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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-154013069-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154013069&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154013069,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001569.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1904C>G",
"hgvs_p": "p.Pro635Arg",
"transcript": "NM_001569.4",
"protein_id": "NP_001560.2",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 712,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369980.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001569.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1904C>G",
"hgvs_p": "p.Pro635Arg",
"transcript": "ENST00000369980.8",
"protein_id": "ENSP00000358997.3",
"transcript_support_level": 1,
"aa_start": 635,
"aa_end": null,
"aa_length": 712,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001569.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369980.8"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1814C>G",
"hgvs_p": "p.Pro605Arg",
"transcript": "ENST00000393687.6",
"protein_id": "ENSP00000377291.2",
"transcript_support_level": 1,
"aa_start": 605,
"aa_end": null,
"aa_length": 682,
"cds_start": 1814,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393687.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1667C>G",
"hgvs_p": "p.Pro556Arg",
"transcript": "ENST00000369974.6",
"protein_id": "ENSP00000358991.2",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 633,
"cds_start": 1667,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369974.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1904C>G",
"hgvs_p": "p.Pro635Arg",
"transcript": "ENST00000927323.1",
"protein_id": "ENSP00000597382.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 712,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927323.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1901C>G",
"hgvs_p": "p.Pro634Arg",
"transcript": "ENST00000927320.1",
"protein_id": "ENSP00000597379.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 711,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927320.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1895C>G",
"hgvs_p": "p.Pro632Arg",
"transcript": "ENST00000927318.1",
"protein_id": "ENSP00000597377.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 709,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927318.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1892C>G",
"hgvs_p": "p.Pro631Arg",
"transcript": "NM_001410701.1",
"protein_id": "NP_001397630.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 708,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410701.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1892C>G",
"hgvs_p": "p.Pro631Arg",
"transcript": "ENST00000429936.6",
"protein_id": "ENSP00000392662.2",
"transcript_support_level": 5,
"aa_start": 631,
"aa_end": null,
"aa_length": 708,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429936.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1892C>G",
"hgvs_p": "p.Pro631Arg",
"transcript": "ENST00000927319.1",
"protein_id": "ENSP00000597378.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 708,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927319.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1889C>G",
"hgvs_p": "p.Pro630Arg",
"transcript": "ENST00000944209.1",
"protein_id": "ENSP00000614268.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 707,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944209.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1874C>G",
"hgvs_p": "p.Pro625Arg",
"transcript": "ENST00000927322.1",
"protein_id": "ENSP00000597381.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 702,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927322.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1871C>G",
"hgvs_p": "p.Pro624Arg",
"transcript": "ENST00000927321.1",
"protein_id": "ENSP00000597380.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 701,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927321.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1814C>G",
"hgvs_p": "p.Pro605Arg",
"transcript": "NM_001025242.2",
"protein_id": "NP_001020413.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 682,
"cds_start": 1814,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025242.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1805C>G",
"hgvs_p": "p.Pro602Arg",
"transcript": "ENST00000927325.1",
"protein_id": "ENSP00000597384.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 679,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927325.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1772C>G",
"hgvs_p": "p.Pro591Arg",
"transcript": "ENST00000944210.1",
"protein_id": "ENSP00000614269.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 668,
"cds_start": 1772,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944210.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1715C>G",
"hgvs_p": "p.Pro572Arg",
"transcript": "ENST00000944208.1",
"protein_id": "ENSP00000614267.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 649,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944208.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1685C>G",
"hgvs_p": "p.Pro562Arg",
"transcript": "ENST00000944212.1",
"protein_id": "ENSP00000614271.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 639,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944212.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1667C>G",
"hgvs_p": "p.Pro556Arg",
"transcript": "NM_001025243.2",
"protein_id": "NP_001020414.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 633,
"cds_start": 1667,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025243.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1646C>G",
"hgvs_p": "p.Pro549Arg",
"transcript": "ENST00000927324.1",
"protein_id": "ENSP00000597383.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 626,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927324.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1625C>G",
"hgvs_p": "p.Pro542Arg",
"transcript": "ENST00000944206.1",
"protein_id": "ENSP00000614265.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 619,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944206.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1601C>G",
"hgvs_p": "p.Pro534Arg",
"transcript": "ENST00000944207.1",
"protein_id": "ENSP00000614266.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 611,
"cds_start": 1601,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}