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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: 2-230010743-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=230010743&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 230010743,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_174899.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO36",
"gene_hgnc_id": 27020,
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Cys142Cys",
"transcript": "NM_174899.5",
"protein_id": "NP_777559.3",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 188,
"cds_start": 426,
"cds_end": null,
"cds_length": 567,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": "ENST00000283946.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO36",
"gene_hgnc_id": 27020,
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Cys142Cys",
"transcript": "ENST00000283946.8",
"protein_id": "ENSP00000283946.3",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 188,
"cds_start": 426,
"cds_end": null,
"cds_length": 567,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": "NM_174899.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO36",
"gene_hgnc_id": 27020,
"hgvs_c": "c.333C>T",
"hgvs_p": "p.Cys111Cys",
"transcript": "ENST00000373652.7",
"protein_id": "ENSP00000362756.3",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 157,
"cds_start": 333,
"cds_end": null,
"cds_length": 474,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO36",
"gene_hgnc_id": 27020,
"hgvs_c": "c.366C>T",
"hgvs_p": "p.Cys122Cys",
"transcript": "ENST00000409992.1",
"protein_id": "ENSP00000386673.1",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 168,
"cds_start": 366,
"cds_end": null,
"cds_length": 507,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO36",
"gene_hgnc_id": 27020,
"hgvs_c": "c.351C>T",
"hgvs_p": "p.Cys117Cys",
"transcript": "XM_005246317.3",
"protein_id": "XP_005246374.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 163,
"cds_start": 351,
"cds_end": null,
"cds_length": 492,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FBXO36",
"gene_hgnc_id": 27020,
"dbsnp": "rs149438648",
"frequency_reference_population": 0.000024170547,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000225821,
"gnomad_genomes_af": 0.0000394213,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"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": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.493,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_174899.5",
"gene_symbol": "FBXO36",
"hgnc_id": 27020,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Cys142Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}