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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: 15-48234925-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=48234925&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 48234925,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000380993.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1137delC",
"hgvs_p": "p.Phe380fs",
"transcript": "NM_000338.3",
"protein_id": "NP_000329.2",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1137,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": "ENST00000380993.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1137delC",
"hgvs_p": "p.Phe380fs",
"transcript": "ENST00000380993.8",
"protein_id": "ENSP00000370381.3",
"transcript_support_level": 5,
"aa_start": 379,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1137,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": "NM_000338.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1137delC",
"hgvs_p": "p.Phe380fs",
"transcript": "ENST00000330289.10",
"protein_id": "ENSP00000331550.6",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 430,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 1764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "n.5260delC",
"hgvs_p": null,
"transcript": "ENST00000558252.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "n.5276delC",
"hgvs_p": null,
"transcript": "ENST00000560692.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1275delC",
"hgvs_p": "p.Phe426fs",
"transcript": "ENST00000646012.1",
"protein_id": "ENSP00000495813.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1145,
"cds_start": 1275,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1137delC",
"hgvs_p": "p.Phe380fs",
"transcript": "NM_001184832.2",
"protein_id": "NP_001171761.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1137,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1137delC",
"hgvs_p": "p.Phe380fs",
"transcript": "NM_001384136.1",
"protein_id": "NP_001371065.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1137,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1137delC",
"hgvs_p": "p.Phe380fs",
"transcript": "ENST00000396577.7",
"protein_id": "ENSP00000379822.3",
"transcript_support_level": 5,
"aa_start": 379,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1137,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1137delC",
"hgvs_p": "p.Phe380fs",
"transcript": "ENST00000647232.1",
"protein_id": "ENSP00000493875.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1137,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1137delC",
"hgvs_p": "p.Phe380fs",
"transcript": "ENST00000647546.1",
"protein_id": "ENSP00000495332.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1137,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 4851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1137delC",
"hgvs_p": "p.Phe380fs",
"transcript": "ENST00000686073.1",
"protein_id": "ENSP00000508901.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1137,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.576delC",
"hgvs_p": "p.Phe193fs",
"transcript": "ENST00000559641.5",
"protein_id": "ENSP00000453230.1",
"transcript_support_level": 2,
"aa_start": 192,
"aa_end": null,
"aa_length": 647,
"cds_start": 576,
"cds_end": null,
"cds_length": 1946,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "n.164delC",
"hgvs_p": null,
"transcript": "ENST00000558805.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "n.*1delC",
"hgvs_p": null,
"transcript": "ENST00000559723.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"dbsnp": "rs1057520300",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.906,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000380993.8",
"gene_symbol": "SLC12A1",
"hgnc_id": 10910,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1137delC",
"hgvs_p": "p.Phe380fs"
}
],
"clinvar_disease": "Bartter disease type 1",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Bartter disease type 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}