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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: 5-102236865-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=102236865&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 102236865,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_180991.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4C1",
"gene_hgnc_id": 23612,
"hgvs_c": "c.2168A>G",
"hgvs_p": "p.Glu723Gly",
"transcript": "NM_180991.5",
"protein_id": "NP_851322.3",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 724,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": "ENST00000310954.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4C1",
"gene_hgnc_id": 23612,
"hgvs_c": "c.2168A>G",
"hgvs_p": "p.Glu723Gly",
"transcript": "ENST00000310954.7",
"protein_id": "ENSP00000309741.6",
"transcript_support_level": 1,
"aa_start": 723,
"aa_end": null,
"aa_length": 724,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": "NM_180991.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4C1",
"gene_hgnc_id": 23612,
"hgvs_c": "c.1904A>G",
"hgvs_p": "p.Glu635Gly",
"transcript": "XM_011543370.3",
"protein_id": "XP_011541672.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 636,
"cds_start": 1904,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1926,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4C1",
"gene_hgnc_id": 23612,
"hgvs_c": "c.1754A>G",
"hgvs_p": "p.Glu585Gly",
"transcript": "XM_011543372.2",
"protein_id": "XP_011541674.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 586,
"cds_start": 1754,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 2390,
"cdna_end": null,
"cdna_length": 5269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4C1",
"gene_hgnc_id": 23612,
"hgvs_c": "c.1754A>G",
"hgvs_p": "p.Glu585Gly",
"transcript": "XM_047417146.1",
"protein_id": "XP_047273102.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 586,
"cds_start": 1754,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 5206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLCO4C1",
"gene_hgnc_id": 23612,
"dbsnp": "rs377123604",
"frequency_reference_population": 6.853202e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8532e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14756456017494202,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.074,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.954,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_180991.5",
"gene_symbol": "SLCO4C1",
"hgnc_id": 23612,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2168A>G",
"hgvs_p": "p.Glu723Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}