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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-154011911-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154011911&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154011911,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001569.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.2087G>A",
"hgvs_p": "p.Gly696Asp",
"transcript": "NM_001569.4",
"protein_id": "NP_001560.2",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 712,
"cds_start": 2087,
"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": "G",
"aa_alt": "D",
"canonical": true,
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.2087G>A",
"hgvs_p": "p.Gly696Asp",
"transcript": "ENST00000369980.8",
"protein_id": "ENSP00000358997.3",
"transcript_support_level": 1,
"aa_start": 696,
"aa_end": null,
"aa_length": 712,
"cds_start": 2087,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Gly666Asp",
"transcript": "ENST00000393687.6",
"protein_id": "ENSP00000377291.2",
"transcript_support_level": 1,
"aa_start": 666,
"aa_end": null,
"aa_length": 682,
"cds_start": 1997,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1850G>A",
"hgvs_p": "p.Gly617Asp",
"transcript": "ENST00000369974.6",
"protein_id": "ENSP00000358991.2",
"transcript_support_level": 1,
"aa_start": 617,
"aa_end": null,
"aa_length": 633,
"cds_start": 1850,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.2087G>A",
"hgvs_p": "p.Gly696Asp",
"transcript": "ENST00000927323.1",
"protein_id": "ENSP00000597382.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 712,
"cds_start": 2087,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.2084G>A",
"hgvs_p": "p.Gly695Asp",
"transcript": "ENST00000927320.1",
"protein_id": "ENSP00000597379.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 711,
"cds_start": 2084,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.2078G>A",
"hgvs_p": "p.Gly693Asp",
"transcript": "ENST00000927318.1",
"protein_id": "ENSP00000597377.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 709,
"cds_start": 2078,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.2075G>A",
"hgvs_p": "p.Gly692Asp",
"transcript": "NM_001410701.1",
"protein_id": "NP_001397630.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 708,
"cds_start": 2075,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.2075G>A",
"hgvs_p": "p.Gly692Asp",
"transcript": "ENST00000429936.6",
"protein_id": "ENSP00000392662.2",
"transcript_support_level": 5,
"aa_start": 692,
"aa_end": null,
"aa_length": 708,
"cds_start": 2075,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.2075G>A",
"hgvs_p": "p.Gly692Asp",
"transcript": "ENST00000927319.1",
"protein_id": "ENSP00000597378.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 708,
"cds_start": 2075,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.2072G>A",
"hgvs_p": "p.Gly691Asp",
"transcript": "ENST00000944209.1",
"protein_id": "ENSP00000614268.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 707,
"cds_start": 2072,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.2057G>A",
"hgvs_p": "p.Gly686Asp",
"transcript": "ENST00000927322.1",
"protein_id": "ENSP00000597381.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 702,
"cds_start": 2057,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.2054G>A",
"hgvs_p": "p.Gly685Asp",
"transcript": "ENST00000927321.1",
"protein_id": "ENSP00000597380.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 701,
"cds_start": 2054,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1997G>A",
"hgvs_p": "p.Gly666Asp",
"transcript": "NM_001025242.2",
"protein_id": "NP_001020413.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 682,
"cds_start": 1997,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1988G>A",
"hgvs_p": "p.Gly663Asp",
"transcript": "ENST00000927325.1",
"protein_id": "ENSP00000597384.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 679,
"cds_start": 1988,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1955G>A",
"hgvs_p": "p.Gly652Asp",
"transcript": "ENST00000944210.1",
"protein_id": "ENSP00000614269.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 668,
"cds_start": 1955,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1898G>A",
"hgvs_p": "p.Gly633Asp",
"transcript": "ENST00000944208.1",
"protein_id": "ENSP00000614267.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 649,
"cds_start": 1898,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1868G>A",
"hgvs_p": "p.Gly623Asp",
"transcript": "ENST00000944212.1",
"protein_id": "ENSP00000614271.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 639,
"cds_start": 1868,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1850G>A",
"hgvs_p": "p.Gly617Asp",
"transcript": "NM_001025243.2",
"protein_id": "NP_001020414.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 633,
"cds_start": 1850,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1829G>A",
"hgvs_p": "p.Gly610Asp",
"transcript": "ENST00000927324.1",
"protein_id": "ENSP00000597383.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 626,
"cds_start": 1829,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1808G>A",
"hgvs_p": "p.Gly603Asp",
"transcript": "ENST00000944206.1",
"protein_id": "ENSP00000614265.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 619,
"cds_start": 1808,
"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": "G",
"aa_alt": "D",
"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": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Gly595Asp",
"transcript": "ENST00000944207.1",
"protein_id": "ENSP00000614266.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 611,
"cds_start": 1784,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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{
"score": -8,
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"BS2"
],
"verdict": "Benign",
"transcript": "NM_001569.4",
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"effects": [
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],
"inheritance_mode": "Unknown",
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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
}