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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: 14-24316578-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24316578&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24316578,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000345363.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTB4R",
"gene_hgnc_id": 6713,
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Gly309Gly",
"transcript": "NM_001143919.3",
"protein_id": "NP_001137391.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 352,
"cds_start": 927,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": "ENST00000345363.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTB4R",
"gene_hgnc_id": 6713,
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Gly309Gly",
"transcript": "ENST00000345363.8",
"protein_id": "ENSP00000307445.3",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 352,
"cds_start": 927,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": "NM_001143919.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTB4R",
"gene_hgnc_id": 6713,
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Gly309Gly",
"transcript": "ENST00000396782.2",
"protein_id": "ENSP00000380002.2",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 352,
"cds_start": 927,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 1627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTB4R",
"gene_hgnc_id": 6713,
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Gly309Gly",
"transcript": "ENST00000396789.4",
"protein_id": "ENSP00000380008.4",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 352,
"cds_start": 927,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 2652,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTB4R",
"gene_hgnc_id": 6713,
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Gly309Gly",
"transcript": "NM_181657.3",
"protein_id": "NP_858043.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 352,
"cds_start": 927,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 2856,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTB4R",
"gene_hgnc_id": 6713,
"hgvs_c": "c.627C>T",
"hgvs_p": "p.Gly209Gly",
"transcript": "ENST00000556141.1",
"protein_id": "ENSP00000451929.1",
"transcript_support_level": 3,
"aa_start": 209,
"aa_end": null,
"aa_length": 231,
"cds_start": 627,
"cds_end": null,
"cds_length": 696,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LTB4R",
"gene_hgnc_id": 6713,
"dbsnp": "rs1046584",
"frequency_reference_population": 0.13694,
"hom_count_reference_population": 18843,
"allele_count_reference_population": 197571,
"gnomad_exomes_af": 0.137339,
"gnomad_genomes_af": 0.133555,
"gnomad_exomes_ac": 177265,
"gnomad_genomes_ac": 20306,
"gnomad_exomes_homalt": 16932,
"gnomad_genomes_homalt": 1911,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"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": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.383,
"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": "ENST00000345363.8",
"gene_symbol": "LTB4R",
"hgnc_id": 6713,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Gly309Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}