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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: 14-23358947-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23358947&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23358947,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005864.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"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": "EFS",
"gene_hgnc_id": 16898,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Gly394Arg",
"transcript": "NM_005864.4",
"protein_id": "NP_005855.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 561,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": "ENST00000216733.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"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": "EFS",
"gene_hgnc_id": 16898,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Gly394Arg",
"transcript": "ENST00000216733.8",
"protein_id": "ENSP00000216733.3",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 561,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": "NM_005864.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFS",
"gene_hgnc_id": 16898,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Gly301Arg",
"transcript": "ENST00000351354.3",
"protein_id": "ENSP00000340607.3",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 468,
"cds_start": 901,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFS",
"gene_hgnc_id": 16898,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Gly301Arg",
"transcript": "NM_032459.3",
"protein_id": "NP_115835.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 468,
"cds_start": 901,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "EFS",
"gene_hgnc_id": 16898,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Gly225Arg",
"transcript": "NM_001277174.2",
"protein_id": "NP_001264103.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 392,
"cds_start": 673,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "EFS",
"gene_hgnc_id": 16898,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Gly225Arg",
"transcript": "ENST00000429593.6",
"protein_id": "ENSP00000416684.2",
"transcript_support_level": 2,
"aa_start": 225,
"aa_end": null,
"aa_length": 392,
"cds_start": 673,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EFS",
"gene_hgnc_id": 16898,
"hgvs_c": "c.882+370G>A",
"hgvs_p": null,
"transcript": "NM_001385607.1",
"protein_id": "NP_001372536.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": -4,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EFS",
"gene_hgnc_id": 16898,
"hgvs_c": "c.1161+370G>A",
"hgvs_p": null,
"transcript": "XM_005267256.3",
"protein_id": "XP_005267313.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": -4,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EFS",
"gene_hgnc_id": 16898,
"dbsnp": "rs201206399",
"frequency_reference_population": 0.0000074406885,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000410842,
"gnomad_genomes_af": 0.0000393861,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09903976321220398,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.1344,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.399,
"phylop100way_prediction": "Benign",
"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_005864.4",
"gene_symbol": "EFS",
"hgnc_id": 16898,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Gly394Arg"
}
],
"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
}