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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: 8-38207599-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38207599&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38207599,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004874.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG4",
"gene_hgnc_id": 940,
"hgvs_c": "c.466T>C",
"hgvs_p": "p.Tyr156His",
"transcript": "NM_004874.4",
"protein_id": "NP_004865.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 457,
"cds_start": 466,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": "ENST00000287322.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG4",
"gene_hgnc_id": 940,
"hgvs_c": "c.466T>C",
"hgvs_p": "p.Tyr156His",
"transcript": "ENST00000287322.5",
"protein_id": "ENSP00000287322.4",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 457,
"cds_start": 466,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": "NM_004874.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG4",
"gene_hgnc_id": 940,
"hgvs_c": "c.358T>C",
"hgvs_p": "p.Tyr120His",
"transcript": "ENST00000432471.6",
"protein_id": "ENSP00000393298.2",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 421,
"cds_start": 358,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG4",
"gene_hgnc_id": 940,
"hgvs_c": "c.358T>C",
"hgvs_p": "p.Tyr120His",
"transcript": "NM_001204878.2",
"protein_id": "NP_001191807.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 421,
"cds_start": 358,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAG4",
"gene_hgnc_id": 940,
"hgvs_c": "c.7T>C",
"hgvs_p": "p.Tyr3His",
"transcript": "ENST00000521311.1",
"protein_id": "ENSP00000430250.1",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 155,
"cds_start": 7,
"cds_end": null,
"cds_length": 468,
"cdna_start": 7,
"cdna_end": null,
"cdna_length": 719,
"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": "BAG4",
"gene_hgnc_id": 940,
"hgvs_c": "n.388T>C",
"hgvs_p": null,
"transcript": "ENST00000521282.1",
"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": 530,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285632",
"gene_hgnc_id": null,
"hgvs_c": "n.760+54A>G",
"hgvs_p": null,
"transcript": "ENST00000720731.1",
"protein_id": null,
"transcript_support_level": null,
"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": 917,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285632",
"gene_hgnc_id": null,
"hgvs_c": "n.789+54A>G",
"hgvs_p": null,
"transcript": "ENST00000720732.1",
"protein_id": null,
"transcript_support_level": null,
"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": 933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BAG4",
"gene_hgnc_id": 940,
"dbsnp": "rs537081631",
"frequency_reference_population": 0.000037174075,
"hom_count_reference_population": 0,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.0000396757,
"gnomad_genomes_af": 0.0000131427,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24698030948638916,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.492,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2343,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.788,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004874.4",
"gene_symbol": "BAG4",
"hgnc_id": 940,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.466T>C",
"hgvs_p": "p.Tyr156His"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000720731.1",
"gene_symbol": "ENSG00000285632",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.760+54A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}