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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: 20-46057528-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=46057528&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 46057528,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000243964.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.3274G>A",
"hgvs_p": "p.Glu1092Lys",
"transcript": "NM_020708.5",
"protein_id": "NP_065759.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1116,
"cds_start": 3274,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 3404,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": "ENST00000243964.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.3274G>A",
"hgvs_p": "p.Glu1092Lys",
"transcript": "ENST00000243964.7",
"protein_id": "ENSP00000243964.4",
"transcript_support_level": 1,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1116,
"cds_start": 3274,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 3404,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": "NM_020708.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.613-953G>A",
"hgvs_p": null,
"transcript": "ENST00000616202.4",
"protein_id": "ENSP00000478369.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": -4,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.510-2071G>A",
"hgvs_p": null,
"transcript": "ENST00000626937.2",
"protein_id": "ENSP00000485953.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": -4,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.3343G>A",
"hgvs_p": "p.Glu1115Lys",
"transcript": "NM_001134771.2",
"protein_id": "NP_001128243.1",
"transcript_support_level": null,
"aa_start": 1115,
"aa_end": null,
"aa_length": 1139,
"cds_start": 3343,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 3423,
"cdna_end": null,
"cdna_length": 6045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.3343G>A",
"hgvs_p": "p.Glu1115Lys",
"transcript": "ENST00000454036.6",
"protein_id": "ENSP00000387694.1",
"transcript_support_level": 5,
"aa_start": 1115,
"aa_end": null,
"aa_length": 1139,
"cds_start": 3343,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 3419,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.*2592G>A",
"hgvs_p": null,
"transcript": "ENST00000616933.4",
"protein_id": "ENSP00000477569.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": -4,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"hgvs_c": "c.70+225G>A",
"hgvs_p": null,
"transcript": "ENST00000637437.1",
"protein_id": "ENSP00000490442.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 23,
"cds_start": -4,
"cds_end": null,
"cds_length": 72,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC12A5",
"gene_hgnc_id": 13818,
"dbsnp": "rs1555868402",
"frequency_reference_population": 6.8407877e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84079e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8674725294113159,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.426,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.961,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.33,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000243964.7",
"gene_symbol": "SLC12A5",
"hgnc_id": 13818,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3274G>A",
"hgvs_p": "p.Glu1092Lys"
}
],
"clinvar_disease": " 34,Developmental and epileptic encephalopathy",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Developmental and epileptic encephalopathy, 34",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}