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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: 4-10075404-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=10075404&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 10075404,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017491.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1795G>A",
"hgvs_p": "p.Val599Ile",
"transcript": "NM_017491.5",
"protein_id": "NP_059830.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 606,
"cds_start": 1795,
"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": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1795G>A",
"hgvs_p": "p.Val599Ile",
"transcript": "ENST00000499869.7",
"protein_id": "ENSP00000427687.1",
"transcript_support_level": 5,
"aa_start": 599,
"aa_end": null,
"aa_length": 606,
"cds_start": 1795,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1954G>A",
"hgvs_p": "p.Val652Ile",
"transcript": "ENST00000699794.1",
"protein_id": "ENSP00000514596.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 659,
"cds_start": 1954,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1792G>A",
"hgvs_p": "p.Val598Ile",
"transcript": "ENST00000867002.1",
"protein_id": "ENSP00000537061.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 605,
"cds_start": 1792,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1792G>A",
"hgvs_p": "p.Val598Ile",
"transcript": "ENST00000918694.1",
"protein_id": "ENSP00000588753.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 605,
"cds_start": 1792,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1792G>A",
"hgvs_p": "p.Val598Ile",
"transcript": "ENST00000950909.1",
"protein_id": "ENSP00000620968.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 605,
"cds_start": 1792,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1780G>A",
"hgvs_p": "p.Val594Ile",
"transcript": "ENST00000950911.1",
"protein_id": "ENSP00000620970.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 601,
"cds_start": 1780,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1750G>A",
"hgvs_p": "p.Val584Ile",
"transcript": "ENST00000867001.1",
"protein_id": "ENSP00000537060.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 591,
"cds_start": 1750,
"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": "V",
"aa_alt": "I",
"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.1714G>A",
"hgvs_p": "p.Val572Ile",
"transcript": "ENST00000699797.1",
"protein_id": "ENSP00000514600.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 579,
"cds_start": 1714,
"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": "V",
"aa_alt": "I",
"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.1621G>A",
"hgvs_p": "p.Val541Ile",
"transcript": "ENST00000918696.1",
"protein_id": "ENSP00000588755.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 548,
"cds_start": 1621,
"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": "V",
"aa_alt": "I",
"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.1561G>A",
"hgvs_p": "p.Val521Ile",
"transcript": "ENST00000918695.1",
"protein_id": "ENSP00000588754.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 528,
"cds_start": 1561,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1456G>A",
"hgvs_p": "p.Val486Ile",
"transcript": "ENST00000867003.1",
"protein_id": "ENSP00000537062.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 493,
"cds_start": 1456,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1375G>A",
"hgvs_p": "p.Val459Ile",
"transcript": "NM_005112.5",
"protein_id": "NP_005103.2",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 466,
"cds_start": 1375,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1375G>A",
"hgvs_p": "p.Val459Ile",
"transcript": "ENST00000502702.6",
"protein_id": "ENSP00000426725.1",
"transcript_support_level": 5,
"aa_start": 459,
"aa_end": null,
"aa_length": 466,
"cds_start": 1375,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1372G>A",
"hgvs_p": "p.Val458Ile",
"transcript": "ENST00000950910.1",
"protein_id": "ENSP00000620969.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 465,
"cds_start": 1372,
"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": "V",
"aa_alt": "I",
"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.976G>A",
"hgvs_p": "p.Val326Ile",
"transcript": "ENST00000264785.12",
"protein_id": "ENSP00000514597.1",
"transcript_support_level": 4,
"aa_start": 326,
"aa_end": null,
"aa_length": 333,
"cds_start": 976,
"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": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.1954G>A",
"hgvs_p": "p.Val652Ile",
"transcript": "XM_017008880.3",
"protein_id": "XP_016864369.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 659,
"cds_start": 1954,
"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": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1650G>A",
"hgvs_p": "p.Leu550Leu",
"transcript": "ENST00000699796.1",
"protein_id": "ENSP00000514599.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 572,
"cds_start": 1650,
"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": 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.1350G>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.1522G>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.4227G>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.1807G>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"
},
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}
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}