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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: 3-47002750-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47002750&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47002750,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000450053.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.5413delG",
"hgvs_p": "p.Ala1805fs",
"transcript": "NM_015175.3",
"protein_id": "NP_055990.1",
"transcript_support_level": null,
"aa_start": 1805,
"aa_end": null,
"aa_length": 2754,
"cds_start": 5413,
"cds_end": null,
"cds_length": 8265,
"cdna_start": 5609,
"cdna_end": null,
"cdna_length": 8842,
"mane_select": "ENST00000450053.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.5413delG",
"hgvs_p": "p.Ala1805fs",
"transcript": "ENST00000450053.8",
"protein_id": "ENSP00000415034.2",
"transcript_support_level": 2,
"aa_start": 1805,
"aa_end": null,
"aa_length": 2754,
"cds_start": 5413,
"cds_end": null,
"cds_length": 8265,
"cdna_start": 5609,
"cdna_end": null,
"cdna_length": 8842,
"mane_select": "NM_015175.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.3274delG",
"hgvs_p": "p.Ala1092fs",
"transcript": "ENST00000416683.5",
"protein_id": "ENSP00000410405.1",
"transcript_support_level": 1,
"aa_start": 1092,
"aa_end": null,
"aa_length": 2041,
"cds_start": 3274,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 3276,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.517delG",
"hgvs_p": "p.Ala173fs",
"transcript": "ENST00000443829.5",
"protein_id": "ENSP00000414560.1",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 1092,
"cds_start": 517,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.5311delG",
"hgvs_p": "p.Ala1771fs",
"transcript": "NM_001365116.2",
"protein_id": "NP_001352045.1",
"transcript_support_level": null,
"aa_start": 1771,
"aa_end": null,
"aa_length": 2720,
"cds_start": 5311,
"cds_end": null,
"cds_length": 8163,
"cdna_start": 5369,
"cdna_end": null,
"cdna_length": 8602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.5311delG",
"hgvs_p": "p.Ala1771fs",
"transcript": "ENST00000651747.1",
"protein_id": "ENSP00000499216.1",
"transcript_support_level": null,
"aa_start": 1771,
"aa_end": null,
"aa_length": 2720,
"cds_start": 5311,
"cds_end": null,
"cds_length": 8163,
"cdna_start": 5369,
"cdna_end": null,
"cdna_length": 8605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.5392delG",
"hgvs_p": "p.Ala1798fs",
"transcript": "XM_047447785.1",
"protein_id": "XP_047303741.1",
"transcript_support_level": null,
"aa_start": 1798,
"aa_end": null,
"aa_length": 2747,
"cds_start": 5392,
"cds_end": null,
"cds_length": 8244,
"cdna_start": 5450,
"cdna_end": null,
"cdna_length": 8683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.5332delG",
"hgvs_p": "p.Ala1778fs",
"transcript": "XM_006713072.4",
"protein_id": "XP_006713135.1",
"transcript_support_level": null,
"aa_start": 1778,
"aa_end": null,
"aa_length": 2727,
"cds_start": 5332,
"cds_end": null,
"cds_length": 8184,
"cdna_start": 5528,
"cdna_end": null,
"cdna_length": 8761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.5413delG",
"hgvs_p": "p.Ala1805fs",
"transcript": "XM_011533533.3",
"protein_id": "XP_011531835.1",
"transcript_support_level": null,
"aa_start": 1805,
"aa_end": null,
"aa_length": 2724,
"cds_start": 5413,
"cds_end": null,
"cds_length": 8175,
"cdna_start": 5609,
"cdna_end": null,
"cdna_length": 8752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.5044delG",
"hgvs_p": "p.Ala1682fs",
"transcript": "XM_047447786.1",
"protein_id": "XP_047303742.1",
"transcript_support_level": null,
"aa_start": 1682,
"aa_end": null,
"aa_length": 2631,
"cds_start": 5044,
"cds_end": null,
"cds_length": 7896,
"cdna_start": 5240,
"cdna_end": null,
"cdna_length": 8473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4963delG",
"hgvs_p": "p.Ala1655fs",
"transcript": "XM_047447787.1",
"protein_id": "XP_047303743.1",
"transcript_support_level": null,
"aa_start": 1655,
"aa_end": null,
"aa_length": 2604,
"cds_start": 4963,
"cds_end": null,
"cds_length": 7815,
"cdna_start": 5159,
"cdna_end": null,
"cdna_length": 8392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4873delG",
"hgvs_p": "p.Ala1625fs",
"transcript": "XM_047447788.1",
"protein_id": "XP_047303744.1",
"transcript_support_level": null,
"aa_start": 1625,
"aa_end": null,
"aa_length": 2574,
"cds_start": 4873,
"cds_end": null,
"cds_length": 7725,
"cdna_start": 6097,
"cdna_end": null,
"cdna_length": 9330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4678delG",
"hgvs_p": "p.Ala1560fs",
"transcript": "XM_047447789.1",
"protein_id": "XP_047303745.1",
"transcript_support_level": null,
"aa_start": 1560,
"aa_end": null,
"aa_length": 2509,
"cds_start": 4678,
"cds_end": null,
"cds_length": 7530,
"cdna_start": 5365,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.5413delG",
"hgvs_p": "p.Ala1805fs",
"transcript": "XM_047447790.1",
"protein_id": "XP_047303746.1",
"transcript_support_level": null,
"aa_start": 1805,
"aa_end": null,
"aa_length": 2435,
"cds_start": 5413,
"cds_end": null,
"cds_length": 7308,
"cdna_start": 5609,
"cdna_end": null,
"cdna_length": 7598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4321delG",
"hgvs_p": "p.Ala1441fs",
"transcript": "XM_047447791.1",
"protein_id": "XP_047303747.1",
"transcript_support_level": null,
"aa_start": 1441,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4321,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 4434,
"cdna_end": null,
"cdna_length": 7667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.1885delG",
"hgvs_p": "p.Ala629fs",
"transcript": "XM_047447794.1",
"protein_id": "XP_047303750.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 1578,
"cds_start": 1885,
"cds_end": null,
"cds_length": 4737,
"cdna_start": 2008,
"cdna_end": null,
"cdna_length": 5241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.*45delG",
"hgvs_p": null,
"transcript": "XM_047447792.1",
"protein_id": "XP_047303748.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1793,
"cds_start": -4,
"cds_end": null,
"cds_length": 5382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.*45delG",
"hgvs_p": null,
"transcript": "XM_047447793.1",
"protein_id": "XP_047303749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1670,
"cds_start": -4,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"dbsnp": "rs794726683",
"frequency_reference_population": 0.000004322997,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.000004323,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.532,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000450053.8",
"gene_symbol": "NBEAL2",
"hgnc_id": 31928,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5413delG",
"hgvs_p": "p.Ala1805fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}