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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: 1-16055508-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16055508&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PS3",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "CLCNKB",
"hgnc_id": 2027,
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"inheritance_mode": "AR",
"pathogenic_score": 20,
"score": 20,
"transcript": "NM_000085.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PS3,PP5_Very_Strong",
"acmg_score": 20,
"allele_count_reference_population": 162,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.56,
"chr": "1",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " type 3, with hypocalciuria,Bartter disease type 3,Bartter disease type 4B,Bartter syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5600000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 687,
"aa_ref": "W",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1830,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_000085.5",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375679.9",
"protein_coding": true,
"protein_id": "NP_000076.2",
"strand": true,
"transcript": "NM_000085.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 687,
"aa_ref": "W",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1830,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000375679.9",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000085.5",
"protein_coding": true,
"protein_id": "ENSP00000364831.5",
"strand": true,
"transcript": "ENST00000375679.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 705,
"aa_ref": "W",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1884,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000906263.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1884G>A",
"hgvs_p": "p.Trp628*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576322.1",
"strand": true,
"transcript": "ENST00000906263.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 704,
"aa_ref": "W",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 1951,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1884,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000906270.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1884G>A",
"hgvs_p": "p.Trp628*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576329.1",
"strand": true,
"transcript": "ENST00000906270.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 694,
"aa_ref": "W",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 1877,
"cds_end": null,
"cds_length": 2085,
"cds_start": 1830,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906271.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576330.1",
"strand": true,
"transcript": "ENST00000906271.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 693,
"aa_ref": "W",
"aa_start": 616,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2568,
"cdna_start": 1931,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1848,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906265.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1848G>A",
"hgvs_p": "p.Trp616*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576324.1",
"strand": true,
"transcript": "ENST00000906265.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 692,
"aa_ref": "W",
"aa_start": 616,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2598,
"cdna_start": 1945,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1848,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906262.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1848G>A",
"hgvs_p": "p.Trp616*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576321.1",
"strand": true,
"transcript": "ENST00000906262.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 691,
"aa_ref": "W",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": 1952,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1842,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906261.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1842G>A",
"hgvs_p": "p.Trp614*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576320.1",
"strand": true,
"transcript": "ENST00000906261.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 690,
"aa_ref": "W",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": 1909,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1842,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906268.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1842G>A",
"hgvs_p": "p.Trp614*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576327.1",
"strand": true,
"transcript": "ENST00000906268.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 687,
"aa_ref": "W",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2869,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1830,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000682338.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507062.1",
"strand": true,
"transcript": "ENST00000682338.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 687,
"aa_ref": "W",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3121,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1830,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000682793.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506910.1",
"strand": true,
"transcript": "ENST00000682793.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 687,
"aa_ref": "W",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3331,
"cdna_start": 2734,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1830,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000684324.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507937.1",
"strand": true,
"transcript": "ENST00000684324.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 687,
"aa_ref": "W",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2592,
"cdna_start": 2022,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1830,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000684545.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506733.1",
"strand": true,
"transcript": "ENST00000684545.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 687,
"aa_ref": "W",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 1898,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1830,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000906275.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576334.1",
"strand": true,
"transcript": "ENST00000906275.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 686,
"aa_ref": "W",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2938,
"cdna_start": 2366,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1830,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000683578.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507430.1",
"strand": true,
"transcript": "ENST00000683578.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 686,
"aa_ref": "W",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3294,
"cdna_start": 2671,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1830,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906258.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576317.1",
"strand": true,
"transcript": "ENST00000906258.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 686,
"aa_ref": "W",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2692,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1830,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906259.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576318.1",
"strand": true,
"transcript": "ENST00000906259.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
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"aa_length": 686,
"aa_ref": "W",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2637,
"cdna_start": 2016,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1830,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000906274.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1830G>A",
"hgvs_p": "p.Trp610*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576333.1",
"strand": true,
"transcript": "ENST00000906274.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 684,
"aa_ref": "W",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1821,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906272.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1821G>A",
"hgvs_p": "p.Trp607*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576331.1",
"strand": true,
"transcript": "ENST00000906272.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 683,
"aa_ref": "W",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 1957,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1821,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906260.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1821G>A",
"hgvs_p": "p.Trp607*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576319.1",
"strand": true,
"transcript": "ENST00000906260.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 667,
"aa_ref": "W",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 2004,
"cds_start": 1770,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000906269.1",
"gene_hgnc_id": 2027,
"gene_symbol": "CLCNKB",
"hgvs_c": "c.1770G>A",
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