← 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: 15-48251770-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=48251770&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 48251770,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000380993.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Asp648Asn",
"transcript": "NM_000338.3",
"protein_id": "NP_000329.2",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1942,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": "ENST00000380993.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Asp648Asn",
"transcript": "ENST00000380993.8",
"protein_id": "ENSP00000370381.3",
"transcript_support_level": 5,
"aa_start": 648,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1942,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": "NM_000338.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "n.6065G>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": -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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "n.6081G>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": -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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.2080G>A",
"hgvs_p": "p.Asp694Asn",
"transcript": "ENST00000646012.1",
"protein_id": "ENSP00000495813.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 1145,
"cds_start": 2080,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 2472,
"cdna_end": null,
"cdna_length": 4663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Asp648Asn",
"transcript": "NM_001184832.2",
"protein_id": "NP_001171761.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1942,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Asp648Asn",
"transcript": "NM_001384136.1",
"protein_id": "NP_001371065.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1942,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Asp648Asn",
"transcript": "ENST00000396577.7",
"protein_id": "ENSP00000379822.3",
"transcript_support_level": 5,
"aa_start": 648,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1942,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Asp648Asn",
"transcript": "ENST00000647232.1",
"protein_id": "ENSP00000493875.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1942,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2451,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Asp648Asn",
"transcript": "ENST00000647546.1",
"protein_id": "ENSP00000495332.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1942,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 4851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Asp648Asn",
"transcript": "ENST00000686073.1",
"protein_id": "ENSP00000508901.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1942,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Asp461Asn",
"transcript": "ENST00000559641.5",
"protein_id": "ENSP00000453230.1",
"transcript_support_level": 2,
"aa_start": 461,
"aa_end": null,
"aa_length": 647,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1946,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC12A1",
"gene_hgnc_id": 10910,
"dbsnp": "rs137853157",
"frequency_reference_population": 0.0000018594619,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136872,
"gnomad_genomes_af": 0.00000657255,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8738365173339844,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9879999756813049,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.623,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.091,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.119,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.63,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999961433315347,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000380993.8",
"gene_symbol": "SLC12A1",
"hgnc_id": 10910,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Asp648Asn"
}
],
"clinvar_disease": "Bartter disease type 1,Bartter syndrome,Familial hypokalemia-hypomagnesemia,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Bartter disease type 1|Familial hypokalemia-hypomagnesemia;Bartter syndrome|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}