_length": 4702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4315G>A",
"hgvs_p": "p.Gly1439Arg",
"transcript": "NM_001411146.1",
"protein_id": "NP_001398075.1",
"transcript_support_level": null,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1440,
"cds_start": 4315,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 4390,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4315G>A",
"hgvs_p": "p.Gly1439Arg",
"transcript": "ENST00000680564.1",
"protein_id": "ENSP00000505582.1",
"transcript_support_level": null,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1440,
"cds_start": 4315,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 4390,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4213G>A",
"hgvs_p": "p.Gly1405Arg",
"transcript": "NM_001411147.1",
"protein_id": "NP_001398076.1",
"transcript_support_level": null,
"aa_start": 1405,
"aa_end": null,
"aa_length": 1406,
"cds_start": 4213,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 4288,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4213G>A",
"hgvs_p": "p.Gly1405Arg",
"transcript": "ENST00000679757.1",
"protein_id": "ENSP00000505158.1",
"transcript_support_level": null,
"aa_start": 1405,
"aa_end": null,
"aa_length": 1406,
"cds_start": 4213,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 4255,
"cdna_end": null,
"cdna_length": 4339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Gly389Arg",
"transcript": "ENST00000680211.1",
"protein_id": "ENSP00000506102.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 390,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4564G>A",
"hgvs_p": "p.Gly1522Arg",
"transcript": "XM_017026665.2",
"protein_id": "XP_016882154.1",
"transcript_support_level": null,
"aa_start": 1522,
"aa_end": null,
"aa_length": 1523,
"cds_start": 4564,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 4639,
"cdna_end": null,
"cdna_length": 4709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4534G>A",
"hgvs_p": "p.Gly1512Arg",
"transcript": "XM_047438657.1",
"protein_id": "XP_047294613.1",
"transcript_support_level": null,
"aa_start": 1512,
"aa_end": null,
"aa_length": 1513,
"cds_start": 4534,
"cds_end": null,
"cds_length": 4542,
"cdna_start": 4609,
"cdna_end": null,
"cdna_length": 4697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4453G>A",
"hgvs_p": "p.Gly1485Arg",
"transcript": "XM_005258809.3",
"protein_id": "XP_005258866.1",
"transcript_support_level": null,
"aa_start": 1485,
"aa_end": null,
"aa_length": 1486,
"cds_start": 4453,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 4528,
"cdna_end": null,
"cdna_length": 4616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4438G>A",
"hgvs_p": "p.Gly1480Arg",
"transcript": "XM_047438658.1",
"protein_id": "XP_047294614.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1481,
"cds_start": 4438,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 4513,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4438G>A",
"hgvs_p": "p.Gly1480Arg",
"transcript": "XM_047438659.1",
"protein_id": "XP_047294615.1",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1481,
"cds_start": 4438,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 4513,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4423G>A",
"hgvs_p": "p.Gly1475Arg",
"transcript": "XM_047438660.1",
"protein_id": "XP_047294616.1",
"transcript_support_level": null,
"aa_start": 1475,
"aa_end": null,
"aa_length": 1476,
"cds_start": 4423,
"cds_end": null,
"cds_length": 4431,
"cdna_start": 4498,
"cdna_end": null,
"cdna_length": 4586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4300G>A",
"hgvs_p": "p.Gly1434Arg",
"transcript": "XM_047438661.1",
"protein_id": "XP_047294617.1",
"transcript_support_level": null,
"aa_start": 1434,
"aa_end": null,
"aa_length": 1435,
"cds_start": 4300,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 4375,
"cdna_end": null,
"cdna_length": 4463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"hgvs_c": "c.4198G>A",
"hgvs_p": "p.Gly1400Arg",
"transcript": "XM_047438662.1",
"protein_id": "XP_047294618.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 1401,
"cds_start": 4198,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 4273,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
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{
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},
{
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"consequences": [
"downstream_gene_variant"
],
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{
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"downstream_gene_variant"
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},
{
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"downstream_gene_variant"
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"gene_symbol": "WDR62",
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"hgvs_c": "n.*3867G>A",
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"transcript": "ENST00000680806.1",
"protein_id": "ENSP00000506418.1",
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}
],
"gene_symbol": "WDR62",
"gene_hgnc_id": 24502,
"dbsnp": "rs142600079",
"frequency_reference_population": 0.00008761445,
"hom_count_reference_population": 0,
"allele_count_reference_population": 140,
"gnomad_exomes_af": 0.0000442735,
"gnomad_genomes_af": 0.000498851,
"gnomad_exomes_ac": 64,
"gnomad_genomes_ac": 76,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0066262781620025635,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.257,
"revel_prediction": "Benign",
"alphamissense_score": 0.2448,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.261,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000401500.7",
"gene_symbol": "WDR62",
"hgnc_id": 24502,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4564G>A",
"hgvs_p": "p.Gly1522Arg"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2",
"phenotype_combined": "not specified|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}