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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: 3-119527781-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=119527781&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 119527781,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005191.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD80",
"gene_hgnc_id": 1700,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286His",
"transcript": "NM_005191.4",
"protein_id": "NP_005182.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 288,
"cds_start": 857,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264246.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005191.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD80",
"gene_hgnc_id": 1700,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286His",
"transcript": "ENST00000264246.8",
"protein_id": "ENSP00000264246.3",
"transcript_support_level": 1,
"aa_start": 286,
"aa_end": null,
"aa_length": 288,
"cds_start": 857,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005191.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264246.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD80",
"gene_hgnc_id": 1700,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286His",
"transcript": "ENST00000478182.5",
"protein_id": "ENSP00000418364.1",
"transcript_support_level": 1,
"aa_start": 286,
"aa_end": null,
"aa_length": 288,
"cds_start": 857,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478182.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD80",
"gene_hgnc_id": 1700,
"hgvs_c": "c.761G>A",
"hgvs_p": "p.Arg254His",
"transcript": "ENST00000383669.3",
"protein_id": "ENSP00000373165.3",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 256,
"cds_start": 761,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383669.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD80",
"gene_hgnc_id": 1700,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286His",
"transcript": "ENST00000853991.1",
"protein_id": "ENSP00000524050.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 288,
"cds_start": 857,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853991.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD80",
"gene_hgnc_id": 1700,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286His",
"transcript": "ENST00000853992.1",
"protein_id": "ENSP00000524051.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 288,
"cds_start": 857,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853992.1"
}
],
"gene_symbol": "CD80",
"gene_hgnc_id": 1700,
"dbsnp": "rs761485937",
"frequency_reference_population": 0.000021691463,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000218971,
"gnomad_genomes_af": 0.0000197169,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09213635325431824,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.076,
"revel_prediction": "Benign",
"alphamissense_score": 0.1198,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.929,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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_005191.4",
"gene_symbol": "CD80",
"hgnc_id": 1700,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286His"
}
],
"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
}