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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: 15-48244876-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=48244876&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 48244876,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000338.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Cys475Tyr",
"transcript": "NM_000338.3",
"protein_id": "NP_000329.2",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1424,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380993.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000338.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Cys475Tyr",
"transcript": "ENST00000380993.8",
"protein_id": "ENSP00000370381.3",
"transcript_support_level": 5,
"aa_start": 475,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1424,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000338.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380993.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "n.5547G>A",
"hgvs_p": null,
"transcript": "ENST00000558252.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000558252.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "n.5563G>A",
"hgvs_p": null,
"transcript": "ENST00000560692.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000560692.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1562G>A",
"hgvs_p": "p.Cys521Tyr",
"transcript": "ENST00000646012.1",
"protein_id": "ENSP00000495813.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 1145,
"cds_start": 1562,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646012.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Cys475Tyr",
"transcript": "NM_001184832.2",
"protein_id": "NP_001171761.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1424,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184832.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Cys475Tyr",
"transcript": "NM_001384136.1",
"protein_id": "NP_001371065.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1424,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384136.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Cys475Tyr",
"transcript": "ENST00000396577.7",
"protein_id": "ENSP00000379822.3",
"transcript_support_level": 5,
"aa_start": 475,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1424,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396577.7"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Cys475Tyr",
"transcript": "ENST00000647232.1",
"protein_id": "ENSP00000493875.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1424,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647232.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Cys475Tyr",
"transcript": "ENST00000647546.1",
"protein_id": "ENSP00000495332.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1424,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647546.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Cys475Tyr",
"transcript": "ENST00000686073.1",
"protein_id": "ENSP00000508901.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1424,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686073.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Cys288Tyr",
"transcript": "ENST00000559641.5",
"protein_id": "ENSP00000453230.1",
"transcript_support_level": 2,
"aa_start": 288,
"aa_end": null,
"aa_length": 647,
"cds_start": 863,
"cds_end": null,
"cds_length": 1946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559641.5"
}
],
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"dbsnp": "rs1555466999",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9859440326690674,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.915,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.993,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000338.3",
"gene_symbol": "SLC12A1",
"hgnc_id": 10910,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Cys475Tyr"
}
],
"clinvar_disease": "Bartter disease type 1,Nephrocalcinosis,Nephrolithiasis",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "Nephrocalcinosis;Nephrolithiasis|Bartter disease type 1",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}