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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: 19-36104532-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36104532&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "WDR62",
"hgnc_id": 24502,
"hgvs_c": "c.4168T>C",
"hgvs_p": "p.Leu1390Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001083961.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.94,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9399999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1523,
"aa_ref": "L",
"aa_start": 1390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4727,
"cdna_start": 4243,
"cds_end": null,
"cds_length": 4572,
"cds_start": 4168,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001083961.2",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4168T>C",
"hgvs_p": "p.Leu1390Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000401500.7",
"protein_coding": true,
"protein_id": "NP_001077430.1",
"strand": true,
"transcript": "NM_001083961.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1523,
"aa_ref": "L",
"aa_start": 1390,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4727,
"cdna_start": 4243,
"cds_end": null,
"cds_length": 4572,
"cds_start": 4168,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000401500.7",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4168T>C",
"hgvs_p": "p.Leu1390Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001083961.2",
"protein_coding": true,
"protein_id": "ENSP00000384792.1",
"strand": true,
"transcript": "ENST00000401500.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5973,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000587391.6",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*4028T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465525.1",
"strand": true,
"transcript": "ENST00000587391.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5973,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000587391.6",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*4028T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465525.1",
"strand": true,
"transcript": "ENST00000587391.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1521,
"aa_ref": "L",
"aa_start": 1388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4708,
"cdna_start": 4237,
"cds_end": null,
"cds_length": 4566,
"cds_start": 4162,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000679714.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4162T>C",
"hgvs_p": "p.Leu1388Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506627.1",
"strand": true,
"transcript": "ENST00000679714.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "L",
"aa_start": 1385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4712,
"cdna_start": 4228,
"cds_end": null,
"cds_length": 4557,
"cds_start": 4153,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001411145.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4153T>C",
"hgvs_p": "p.Leu1385Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398074.1",
"strand": true,
"transcript": "NM_001411145.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "L",
"aa_start": 1385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4712,
"cdna_start": 4228,
"cds_end": null,
"cds_length": 4557,
"cds_start": 4153,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_173636.5",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4153T>C",
"hgvs_p": "p.Leu1385Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775907.4",
"strand": true,
"transcript": "NM_173636.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "L",
"aa_start": 1385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4634,
"cdna_start": 4153,
"cds_end": null,
"cds_length": 4557,
"cds_start": 4153,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000270301.12",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4153T>C",
"hgvs_p": "p.Leu1385Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000270301.6",
"strand": true,
"transcript": "ENST00000270301.12",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "L",
"aa_start": 1385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4702,
"cdna_start": 4228,
"cds_end": null,
"cds_length": 4557,
"cds_start": 4153,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000679682.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4153T>C",
"hgvs_p": "p.Leu1385Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506226.1",
"strand": true,
"transcript": "ENST00000679682.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1440,
"aa_ref": "L",
"aa_start": 1307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4478,
"cdna_start": 3994,
"cds_end": null,
"cds_length": 4323,
"cds_start": 3919,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001411146.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3919T>C",
"hgvs_p": "p.Leu1307Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398075.1",
"strand": true,
"transcript": "NM_001411146.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1440,
"aa_ref": "L",
"aa_start": 1307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4478,
"cdna_start": 3994,
"cds_end": null,
"cds_length": 4323,
"cds_start": 3919,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000680564.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3919T>C",
"hgvs_p": "p.Leu1307Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505582.1",
"strand": true,
"transcript": "ENST00000680564.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1434,
"aa_ref": "L",
"aa_start": 1385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 4228,
"cds_end": null,
"cds_length": 4305,
"cds_start": 4153,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000680403.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4153T>C",
"hgvs_p": "p.Leu1385Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505677.1",
"strand": true,
"transcript": "ENST00000680403.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1406,
"aa_ref": "L",
"aa_start": 1273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4376,
"cdna_start": 3892,
"cds_end": null,
"cds_length": 4221,
"cds_start": 3817,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001411147.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3817T>C",
"hgvs_p": "p.Leu1273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398076.1",
"strand": true,
"transcript": "NM_001411147.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1406,
"aa_ref": "L",
"aa_start": 1273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4339,
"cdna_start": 3859,
"cds_end": null,
"cds_length": 4221,
"cds_start": 3817,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000679757.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3817T>C",
"hgvs_p": "p.Leu1273Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505158.1",
"strand": true,
"transcript": "ENST00000679757.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 390,
"aa_ref": "L",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 1173,
"cds_start": 769,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000680211.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.769T>C",
"hgvs_p": "p.Leu257Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506102.1",
"strand": true,
"transcript": "ENST00000680211.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1523,
"aa_ref": "L",
"aa_start": 1390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4709,
"cdna_start": 4243,
"cds_end": null,
"cds_length": 4572,
"cds_start": 4168,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_017026665.2",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4168T>C",
"hgvs_p": "p.Leu1390Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882154.1",
"strand": true,
"transcript": "XM_017026665.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1513,
"aa_ref": "L",
"aa_start": 1380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4697,
"cdna_start": 4213,
"cds_end": null,
"cds_length": 4542,
"cds_start": 4138,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_047438657.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4138T>C",
"hgvs_p": "p.Leu1380Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294613.1",
"strand": true,
"transcript": "XM_047438657.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1486,
"aa_ref": "L",
"aa_start": 1353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 4132,
"cds_end": null,
"cds_length": 4461,
"cds_start": 4057,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_005258809.3",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4057T>C",
"hgvs_p": "p.Leu1353Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258866.1",
"strand": true,
"transcript": "XM_005258809.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1481,
"aa_ref": "L",
"aa_start": 1348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4601,
"cdna_start": 4117,
"cds_end": null,
"cds_length": 4446,
"cds_start": 4042,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_047438658.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4042T>C",
"hgvs_p": "p.Leu1348Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294614.1",
"strand": true,
"transcript": "XM_047438658.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1481,
"aa_ref": "L",
"aa_start": 1348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4601,
"cdna_start": 4117,
"cds_end": null,
"cds_length": 4446,
"cds_start": 4042,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_047438659.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.4042T>C",
"hgvs_p": "p.Leu1348Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294615.1",
"strand": true,
"transcript": "XM_047438659.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1476,
"aa_ref": "L",
"aa_start": 1343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4586,
"cdna_start": 4102,
"cds_end": null,
"cds_length": 4431,
"cds_start": 4027,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 30,
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