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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: 1-231265356-GT-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=231265356&ref=GT&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GNPAT",
"hgnc_id": 4416,
"hgvs_c": "c.632_633delGTinsCG",
"hgvs_p": "p.Arg211Pro",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_014236.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 680,
"aa_ref": "R",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2641,
"cdna_start": 799,
"cds_end": null,
"cds_length": 2043,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014236.4",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.632_633delGTinsCG",
"hgvs_p": "p.Arg211Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366647.9",
"protein_coding": true,
"protein_id": "NP_055051.1",
"strand": true,
"transcript": "NM_014236.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 680,
"aa_ref": "R",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2641,
"cdna_start": 799,
"cds_end": null,
"cds_length": 2043,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000366647.9",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.632_633delGTinsCG",
"hgvs_p": "p.Arg211Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014236.4",
"protein_coding": true,
"protein_id": "ENSP00000355607.4",
"strand": true,
"transcript": "ENST00000366647.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 691,
"aa_ref": "R",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 839,
"cds_end": null,
"cds_length": 2076,
"cds_start": 665,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851685.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.665_666delGTinsCG",
"hgvs_p": "p.Arg222Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521744.1",
"strand": true,
"transcript": "ENST00000851685.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 686,
"aa_ref": "R",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2473,
"cdna_start": 801,
"cds_end": null,
"cds_length": 2061,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926541.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.632_633delGTinsCG",
"hgvs_p": "p.Arg211Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596600.1",
"strand": true,
"transcript": "ENST00000926541.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 679,
"aa_ref": "R",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 812,
"cds_end": null,
"cds_length": 2040,
"cds_start": 629,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851681.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.629_630delGTinsCG",
"hgvs_p": "p.Arg210Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521740.1",
"strand": true,
"transcript": "ENST00000851681.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 795,
"cds_end": null,
"cds_length": 2034,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958394.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.623_624delGTinsCG",
"hgvs_p": "p.Arg208Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628453.1",
"strand": true,
"transcript": "ENST00000958394.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 674,
"aa_ref": "R",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 724,
"cds_end": null,
"cds_length": 2025,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851692.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.632_633delGTinsCG",
"hgvs_p": "p.Arg211Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521751.1",
"strand": true,
"transcript": "ENST00000851692.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 669,
"aa_ref": "R",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": 773,
"cds_end": null,
"cds_length": 2010,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851683.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.599_600delGTinsCG",
"hgvs_p": "p.Arg200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521742.1",
"strand": true,
"transcript": "ENST00000851683.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 665,
"aa_ref": "R",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2429,
"cdna_start": 808,
"cds_end": null,
"cds_length": 1998,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851682.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.632_633delGTinsCG",
"hgvs_p": "p.Arg211Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521741.1",
"strand": true,
"transcript": "ENST00000851682.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 656,
"aa_ref": "R",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2386,
"cdna_start": 798,
"cds_end": null,
"cds_length": 1971,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851688.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.632_633delGTinsCG",
"hgvs_p": "p.Arg211Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521747.1",
"strand": true,
"transcript": "ENST00000851688.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 637,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2305,
"cdna_start": 648,
"cds_end": null,
"cds_length": 1914,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958399.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.503_504delGTinsCG",
"hgvs_p": "p.Arg168Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628458.1",
"strand": true,
"transcript": "ENST00000958399.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 636,
"aa_ref": "R",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1911,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958398.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.500_501delGTinsCG",
"hgvs_p": "p.Arg167Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628457.1",
"strand": true,
"transcript": "ENST00000958398.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 627,
"aa_ref": "R",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 792,
"cds_end": null,
"cds_length": 1884,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851689.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.632_633delGTinsCG",
"hgvs_p": "p.Arg211Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521748.1",
"strand": true,
"transcript": "ENST00000851689.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 627,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 635,
"cds_end": null,
"cds_length": 1884,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958396.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.473_474delGTinsCG",
"hgvs_p": "p.Arg158Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628455.1",
"strand": true,
"transcript": "ENST00000958396.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1860,
"cds_start": 449,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001316350.2",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.449_450delGTinsCG",
"hgvs_p": "p.Arg150Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001303279.1",
"strand": true,
"transcript": "NM_001316350.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 609,
"aa_ref": "R",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 593,
"cds_end": null,
"cds_length": 1830,
"cds_start": 419,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851684.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.419_420delGTinsCG",
"hgvs_p": "p.Arg140Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521743.1",
"strand": true,
"transcript": "ENST00000851684.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2221,
"cdna_start": 794,
"cds_end": null,
"cds_length": 1815,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851691.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.632_633delGTinsCG",
"hgvs_p": "p.Arg211Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521750.1",
"strand": true,
"transcript": "ENST00000851691.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 599,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2216,
"cdna_start": 797,
"cds_end": null,
"cds_length": 1800,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958395.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.632_633delGTinsCG",
"hgvs_p": "p.Arg211Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628454.1",
"strand": true,
"transcript": "ENST00000958395.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 593,
"aa_ref": "R",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2326,
"cdna_start": 534,
"cds_end": null,
"cds_length": 1782,
"cds_start": 371,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926539.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.371_372delGTinsCG",
"hgvs_p": "p.Arg124Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596598.1",
"strand": true,
"transcript": "ENST00000926539.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 586,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1924,
"cdna_start": 765,
"cds_end": null,
"cds_length": 1761,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000416000.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.602_603delGTinsCG",
"hgvs_p": "p.Arg201Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411640.1",
"strand": true,
"transcript": "ENST00000416000.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 575,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 483,
"cds_end": null,
"cds_length": 1728,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958397.1",
"gene_hgnc_id": 4416,
"gene_symbol": "GNPAT",
"hgvs_c": "c.317_318delGTinsCG",
"hgvs_p": "p.Arg106Pro",
"intron_rank": null,
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