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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: 11-2411734-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2411734&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 2411734,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_014555.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"hgvs_c": "c.2508A>G",
"hgvs_p": "p.Thr836Thr",
"transcript": "NM_014555.4",
"protein_id": "NP_055370.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2508,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000696290.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014555.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"hgvs_c": "c.2508A>G",
"hgvs_p": "p.Thr836Thr",
"transcript": "ENST00000696290.1",
"protein_id": "ENSP00000512529.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2508,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014555.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696290.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"hgvs_c": "c.2508A>G",
"hgvs_p": "p.Thr836Thr",
"transcript": "ENST00000533060.5",
"protein_id": "ENSP00000434121.1",
"transcript_support_level": 1,
"aa_start": 836,
"aa_end": null,
"aa_length": 1173,
"cds_start": 2508,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533060.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"hgvs_c": "c.2508A>G",
"hgvs_p": "p.Thr836Thr",
"transcript": "ENST00000528453.1",
"protein_id": "ENSP00000436809.1",
"transcript_support_level": 1,
"aa_start": 836,
"aa_end": null,
"aa_length": 1166,
"cds_start": 2508,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528453.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"hgvs_c": "c.2490A>G",
"hgvs_p": "p.Thr830Thr",
"transcript": "ENST00000533881.5",
"protein_id": "ENSP00000434383.1",
"transcript_support_level": 1,
"aa_start": 830,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2490,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533881.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"hgvs_c": "c.2562A>G",
"hgvs_p": "p.Thr854Thr",
"transcript": "XM_017017628.2",
"protein_id": "XP_016873117.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2562,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017628.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"hgvs_c": "c.2562A>G",
"hgvs_p": "p.Thr854Thr",
"transcript": "XM_047426858.1",
"protein_id": "XP_047282814.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1184,
"cds_start": 2562,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426858.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"hgvs_c": "c.1359A>G",
"hgvs_p": "p.Thr453Thr",
"transcript": "XM_047426859.1",
"protein_id": "XP_047282815.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 791,
"cds_start": 1359,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426859.1"
}
],
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"dbsnp": "rs2074234",
"frequency_reference_population": 0.34900996,
"hom_count_reference_population": 100061,
"allele_count_reference_population": 562736,
"gnomad_exomes_af": 0.350974,
"gnomad_genomes_af": 0.330143,
"gnomad_exomes_ac": 512547,
"gnomad_genomes_ac": 50189,
"gnomad_exomes_homalt": 91359,
"gnomad_genomes_homalt": 8702,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -7.709,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_014555.4",
"gene_symbol": "TRPM5",
"hgnc_id": 14323,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2508A>G",
"hgvs_p": "p.Thr836Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}