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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: 12-114356005-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=114356005&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 114356005,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000405440.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"hgvs_c": "c.1084C>G",
"hgvs_p": "p.Gln362Glu",
"transcript": "NM_181486.4",
"protein_id": "NP_852259.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 518,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": "ENST00000405440.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"hgvs_c": "c.1084C>G",
"hgvs_p": "p.Gln362Glu",
"transcript": "ENST00000405440.7",
"protein_id": "ENSP00000384152.3",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 518,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": "NM_181486.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"hgvs_c": "c.1084C>G",
"hgvs_p": "p.Gln362Glu",
"transcript": "ENST00000310346.8",
"protein_id": "ENSP00000309913.4",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 518,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"hgvs_c": "c.934C>G",
"hgvs_p": "p.Gln312Glu",
"transcript": "ENST00000349716.9",
"protein_id": "ENSP00000337723.5",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 468,
"cds_start": 934,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"hgvs_c": "c.1084C>G",
"hgvs_p": "p.Gln362Glu",
"transcript": "NM_000192.3",
"protein_id": "NP_000183.2",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 518,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 3826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"hgvs_c": "c.934C>G",
"hgvs_p": "p.Gln312Glu",
"transcript": "NM_080717.4",
"protein_id": "NP_542448.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 468,
"cds_start": 934,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"hgvs_c": "c.1132C>G",
"hgvs_p": "p.Gln378Glu",
"transcript": "XM_017019912.2",
"protein_id": "XP_016875401.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 534,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 2806,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBX5",
"gene_hgnc_id": 11604,
"dbsnp": "rs765204502",
"frequency_reference_population": 0.000030099589,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000300996,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15260955691337585,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.1237,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.808,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000405440.7",
"gene_symbol": "TBX5",
"hgnc_id": 11604,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1084C>G",
"hgvs_p": "p.Gln362Glu"
}
],
"clinvar_disease": "Aortic valve disease 2,Cardiovascular phenotype",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Aortic valve disease 2|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}