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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: 10-45412256-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=45412256&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ALOX5",
"hgnc_id": 435,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_000698.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.2734,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.12,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5094830393791199,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 674,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2519,
"cdna_start": 561,
"cds_end": null,
"cds_length": 2025,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000698.5",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374391.7",
"protein_coding": true,
"protein_id": "NP_000689.1",
"strand": true,
"transcript": "NM_000698.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 674,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2519,
"cdna_start": 561,
"cds_end": null,
"cds_length": 2025,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000374391.7",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000698.5",
"protein_coding": true,
"protein_id": "ENSP00000363512.2",
"strand": true,
"transcript": "ENST00000374391.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 617,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 601,
"cds_end": null,
"cds_length": 1854,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000542434.5",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437634.1",
"strand": true,
"transcript": "ENST00000542434.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 686,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2599,
"cdna_start": 605,
"cds_end": null,
"cds_length": 2061,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851643.1",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521702.1",
"strand": true,
"transcript": "ENST00000851643.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 683,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2584,
"cdna_start": 597,
"cds_end": null,
"cds_length": 2052,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961188.1",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631247.1",
"strand": true,
"transcript": "ENST00000961188.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 665,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 532,
"cds_end": null,
"cds_length": 1998,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851648.1",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521707.1",
"strand": true,
"transcript": "ENST00000851648.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 645,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2432,
"cdna_start": 561,
"cds_end": null,
"cds_length": 1938,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001320861.2",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307790.1",
"strand": true,
"transcript": "NM_001320861.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 645,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 627,
"cds_end": null,
"cds_length": 1938,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851642.1",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521701.1",
"strand": true,
"transcript": "ENST00000851642.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 645,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2405,
"cdna_start": 534,
"cds_end": null,
"cds_length": 1938,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851647.1",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521706.1",
"strand": true,
"transcript": "ENST00000851647.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 642,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": 561,
"cds_end": null,
"cds_length": 1929,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001256153.3",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243082.1",
"strand": true,
"transcript": "NM_001256153.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 642,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 599,
"cds_end": null,
"cds_length": 1929,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851644.1",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521703.1",
"strand": true,
"transcript": "ENST00000851644.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 626,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 552,
"cds_end": null,
"cds_length": 1881,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961191.1",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631250.1",
"strand": true,
"transcript": "ENST00000961191.1",
"transcript_support_level": null
},
{
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"aa_length": 625,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1878,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851645.1",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521704.1",
"strand": true,
"transcript": "ENST00000851645.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 617,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2348,
"cdna_start": 561,
"cds_end": null,
"cds_length": 1854,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001256154.3",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243083.1",
"strand": true,
"transcript": "NM_001256154.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 606,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 557,
"cds_end": null,
"cds_length": 1821,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961190.1",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631249.1",
"strand": true,
"transcript": "ENST00000961190.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 561,
"cds_end": null,
"cds_length": 1767,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851646.1",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521705.1",
"strand": true,
"transcript": "ENST00000851646.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 576,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2249,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1731,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961189.1",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000631248.1",
"strand": true,
"transcript": "ENST00000961189.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 504,
"cds_end": null,
"cds_length": 1707,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
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"feature": "ENST00000961192.1",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000631251.1",
"strand": true,
"transcript": "ENST00000961192.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 599,
"cds_end": null,
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"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001320862.2",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.62G>A",
"hgvs_p": "p.Arg21His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307791.1",
"strand": true,
"transcript": "NM_001320862.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 561,
"cds_end": null,
"cds_length": 1767,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047424934.1",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280890.1",
"strand": true,
"transcript": "XM_047424934.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 585,
"aa_ref": "R",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 561,
"cds_end": null,
"cds_length": 1758,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047424936.1",
"gene_hgnc_id": 435,
"gene_symbol": "ALOX5",
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280892.1",
"strand": true,
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}