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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: 5-179833213-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=179833213&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 179833213,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000389805.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.936G>A",
"hgvs_p": "p.Arg312Arg",
"transcript": "NM_003900.5",
"protein_id": "NP_003891.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 440,
"cds_start": 936,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": "ENST00000389805.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.936G>A",
"hgvs_p": "p.Arg312Arg",
"transcript": "ENST00000389805.9",
"protein_id": "ENSP00000374455.4",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 440,
"cds_start": 936,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": "NM_003900.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Arg228Arg",
"transcript": "ENST00000360718.5",
"protein_id": "ENSP00000353944.5",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 356,
"cds_start": 684,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.936G>A",
"hgvs_p": "p.Arg312Arg",
"transcript": "ENST00000510187.5",
"protein_id": "ENSP00000424477.1",
"transcript_support_level": 5,
"aa_start": 312,
"aa_end": null,
"aa_length": 378,
"cds_start": 936,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Arg228Arg",
"transcript": "NM_001142298.2",
"protein_id": "NP_001135770.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 356,
"cds_start": 684,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Arg228Arg",
"transcript": "NM_001142299.2",
"protein_id": "NP_001135771.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 356,
"cds_start": 684,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"hgvs_c": "n.635G>A",
"hgvs_p": null,
"transcript": "ENST00000466342.1",
"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": 808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SQSTM1",
"gene_hgnc_id": 11280,
"dbsnp": "rs4797",
"frequency_reference_population": 0.54430914,
"hom_count_reference_population": 242261,
"allele_count_reference_population": 874781,
"gnomad_exomes_af": 0.544746,
"gnomad_genomes_af": 0.540126,
"gnomad_exomes_ac": 792697,
"gnomad_genomes_ac": 82084,
"gnomad_exomes_homalt": 219492,
"gnomad_genomes_homalt": 22769,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.005,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000389805.9",
"gene_symbol": "SQSTM1",
"hgnc_id": 11280,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.936G>A",
"hgvs_p": "p.Arg312Arg"
}
],
"clinvar_disease": " and gaze palsy, childhood-onset, distal, dystonia, early-onset, with rimmed vacuoles,Frontotemporal dementia and/or amyotrophic lateral sclerosis 1,Frontotemporal dementia and/or amyotrophic lateral sclerosis 3,Myopathy,Neurodegeneration with ataxia,Paget disease of bone 2,Paget disease of bone 3,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:10",
"phenotype_combined": "not specified|Paget disease of bone 3|Paget disease of bone 2, early-onset|not provided|Paget disease of bone 2, early-onset;Frontotemporal dementia and/or amyotrophic lateral sclerosis 1|Frontotemporal dementia and/or amyotrophic lateral sclerosis 3|Myopathy, distal, with rimmed vacuoles|Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}