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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: 11-2418312-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2418312&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 2418312,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000696290.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"hgvs_c": "c.761T>C",
"hgvs_p": "p.Val254Ala",
"transcript": "NM_014555.4",
"protein_id": "NP_055370.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 1165,
"cds_start": 761,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 5689,
"mane_select": "ENST00000696290.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"hgvs_c": "c.761T>C",
"hgvs_p": "p.Val254Ala",
"transcript": "ENST00000696290.1",
"protein_id": "ENSP00000512529.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 1165,
"cds_start": 761,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 5689,
"mane_select": "NM_014555.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"hgvs_c": "c.761T>C",
"hgvs_p": "p.Val254Ala",
"transcript": "ENST00000533060.5",
"protein_id": "ENSP00000434121.1",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 1173,
"cds_start": 761,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"hgvs_c": "c.761T>C",
"hgvs_p": "p.Val254Ala",
"transcript": "ENST00000528453.1",
"protein_id": "ENSP00000436809.1",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 1166,
"cds_start": 761,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"hgvs_c": "c.743T>C",
"hgvs_p": "p.Val248Ala",
"transcript": "ENST00000533881.5",
"protein_id": "ENSP00000434383.1",
"transcript_support_level": 1,
"aa_start": 248,
"aa_end": null,
"aa_length": 1159,
"cds_start": 743,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 3902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Val272Ala",
"transcript": "XM_017017628.2",
"protein_id": "XP_016873117.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 1186,
"cds_start": 815,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 4373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Val272Ala",
"transcript": "XM_047426858.1",
"protein_id": "XP_047282814.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 1184,
"cds_start": 815,
"cds_end": null,
"cds_length": 3555,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 4688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRPM5",
"gene_hgnc_id": 14323,
"dbsnp": "rs3986599",
"frequency_reference_population": 0.68839806,
"hom_count_reference_population": 376855,
"allele_count_reference_population": 1079857,
"gnomad_exomes_af": 0.680722,
"gnomad_genomes_af": 0.760023,
"gnomad_exomes_ac": 964449,
"gnomad_genomes_ac": 115408,
"gnomad_exomes_homalt": 331857,
"gnomad_genomes_homalt": 44998,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00000219780099541822,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.12,
"revel_prediction": "Benign",
"alphamissense_score": 0.0411,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.929,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000696290.1",
"gene_symbol": "TRPM5",
"hgnc_id": 14323,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.761T>C",
"hgvs_p": "p.Val254Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}