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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: 4-10075379-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=10075379&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 10075379,
"ref": "C",
"alt": "T",
"effect": "stop_retained_variant",
"transcript": "NM_017491.5",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1820G>A",
"hgvs_p": "p.Ter607Ter",
"transcript": "NM_017491.5",
"protein_id": "NP_059830.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 606,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000499869.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017491.5"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1820G>A",
"hgvs_p": "p.Ter607Ter",
"transcript": "ENST00000499869.7",
"protein_id": "ENSP00000427687.1",
"transcript_support_level": 5,
"aa_start": 607,
"aa_end": null,
"aa_length": 606,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017491.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000499869.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Glu559Lys",
"transcript": "ENST00000699796.1",
"protein_id": "ENSP00000514599.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 572,
"cds_start": 1675,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699796.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1979G>A",
"hgvs_p": "p.Ter660Ter",
"transcript": "ENST00000699794.1",
"protein_id": "ENSP00000514596.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 659,
"cds_start": 1979,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699794.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1817G>A",
"hgvs_p": "p.Ter606Ter",
"transcript": "ENST00000867002.1",
"protein_id": "ENSP00000537061.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 605,
"cds_start": 1817,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867002.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1817G>A",
"hgvs_p": "p.Ter606Ter",
"transcript": "ENST00000918694.1",
"protein_id": "ENSP00000588753.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 605,
"cds_start": 1817,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918694.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1817G>A",
"hgvs_p": "p.Ter606Ter",
"transcript": "ENST00000950909.1",
"protein_id": "ENSP00000620968.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 605,
"cds_start": 1817,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950909.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1805G>A",
"hgvs_p": "p.Ter602Ter",
"transcript": "ENST00000950911.1",
"protein_id": "ENSP00000620970.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 601,
"cds_start": 1805,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950911.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Ter592Ter",
"transcript": "ENST00000867001.1",
"protein_id": "ENSP00000537060.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 591,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867001.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1739G>A",
"hgvs_p": "p.Ter580Ter",
"transcript": "ENST00000699797.1",
"protein_id": "ENSP00000514600.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 579,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699797.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Ter549Ter",
"transcript": "ENST00000918696.1",
"protein_id": "ENSP00000588755.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 548,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918696.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Ter529Ter",
"transcript": "ENST00000918695.1",
"protein_id": "ENSP00000588754.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 528,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918695.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Ter494Ter",
"transcript": "ENST00000867003.1",
"protein_id": "ENSP00000537062.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 493,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867003.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1400G>A",
"hgvs_p": "p.Ter467Ter",
"transcript": "NM_005112.5",
"protein_id": "NP_005103.2",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 466,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005112.5"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1400G>A",
"hgvs_p": "p.Ter467Ter",
"transcript": "ENST00000502702.6",
"protein_id": "ENSP00000426725.1",
"transcript_support_level": 5,
"aa_start": 467,
"aa_end": null,
"aa_length": 466,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502702.6"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Ter466Ter",
"transcript": "ENST00000950910.1",
"protein_id": "ENSP00000620969.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 465,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950910.1"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1001G>A",
"hgvs_p": "p.Ter334Ter",
"transcript": "ENST00000264785.12",
"protein_id": "ENSP00000514597.1",
"transcript_support_level": 4,
"aa_start": 334,
"aa_end": null,
"aa_length": 333,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264785.12"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "c.1979G>A",
"hgvs_p": "p.Ter660Ter",
"transcript": "XM_017008880.3",
"protein_id": "XP_016864369.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 659,
"cds_start": 1979,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008880.3"
},
{
"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": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.1375G>A",
"hgvs_p": null,
"transcript": "ENST00000502962.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000502962.5"
},
{
"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": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.1547G>A",
"hgvs_p": null,
"transcript": "ENST00000508949.6",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000508949.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.4252G>A",
"hgvs_p": null,
"transcript": "ENST00000515743.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000515743.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR1",
"gene_hgnc_id": 12754,
"hgvs_c": "n.1832G>A",
"hgvs_p": null,
"transcript": "ENST00000699786.1",
"protein_id": "ENSP00000514592.1",
"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": "ENST00000699786.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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],
"gene_symbol": "WDR1",
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.26,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_017491.5",
"gene_symbol": "WDR1",
"hgnc_id": 12754,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.1820G>A",
"hgvs_p": "p.Ter607Ter"
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}