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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: 19-989888-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=989888&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 989888,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024100.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Phe",
"transcript": "NM_024100.4",
"protein_id": "NP_077005.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 432,
"cds_start": 448,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000585809.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024100.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Phe",
"transcript": "ENST00000585809.6",
"protein_id": "ENSP00000476117.3",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 432,
"cds_start": 448,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024100.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585809.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Phe",
"transcript": "ENST00000886864.1",
"protein_id": "ENSP00000556923.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 509,
"cds_start": 448,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886864.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Phe",
"transcript": "ENST00000933666.1",
"protein_id": "ENSP00000603725.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 480,
"cds_start": 448,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933666.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Phe",
"transcript": "ENST00000886866.1",
"protein_id": "ENSP00000556925.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 471,
"cds_start": 448,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886866.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Phe",
"transcript": "ENST00000886863.1",
"protein_id": "ENSP00000556922.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 463,
"cds_start": 448,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886863.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Phe",
"transcript": "ENST00000966180.1",
"protein_id": "ENSP00000636239.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 463,
"cds_start": 448,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966180.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Phe",
"transcript": "NM_001372085.1",
"protein_id": "NP_001359014.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 432,
"cds_start": 448,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372085.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Phe",
"transcript": "ENST00000886862.1",
"protein_id": "ENSP00000556921.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 430,
"cds_start": 448,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886862.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Leu148Phe",
"transcript": "ENST00000933665.1",
"protein_id": "ENSP00000603724.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 430,
"cds_start": 442,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933665.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Leu148Phe",
"transcript": "ENST00000251289.9",
"protein_id": "ENSP00000251289.4",
"transcript_support_level": 5,
"aa_start": 148,
"aa_end": null,
"aa_length": 428,
"cds_start": 442,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251289.9"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Phe",
"transcript": "ENST00000587001.6",
"protein_id": "ENSP00000464855.1",
"transcript_support_level": 5,
"aa_start": 150,
"aa_end": null,
"aa_length": 409,
"cds_start": 448,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587001.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Phe",
"transcript": "ENST00000607440.5",
"protein_id": "ENSP00000475744.1",
"transcript_support_level": 5,
"aa_start": 111,
"aa_end": null,
"aa_length": 393,
"cds_start": 331,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000607440.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Phe",
"transcript": "ENST00000966179.1",
"protein_id": "ENSP00000636238.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 390,
"cds_start": 448,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966179.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Pro128Leu",
"transcript": "ENST00000886865.1",
"protein_id": "ENSP00000556924.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 389,
"cds_start": 383,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886865.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Phe",
"transcript": "ENST00000886861.1",
"protein_id": "ENSP00000556920.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 384,
"cds_start": 448,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886861.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Leu73Phe",
"transcript": "NM_001372086.1",
"protein_id": "NP_001359015.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 355,
"cds_start": 217,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372086.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Leu142Phe",
"transcript": "ENST00000591997.2",
"protein_id": "ENSP00000484670.1",
"transcript_support_level": 3,
"aa_start": 142,
"aa_end": null,
"aa_length": 144,
"cds_start": 424,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591997.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "n.461C>T",
"hgvs_p": null,
"transcript": "ENST00000586317.2",
"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": "ENST00000586317.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "n.448C>T",
"hgvs_p": null,
"transcript": "ENST00000590397.5",
"protein_id": "ENSP00000465826.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000590397.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"hgvs_c": "n.442C>T",
"hgvs_p": null,
"transcript": "ENST00000591985.6",
"protein_id": "ENSP00000466551.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000591985.6"
}
],
"gene_symbol": "WDR18",
"gene_hgnc_id": 17956,
"dbsnp": "rs369953265",
"frequency_reference_population": 0.00001678639,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.00000686716,
"gnomad_genomes_af": 0.000111666,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3143014907836914,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.158,
"revel_prediction": "Benign",
"alphamissense_score": 0.2305,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.4,
"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": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_024100.4",
"gene_symbol": "WDR18",
"hgnc_id": 17956,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Phe"
}
],
"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
}