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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: 4-6302165-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=6302165&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 6302165,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000226760.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.2370G>A",
"hgvs_p": "p.Ser790Ser",
"transcript": "NM_006005.3",
"protein_id": "NP_005996.2",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 890,
"cds_start": 2370,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": "ENST00000226760.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.2370G>A",
"hgvs_p": "p.Ser790Ser",
"transcript": "ENST00000226760.5",
"protein_id": "ENSP00000226760.1",
"transcript_support_level": 1,
"aa_start": 790,
"aa_end": null,
"aa_length": 890,
"cds_start": 2370,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": "NM_006005.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.2370G>A",
"hgvs_p": "p.Ser790Ser",
"transcript": "ENST00000503569.5",
"protein_id": "ENSP00000423337.1",
"transcript_support_level": 1,
"aa_start": 790,
"aa_end": null,
"aa_length": 890,
"cds_start": 2370,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.2406G>A",
"hgvs_p": "p.Ser802Ser",
"transcript": "ENST00000673991.1",
"protein_id": "ENSP00000501033.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 902,
"cds_start": 2406,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2573,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.2406G>A",
"hgvs_p": "p.Ser802Ser",
"transcript": "ENST00000682275.1",
"protein_id": "ENSP00000507852.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 902,
"cds_start": 2406,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2576,
"cdna_end": null,
"cdna_length": 3662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.2370G>A",
"hgvs_p": "p.Ser790Ser",
"transcript": "NM_001145853.1",
"protein_id": "NP_001139325.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 890,
"cds_start": 2370,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2536,
"cdna_end": null,
"cdna_length": 3636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.2370G>A",
"hgvs_p": "p.Ser790Ser",
"transcript": "ENST00000684087.1",
"protein_id": "ENSP00000506978.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 890,
"cds_start": 2370,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 2517,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.2121G>A",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000506362.2",
"protein_id": "ENSP00000424103.2",
"transcript_support_level": 3,
"aa_start": 707,
"aa_end": null,
"aa_length": 807,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 2882,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "n.2555G>A",
"hgvs_p": null,
"transcript": "ENST00000507765.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3655,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.*1511G>A",
"hgvs_p": null,
"transcript": "ENST00000683395.1",
"protein_id": "ENSP00000507124.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286176",
"gene_hgnc_id": 58722,
"hgvs_c": "n.1337+1750C>T",
"hgvs_p": null,
"transcript": "ENST00000661896.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286176",
"gene_hgnc_id": 58722,
"hgvs_c": "n.1496+1697C>T",
"hgvs_p": null,
"transcript": "ENST00000665800.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.*745G>A",
"hgvs_p": null,
"transcript": "ENST00000673642.1",
"protein_id": "ENSP00000501242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 427,
"cds_start": -4,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"dbsnp": "rs150936382",
"frequency_reference_population": 0.00076996,
"hom_count_reference_population": 10,
"allele_count_reference_population": 1241,
"gnomad_exomes_af": 0.000476209,
"gnomad_genomes_af": 0.00358437,
"gnomad_exomes_ac": 695,
"gnomad_genomes_ac": 546,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.213,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000226760.5",
"gene_symbol": "WFS1",
"hgnc_id": 12762,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.2370G>A",
"hgvs_p": "p.Ser790Ser"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000661896.1",
"gene_symbol": "ENSG00000286176",
"hgnc_id": 58722,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1337+1750C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 6,WFS1-Related Spectrum Disorders,Wolfram syndrome 1,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:7",
"phenotype_combined": "Autosomal dominant nonsyndromic hearing loss 6|WFS1-Related Spectrum Disorders|not specified|not provided|Wolfram syndrome 1",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}