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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: 15-52124529-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=52124529&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 52124529,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000261837.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB5",
"gene_hgnc_id": 4401,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374*",
"transcript": "NM_016194.4",
"protein_id": "NP_057278.2",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 395,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 8934,
"mane_select": "ENST00000261837.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB5",
"gene_hgnc_id": 4401,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374*",
"transcript": "ENST00000261837.12",
"protein_id": "ENSP00000261837.7",
"transcript_support_level": 5,
"aa_start": 374,
"aa_end": null,
"aa_length": 395,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 8934,
"mane_select": "NM_016194.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB5",
"gene_hgnc_id": 4401,
"hgvs_c": "c.994C>T",
"hgvs_p": "p.Arg332*",
"transcript": "ENST00000358784.11",
"protein_id": "ENSP00000351635.7",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 353,
"cds_start": 994,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB5",
"gene_hgnc_id": 4401,
"hgvs_c": "c.784C>T",
"hgvs_p": "p.Arg262*",
"transcript": "ENST00000396335.8",
"protein_id": "ENSP00000379626.4",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 283,
"cds_start": 784,
"cds_end": null,
"cds_length": 852,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB5",
"gene_hgnc_id": 4401,
"hgvs_c": "c.994C>T",
"hgvs_p": "p.Arg332*",
"transcript": "NM_006578.4",
"protein_id": "NP_006569.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 353,
"cds_start": 994,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 8765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB5",
"gene_hgnc_id": 4401,
"hgvs_c": "c.838C>T",
"hgvs_p": "p.Arg280*",
"transcript": "NM_001379343.1",
"protein_id": "NP_001366272.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 301,
"cds_start": 838,
"cds_end": null,
"cds_length": 906,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 8684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB5",
"gene_hgnc_id": 4401,
"hgvs_c": "c.994C>T",
"hgvs_p": "p.Arg332*",
"transcript": "XM_011521162.4",
"protein_id": "XP_011519464.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 353,
"cds_start": 994,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 9162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB5",
"gene_hgnc_id": 4401,
"hgvs_c": "n.808C>T",
"hgvs_p": null,
"transcript": "ENST00000557936.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB5",
"gene_hgnc_id": 4401,
"hgvs_c": "n.*305C>T",
"hgvs_p": null,
"transcript": "ENST00000558519.5",
"protein_id": "ENSP00000453339.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB5",
"gene_hgnc_id": 4401,
"hgvs_c": "n.1601C>T",
"hgvs_p": null,
"transcript": "ENST00000559348.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB5",
"gene_hgnc_id": 4401,
"hgvs_c": "n.*305C>T",
"hgvs_p": null,
"transcript": "ENST00000558519.5",
"protein_id": "ENSP00000453339.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNB5",
"gene_hgnc_id": 4401,
"hgvs_c": "n.959+635C>T",
"hgvs_p": null,
"transcript": "ENST00000560085.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259709",
"gene_hgnc_id": null,
"hgvs_c": "n.-32G>A",
"hgvs_p": null,
"transcript": "ENST00000557898.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB5",
"gene_hgnc_id": 4401,
"hgvs_c": "n.*10C>T",
"hgvs_p": null,
"transcript": "ENST00000559541.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GNB5",
"gene_hgnc_id": 4401,
"dbsnp": "rs773902879",
"frequency_reference_population": 0.000012393509,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000130003,
"gnomad_genomes_af": 0.0000065684,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4399999976158142,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"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": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.257,
"phylop100way_prediction": "Uncertain_significance",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000261837.12",
"gene_symbol": "GNB5",
"hgnc_id": 4401,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374*"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000557898.1",
"gene_symbol": "ENSG00000259709",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-32G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Gnb5-related intellectual disability-cardiac arrhythmia syndrome,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Gnb5-related intellectual disability-cardiac arrhythmia syndrome|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}