← 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: 10-48731505-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=48731505&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 48731505,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000325239.12",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Leu509Phe",
"transcript": "NM_001394531.1",
"protein_id": "NP_001381460.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 3184,
"cds_start": 1525,
"cds_end": null,
"cds_length": 9555,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 10082,
"mane_select": "ENST00000325239.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Leu509Phe",
"transcript": "ENST00000325239.12",
"protein_id": "ENSP00000320563.5",
"transcript_support_level": 5,
"aa_start": 509,
"aa_end": null,
"aa_length": 3184,
"cds_start": 1525,
"cds_end": null,
"cds_length": 9555,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 10082,
"mane_select": "NM_001394531.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Leu509Phe",
"transcript": "ENST00000360890.6",
"protein_id": "ENSP00000354141.2",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 654,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Leu509Phe",
"transcript": "NM_020945.2",
"protein_id": "NP_065996.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 3184,
"cds_start": 1525,
"cds_end": null,
"cds_length": 9555,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 10023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Leu509Phe",
"transcript": "NM_001370153.1",
"protein_id": "NP_001357082.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 1614,
"cds_start": 1525,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 5637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Leu509Phe",
"transcript": "NM_001370154.1",
"protein_id": "NP_001357083.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 654,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Leu509Phe",
"transcript": "XM_011539986.4",
"protein_id": "XP_011538288.3",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 3184,
"cds_start": 1525,
"cds_end": null,
"cds_length": 9555,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 10042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Leu509Phe",
"transcript": "XM_011539988.3",
"protein_id": "XP_011538290.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 3184,
"cds_start": 1525,
"cds_end": null,
"cds_length": 9555,
"cdna_start": 1755,
"cdna_end": null,
"cdna_length": 10166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Leu509Phe",
"transcript": "XM_017016463.2",
"protein_id": "XP_016871952.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 3184,
"cds_start": 1525,
"cds_end": null,
"cds_length": 9555,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 10126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Leu509Phe",
"transcript": "XM_047425565.1",
"protein_id": "XP_047281521.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 3184,
"cds_start": 1525,
"cds_end": null,
"cds_length": 9555,
"cdna_start": 1696,
"cdna_end": null,
"cdna_length": 10107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Leu509Phe",
"transcript": "XM_011539987.3",
"protein_id": "XP_011538289.3",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 3177,
"cds_start": 1525,
"cds_end": null,
"cds_length": 9534,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 10021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Leu509Phe",
"transcript": "XM_011539990.4",
"protein_id": "XP_011538292.2",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 2395,
"cds_start": 1525,
"cds_end": null,
"cds_length": 7188,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 8274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Leu509Phe",
"transcript": "XM_011539991.4",
"protein_id": "XP_011538293.2",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 2005,
"cds_start": 1525,
"cds_end": null,
"cds_length": 6018,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 9661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Leu509Phe",
"transcript": "XM_011539992.3",
"protein_id": "XP_011538294.2",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 1614,
"cds_start": 1525,
"cds_end": null,
"cds_length": 4845,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 5597,
"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": 54,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"hgvs_c": "c.-57+118C>T",
"hgvs_p": null,
"transcript": "XM_047425566.1",
"protein_id": "XP_047281522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2638,
"cds_start": -4,
"cds_end": null,
"cds_length": 7917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WDFY4",
"gene_hgnc_id": 29323,
"dbsnp": "rs1314406426",
"frequency_reference_population": 0.000005801212,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000571751,
"gnomad_genomes_af": 0.00000657073,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3137187957763672,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.2,
"revel_prediction": "Benign",
"alphamissense_score": 0.1474,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.344,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000325239.12",
"gene_symbol": "WDFY4",
"hgnc_id": 29323,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Leu509Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}