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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-154018741-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154018741&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154018741,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001569.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.587T>C",
"hgvs_p": "p.Phe196Ser",
"transcript": "NM_001569.4",
"protein_id": "NP_001560.2",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 712,
"cds_start": 587,
"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": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.587T>C",
"hgvs_p": "p.Phe196Ser",
"transcript": "ENST00000369980.8",
"protein_id": "ENSP00000358997.3",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 712,
"cds_start": 587,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.587T>C",
"hgvs_p": "p.Phe196Ser",
"transcript": "ENST00000393687.6",
"protein_id": "ENSP00000377291.2",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 682,
"cds_start": 587,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.587T>C",
"hgvs_p": "p.Phe196Ser",
"transcript": "ENST00000369974.6",
"protein_id": "ENSP00000358991.2",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 633,
"cds_start": 587,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.587T>C",
"hgvs_p": "p.Phe196Ser",
"transcript": "ENST00000927323.1",
"protein_id": "ENSP00000597382.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 712,
"cds_start": 587,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.587T>C",
"hgvs_p": "p.Phe196Ser",
"transcript": "ENST00000927320.1",
"protein_id": "ENSP00000597379.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 711,
"cds_start": 587,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.578T>C",
"hgvs_p": "p.Phe193Ser",
"transcript": "ENST00000927318.1",
"protein_id": "ENSP00000597377.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 709,
"cds_start": 578,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.665T>C",
"hgvs_p": "p.Phe222Ser",
"transcript": "NM_001410701.1",
"protein_id": "NP_001397630.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 708,
"cds_start": 665,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.665T>C",
"hgvs_p": "p.Phe222Ser",
"transcript": "ENST00000429936.6",
"protein_id": "ENSP00000392662.2",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 708,
"cds_start": 665,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.578T>C",
"hgvs_p": "p.Phe193Ser",
"transcript": "ENST00000927319.1",
"protein_id": "ENSP00000597378.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 708,
"cds_start": 578,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.665T>C",
"hgvs_p": "p.Phe222Ser",
"transcript": "ENST00000944209.1",
"protein_id": "ENSP00000614268.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 707,
"cds_start": 665,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.557T>C",
"hgvs_p": "p.Phe186Ser",
"transcript": "ENST00000927322.1",
"protein_id": "ENSP00000597381.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 702,
"cds_start": 557,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.554T>C",
"hgvs_p": "p.Phe185Ser",
"transcript": "ENST00000927321.1",
"protein_id": "ENSP00000597380.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 701,
"cds_start": 554,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.587T>C",
"hgvs_p": "p.Phe196Ser",
"transcript": "NM_001025242.2",
"protein_id": "NP_001020413.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 682,
"cds_start": 587,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.578T>C",
"hgvs_p": "p.Phe193Ser",
"transcript": "ENST00000927325.1",
"protein_id": "ENSP00000597384.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 679,
"cds_start": 578,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.455T>C",
"hgvs_p": "p.Phe152Ser",
"transcript": "ENST00000944210.1",
"protein_id": "ENSP00000614269.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 668,
"cds_start": 455,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.587T>C",
"hgvs_p": "p.Phe196Ser",
"transcript": "NM_001025243.2",
"protein_id": "NP_001020414.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 633,
"cds_start": 587,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.419T>C",
"hgvs_p": "p.Phe140Ser",
"transcript": "ENST00000927324.1",
"protein_id": "ENSP00000597383.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 626,
"cds_start": 419,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.587T>C",
"hgvs_p": "p.Phe196Ser",
"transcript": "ENST00000944207.1",
"protein_id": "ENSP00000614266.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 611,
"cds_start": 587,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944207.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.587T>C",
"hgvs_p": "p.Phe196Ser",
"transcript": "ENST00000944211.1",
"protein_id": "ENSP00000614270.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 602,
"cds_start": 587,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944211.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.587T>C",
"hgvs_p": "p.Phe196Ser",
"transcript": "XM_047442097.1",
"protein_id": "XP_047298053.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 697,
"cds_start": 587,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442097.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.587T>C",
"hgvs_p": "p.Phe196Ser",
"transcript": "XM_047442098.1",
"protein_id": "XP_047298054.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 667,
"cds_start": 587,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442098.1"
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.942,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -6,
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"pathogenic_score": 0,
"criteria": [
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"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001569.4",
"gene_symbol": "IRAK1",
"hgnc_id": 6112,
"effects": [
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],
"inheritance_mode": "Unknown",
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"hgvs_p": "p.Phe196Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}