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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: 1-155337700-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155337700&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PVS1_Moderate",
"PP5",
"BS2_Supporting"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "ASH1L",
"hgnc_id": 19088,
"hgvs_c": "c.8869dupA",
"hgvs_p": "p.Arg2957fs",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 2,
"transcript": "NM_001366177.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PP5,BS2_Supporting",
"acmg_score": 2,
"allele_count_reference_population": 32,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " autosomal dominant 52,Intellectual disability",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2964,
"aa_ref": "R",
"aa_start": 2952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12037,
"cdna_start": 9604,
"cds_end": null,
"cds_length": 8895,
"cds_start": 8854,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_018489.3",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8854dupA",
"hgvs_p": "p.Arg2952fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392403.8",
"protein_coding": true,
"protein_id": "NP_060959.2",
"strand": false,
"transcript": "NM_018489.3",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2964,
"aa_ref": "R",
"aa_start": 2952,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12037,
"cdna_start": 9604,
"cds_end": null,
"cds_length": 8895,
"cds_start": 8854,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000392403.8",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8854dupA",
"hgvs_p": "p.Arg2952fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018489.3",
"protein_coding": true,
"protein_id": "ENSP00000376204.3",
"strand": false,
"transcript": "ENST00000392403.8",
"transcript_support_level": 5
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2969,
"aa_ref": "R",
"aa_start": 2957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11942,
"cdna_start": 9509,
"cds_end": null,
"cds_length": 8910,
"cds_start": 8869,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000368346.7",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8869dupA",
"hgvs_p": "p.Arg2957fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357330.3",
"strand": false,
"transcript": "ENST00000368346.7",
"transcript_support_level": 1
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2969,
"aa_ref": "R",
"aa_start": 2957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12052,
"cdna_start": 9619,
"cds_end": null,
"cds_length": 8910,
"cds_start": 8869,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001366177.2",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8869dupA",
"hgvs_p": "p.Arg2957fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353106.1",
"strand": false,
"transcript": "NM_001366177.2",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2969,
"aa_ref": "R",
"aa_start": 2957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11431,
"cdna_start": 9031,
"cds_end": null,
"cds_length": 8910,
"cds_start": 8869,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000679133.1",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8869dupA",
"hgvs_p": "p.Arg2957fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504026.1",
"strand": false,
"transcript": "ENST00000679133.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2964,
"aa_ref": "R",
"aa_start": 2952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11457,
"cdna_start": 9043,
"cds_end": null,
"cds_length": 8895,
"cds_start": 8854,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000677213.1",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8854dupA",
"hgvs_p": "p.Arg2952fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503315.1",
"strand": false,
"transcript": "ENST00000677213.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2964,
"aa_ref": "R",
"aa_start": 2952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11549,
"cdna_start": 9135,
"cds_end": null,
"cds_length": 8895,
"cds_start": 8854,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000678117.1",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8854dupA",
"hgvs_p": "p.Arg2952fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504629.1",
"strand": false,
"transcript": "ENST00000678117.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2964,
"aa_ref": "R",
"aa_start": 2952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11530,
"cdna_start": 9116,
"cds_end": null,
"cds_length": 8895,
"cds_start": 8854,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000679097.1",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8854dupA",
"hgvs_p": "p.Arg2952fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503265.1",
"strand": false,
"transcript": "ENST00000679097.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2963,
"aa_ref": "R",
"aa_start": 2951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11364,
"cdna_start": 8950,
"cds_end": null,
"cds_length": 8892,
"cds_start": 8851,
"consequences": [
"frameshift_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000677825.1",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8851dupA",
"hgvs_p": "p.Arg2951fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503792.1",
"strand": false,
"transcript": "ENST00000677825.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2904,
"aa_ref": "R",
"aa_start": 2892,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11250,
"cdna_start": 8836,
"cds_end": null,
"cds_length": 8715,
"cds_start": 8674,
"consequences": [
"frameshift_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000679333.1",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8674dupA",
"hgvs_p": "p.Arg2892fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504598.1",
"strand": false,
"transcript": "ENST00000679333.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 338,
"aa_ref": "R",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3377,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1017,
"cds_start": 976,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000677992.1",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.976dupA",
"hgvs_p": "p.Arg326fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503958.1",
"strand": false,
"transcript": "ENST00000677992.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2964,
"aa_ref": "R",
"aa_start": 2952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11517,
"cdna_start": 9084,
"cds_end": null,
"cds_length": 8895,
"cds_start": 8854,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_006711450.4",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8854dupA",
"hgvs_p": "p.Arg2952fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711513.1",
"strand": false,
"transcript": "XM_006711450.4",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2964,
"aa_ref": "R",
"aa_start": 2952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11592,
"cdna_start": 9159,
"cds_end": null,
"cds_length": 8895,
"cds_start": 8854,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_006711451.4",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8854dupA",
"hgvs_p": "p.Arg2952fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711514.1",
"strand": false,
"transcript": "XM_006711451.4",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2964,
"aa_ref": "R",
"aa_start": 2952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11516,
"cdna_start": 9083,
"cds_end": null,
"cds_length": 8895,
"cds_start": 8854,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_017001785.2",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8854dupA",
"hgvs_p": "p.Arg2952fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857274.1",
"strand": false,
"transcript": "XM_017001785.2",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2964,
"aa_ref": "R",
"aa_start": 2952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11634,
"cdna_start": 9201,
"cds_end": null,
"cds_length": 8895,
"cds_start": 8854,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047425230.1",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8854dupA",
"hgvs_p": "p.Arg2952fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281186.1",
"strand": false,
"transcript": "XM_047425230.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2964,
"aa_ref": "R",
"aa_start": 2952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15273,
"cdna_start": 12840,
"cds_end": null,
"cds_length": 8895,
"cds_start": 8854,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047425235.1",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8854dupA",
"hgvs_p": "p.Arg2952fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281191.1",
"strand": false,
"transcript": "XM_047425235.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2964,
"aa_ref": "R",
"aa_start": 2952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12524,
"cdna_start": 10091,
"cds_end": null,
"cds_length": 8895,
"cds_start": 8854,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047425241.1",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8854dupA",
"hgvs_p": "p.Arg2952fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281197.1",
"strand": false,
"transcript": "XM_047425241.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2904,
"aa_ref": "R",
"aa_start": 2892,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11412,
"cdna_start": 8979,
"cds_end": null,
"cds_length": 8715,
"cds_start": 8674,
"consequences": [
"frameshift_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047425247.1",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8674dupA",
"hgvs_p": "p.Arg2892fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281203.1",
"strand": false,
"transcript": "XM_047425247.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 2904,
"aa_ref": "R",
"aa_start": 2892,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11336,
"cdna_start": 8903,
"cds_end": null,
"cds_length": 8715,
"cds_start": 8674,
"consequences": [
"frameshift_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047425248.1",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.8674dupA",
"hgvs_p": "p.Arg2892fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281204.1",
"strand": false,
"transcript": "XM_047425248.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "R",
"aa_start": 1232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6292,
"cdna_start": 3859,
"cds_end": null,
"cds_length": 3735,
"cds_start": 3694,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_011509770.4",
"gene_hgnc_id": 19088,
"gene_symbol": "ASH1L",
"hgvs_c": "c.3694dupA",
"hgvs_p": "p.Arg1232fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508072.1",
"strand": false,
"transcript": "XM_011509770.4",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "R",
"aa_start": 1232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6265,
"cdna_start": 3832,
"cds_end": null,
"cds_length": 3735,
"cds_start": 3694,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_017001788.2",
"gene_hgnc_id": 19088,
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