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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: 14-23357512-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23357512&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23357512,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005864.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "EFS",
"gene_hgnc_id": 16898,
"hgvs_c": "c.1400C>A",
"hgvs_p": "p.Pro467Gln",
"transcript": "NM_005864.4",
"protein_id": "NP_005855.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 561,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": "ENST00000216733.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"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": "EFS",
"gene_hgnc_id": 16898,
"hgvs_c": "c.1400C>A",
"hgvs_p": "p.Pro467Gln",
"transcript": "ENST00000216733.8",
"protein_id": "ENSP00000216733.3",
"transcript_support_level": 1,
"aa_start": 467,
"aa_end": null,
"aa_length": 561,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": "NM_005864.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFS",
"gene_hgnc_id": 16898,
"hgvs_c": "c.1121C>A",
"hgvs_p": "p.Pro374Gln",
"transcript": "ENST00000351354.3",
"protein_id": "ENSP00000340607.3",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 468,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFS",
"gene_hgnc_id": 16898,
"hgvs_c": "c.1121C>A",
"hgvs_p": "p.Pro374Gln",
"transcript": "NM_032459.3",
"protein_id": "NP_115835.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 468,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "EFS",
"gene_hgnc_id": 16898,
"hgvs_c": "c.1031C>A",
"hgvs_p": "p.Pro344Gln",
"transcript": "NM_001385607.1",
"protein_id": "NP_001372536.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 438,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "EFS",
"gene_hgnc_id": 16898,
"hgvs_c": "c.893C>A",
"hgvs_p": "p.Pro298Gln",
"transcript": "NM_001277174.2",
"protein_id": "NP_001264103.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 392,
"cds_start": 893,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"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": "EFS",
"gene_hgnc_id": 16898,
"hgvs_c": "c.893C>A",
"hgvs_p": "p.Pro298Gln",
"transcript": "ENST00000429593.6",
"protein_id": "ENSP00000416684.2",
"transcript_support_level": 2,
"aa_start": 298,
"aa_end": null,
"aa_length": 392,
"cds_start": 893,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFS",
"gene_hgnc_id": 16898,
"hgvs_c": "c.1310C>A",
"hgvs_p": "p.Pro437Gln",
"transcript": "XM_005267256.3",
"protein_id": "XP_005267313.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 531,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EFS",
"gene_hgnc_id": 16898,
"dbsnp": "rs747887708",
"frequency_reference_population": 0.0000020526097,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205261,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8668029308319092,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.497,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7991,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.512,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005864.4",
"gene_symbol": "EFS",
"hgnc_id": 16898,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1400C>A",
"hgvs_p": "p.Pro467Gln"
}
],
"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
}