← Back to variant description
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: 16-56893003-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56893003&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56893003,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000563236.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2470T>C",
"hgvs_p": "p.Ser824Pro",
"transcript": "NM_001126108.2",
"protein_id": "NP_001119580.2",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2470,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 5540,
"mane_select": "ENST00000563236.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2470T>C",
"hgvs_p": "p.Ser824Pro",
"transcript": "ENST00000563236.6",
"protein_id": "ENSP00000456149.2",
"transcript_support_level": 1,
"aa_start": 824,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2470,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 5540,
"mane_select": "NM_001126108.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2497T>C",
"hgvs_p": "p.Ser833Pro",
"transcript": "ENST00000438926.6",
"protein_id": "ENSP00000402152.2",
"transcript_support_level": 1,
"aa_start": 833,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2497,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 2526,
"cdna_end": null,
"cdna_length": 5567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2494T>C",
"hgvs_p": "p.Ser832Pro",
"transcript": "ENST00000566786.5",
"protein_id": "ENSP00000457552.1",
"transcript_support_level": 1,
"aa_start": 832,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2494,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 2523,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2497T>C",
"hgvs_p": "p.Ser833Pro",
"transcript": "NM_000339.3",
"protein_id": "NP_000330.3",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2497,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 2526,
"cdna_end": null,
"cdna_length": 5567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2494T>C",
"hgvs_p": "p.Ser832Pro",
"transcript": "NM_001126107.2",
"protein_id": "NP_001119579.2",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2494,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 2523,
"cdna_end": null,
"cdna_length": 5564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2467T>C",
"hgvs_p": "p.Ser823Pro",
"transcript": "NM_001410896.1",
"protein_id": "NP_001397825.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2467,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 2496,
"cdna_end": null,
"cdna_length": 5537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"hgvs_c": "c.2467T>C",
"hgvs_p": "p.Ser823Pro",
"transcript": "ENST00000262502.5",
"protein_id": "ENSP00000262502.5",
"transcript_support_level": 5,
"aa_start": 823,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2467,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 2492,
"cdna_end": null,
"cdna_length": 4208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC12A3",
"gene_hgnc_id": 10912,
"dbsnp": "rs146845953",
"frequency_reference_population": 0.000008673575,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000820874,
"gnomad_genomes_af": 0.000013137,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2973652780056,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.177,
"revel_prediction": "Benign",
"alphamissense_score": 0.4522,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.179,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000563236.6",
"gene_symbol": "SLC12A3",
"hgnc_id": 10912,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2470T>C",
"hgvs_p": "p.Ser824Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}