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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: 5-102247393-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=102247393&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 102247393,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_180991.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4C1",
"gene_hgnc_id": 23612,
"hgvs_c": "c.1670C>A",
"hgvs_p": "p.Thr557Asn",
"transcript": "NM_180991.5",
"protein_id": "NP_851322.3",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 724,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": "ENST00000310954.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4C1",
"gene_hgnc_id": 23612,
"hgvs_c": "c.1670C>A",
"hgvs_p": "p.Thr557Asn",
"transcript": "ENST00000310954.7",
"protein_id": "ENSP00000309741.6",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 724,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": "NM_180991.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4C1",
"gene_hgnc_id": 23612,
"hgvs_c": "c.1406C>A",
"hgvs_p": "p.Thr469Asn",
"transcript": "XM_011543370.3",
"protein_id": "XP_011541672.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 636,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4C1",
"gene_hgnc_id": 23612,
"hgvs_c": "c.1256C>A",
"hgvs_p": "p.Thr419Asn",
"transcript": "XM_011543372.2",
"protein_id": "XP_011541674.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 586,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 5269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLCO4C1",
"gene_hgnc_id": 23612,
"hgvs_c": "c.1256C>A",
"hgvs_p": "p.Thr419Asn",
"transcript": "XM_047417146.1",
"protein_id": "XP_047273102.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 586,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 5206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLCO4C1",
"gene_hgnc_id": 23612,
"dbsnp": "rs1404559111",
"frequency_reference_population": 0.000002776748,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000277675,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07095962762832642,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.141,
"revel_prediction": "Benign",
"alphamissense_score": 0.0751,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.515,
"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": 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.1670C>A",
"hgvs_p": "p.Thr557Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}