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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: 11-62834479-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62834479&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62834479,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001369447.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Thr223Ala",
"transcript": "NM_001369450.1",
"protein_id": "NP_001356379.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 385,
"cds_start": 667,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278856.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369450.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Thr223Ala",
"transcript": "ENST00000278856.9",
"protein_id": "ENSP00000278856.4",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 385,
"cds_start": 667,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001369450.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278856.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Thr223Ala",
"transcript": "ENST00000311713.11",
"protein_id": "ENSP00000308931.7",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 366,
"cds_start": 667,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311713.11"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "NM_001369447.1",
"protein_id": "NP_001356376.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 399,
"cds_start": 709,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369447.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "ENST00000892916.1",
"protein_id": "ENSP00000562975.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 399,
"cds_start": 709,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892916.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "ENST00000934981.1",
"protein_id": "ENSP00000605040.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 399,
"cds_start": 709,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934981.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "ENST00000957922.1",
"protein_id": "ENSP00000627981.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 399,
"cds_start": 709,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957922.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Thr223Ala",
"transcript": "NM_001369451.1",
"protein_id": "NP_001356380.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 385,
"cds_start": 667,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369451.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Thr223Ala",
"transcript": "NM_001369453.1",
"protein_id": "NP_001356382.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 385,
"cds_start": 667,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369453.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Thr223Ala",
"transcript": "NM_018093.3",
"protein_id": "NP_060563.2",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 385,
"cds_start": 667,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018093.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Thr223Ala",
"transcript": "ENST00000525239.5",
"protein_id": "ENSP00000432119.1",
"transcript_support_level": 2,
"aa_start": 223,
"aa_end": null,
"aa_length": 385,
"cds_start": 667,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525239.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Thr223Ala",
"transcript": "ENST00000529106.5",
"protein_id": "ENSP00000435726.1",
"transcript_support_level": 2,
"aa_start": 223,
"aa_end": null,
"aa_length": 385,
"cds_start": 667,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529106.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Thr223Ala",
"transcript": "NM_001307977.1",
"protein_id": "NP_001294906.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 366,
"cds_start": 667,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001307977.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "ENST00000525752.5",
"protein_id": "ENSP00000432113.1",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 328,
"cds_start": 496,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525752.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "c.262A>G",
"hgvs_p": "p.Thr88Ala",
"transcript": "NM_001369448.1",
"protein_id": "NP_001356377.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 250,
"cds_start": 262,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369448.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "c.262A>G",
"hgvs_p": "p.Thr88Ala",
"transcript": "NM_001369449.1",
"protein_id": "NP_001356378.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 250,
"cds_start": 262,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369449.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "n.735A>G",
"hgvs_p": null,
"transcript": "ENST00000541930.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000541930.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "n.757A>G",
"hgvs_p": null,
"transcript": "ENST00000542347.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000542347.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "n.109A>G",
"hgvs_p": null,
"transcript": "ENST00000543688.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000543688.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "n.329A>G",
"hgvs_p": null,
"transcript": "ENST00000544831.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000544831.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"hgvs_c": "n.687A>G",
"hgvs_p": null,
"transcript": "NR_161381.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_161381.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STX5-DT",
"gene_hgnc_id": 55488,
"hgvs_c": "n.74+2162T>C",
"hgvs_p": null,
"transcript": "ENST00000741088.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000741088.1"
}
],
"gene_symbol": "WDR74",
"gene_hgnc_id": 25529,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04851722717285156,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.0528,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.125,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001369447.1",
"gene_symbol": "WDR74",
"hgnc_id": 25529,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000741088.1",
"gene_symbol": "STX5-DT",
"hgnc_id": 55488,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.74+2162T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}