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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: 4-6289013-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=6289013&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 6289013,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000226760.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.342C>T",
"hgvs_p": "p.Ala114Ala",
"transcript": "NM_006005.3",
"protein_id": "NP_005996.2",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 890,
"cds_start": 342,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": "ENST00000226760.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.342C>T",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000226760.5",
"protein_id": "ENSP00000226760.1",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 890,
"cds_start": 342,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": "NM_006005.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.342C>T",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000503569.5",
"protein_id": "ENSP00000423337.1",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 890,
"cds_start": 342,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.342C>T",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000673991.1",
"protein_id": "ENSP00000501033.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 902,
"cds_start": 342,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.342C>T",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000682275.1",
"protein_id": "ENSP00000507852.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 902,
"cds_start": 342,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 3662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.342C>T",
"hgvs_p": "p.Ala114Ala",
"transcript": "NM_001145853.1",
"protein_id": "NP_001139325.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 890,
"cds_start": 342,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 3636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.342C>T",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000684087.1",
"protein_id": "ENSP00000506978.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 890,
"cds_start": 342,
"cds_end": null,
"cds_length": 2673,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.93C>T",
"hgvs_p": "p.Ala31Ala",
"transcript": "ENST00000506362.2",
"protein_id": "ENSP00000424103.2",
"transcript_support_level": 3,
"aa_start": 31,
"aa_end": null,
"aa_length": 807,
"cds_start": 93,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.141C>T",
"hgvs_p": "p.Ala47Ala",
"transcript": "ENST00000673642.1",
"protein_id": "ENSP00000501242.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 427,
"cds_start": 141,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.330C>T",
"hgvs_p": "p.Ala110Ala",
"transcript": "ENST00000683395.1",
"protein_id": "ENSP00000507124.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 277,
"cds_start": 330,
"cds_end": null,
"cds_length": 834,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.342C>T",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000684700.1",
"protein_id": "ENSP00000507806.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 234,
"cds_start": 342,
"cds_end": null,
"cds_length": 705,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.342C>T",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000684054.1",
"protein_id": "ENSP00000507120.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 157,
"cds_start": 342,
"cds_end": null,
"cds_length": 474,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "c.216C>T",
"hgvs_p": "p.Ala72Ala",
"transcript": "ENST00000674051.1",
"protein_id": "ENSP00000501083.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 147,
"cds_start": 216,
"cds_end": null,
"cds_length": 446,
"cdna_start": 221,
"cdna_end": null,
"cdna_length": 451,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"hgvs_c": "n.527C>T",
"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
}
],
"gene_symbol": "WFS1",
"gene_hgnc_id": 12762,
"dbsnp": "rs201151892",
"frequency_reference_population": 0.00008642591,
"hom_count_reference_population": 0,
"allele_count_reference_population": 139,
"gnomad_exomes_af": 0.0000879094,
"gnomad_genomes_af": 0.0000722401,
"gnomad_exomes_ac": 128,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"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": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.118,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000226760.5",
"gene_symbol": "WFS1",
"hgnc_id": 12762,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.342C>T",
"hgvs_p": "p.Ala114Ala"
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 6,Cataract 41,Type 2 diabetes mellitus,WFS1-related disorder,Wolfram syndrome 1,Wolfram-like syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:3",
"phenotype_combined": "not specified|not provided|Wolfram syndrome 1|Wolfram-like syndrome;Cataract 41;Wolfram syndrome 1;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus|WFS1-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}