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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: 19-36103439-GC-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36103439&ref=GC&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "WDR62",
"hgnc_id": 24502,
"hgvs_c": "c.3611_3612delGCinsTA",
"hgvs_p": "p.Gly1204Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001083961.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1523,
"aa_ref": "G",
"aa_start": 1204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4727,
"cdna_start": 3686,
"cds_end": null,
"cds_length": 4572,
"cds_start": 3611,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001083961.2",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3611_3612delGCinsTA",
"hgvs_p": "p.Gly1204Val",
"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": "V",
"aa_end": null,
"aa_length": 1523,
"aa_ref": "G",
"aa_start": 1204,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4727,
"cdna_start": 3686,
"cds_end": null,
"cds_length": 4572,
"cds_start": 3611,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000401500.7",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3611_3612delGCinsTA",
"hgvs_p": "p.Gly1204Val",
"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": 28,
"exon_rank_end": null,
"feature": "ENST00000587391.6",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*3471_*3472delGCinsTA",
"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": 28,
"exon_rank_end": null,
"feature": "ENST00000587391.6",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "n.*3471_*3472delGCinsTA",
"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": "V",
"aa_end": null,
"aa_length": 1521,
"aa_ref": "G",
"aa_start": 1202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4708,
"cdna_start": 3680,
"cds_end": null,
"cds_length": 4566,
"cds_start": 3605,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679714.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3605_3606delGCinsTA",
"hgvs_p": "p.Gly1202Val",
"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": "V",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "G",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4712,
"cdna_start": 3671,
"cds_end": null,
"cds_length": 4557,
"cds_start": 3596,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411145.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3596_3597delGCinsTA",
"hgvs_p": "p.Gly1199Val",
"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": "V",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "G",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4712,
"cdna_start": 3671,
"cds_end": null,
"cds_length": 4557,
"cds_start": 3596,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_173636.5",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3596_3597delGCinsTA",
"hgvs_p": "p.Gly1199Val",
"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": "V",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "G",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4634,
"cdna_start": 3596,
"cds_end": null,
"cds_length": 4557,
"cds_start": 3596,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000270301.12",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3596_3597delGCinsTA",
"hgvs_p": "p.Gly1199Val",
"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": "V",
"aa_end": null,
"aa_length": 1518,
"aa_ref": "G",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4702,
"cdna_start": 3671,
"cds_end": null,
"cds_length": 4557,
"cds_start": 3596,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679682.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3596_3597delGCinsTA",
"hgvs_p": "p.Gly1199Val",
"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": "V",
"aa_end": null,
"aa_length": 1440,
"aa_ref": "G",
"aa_start": 1121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4478,
"cdna_start": 3437,
"cds_end": null,
"cds_length": 4323,
"cds_start": 3362,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411146.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3362_3363delGCinsTA",
"hgvs_p": "p.Gly1121Val",
"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": "V",
"aa_end": null,
"aa_length": 1440,
"aa_ref": "G",
"aa_start": 1121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4478,
"cdna_start": 3437,
"cds_end": null,
"cds_length": 4323,
"cds_start": 3362,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680564.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3362_3363delGCinsTA",
"hgvs_p": "p.Gly1121Val",
"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": "V",
"aa_end": null,
"aa_length": 1434,
"aa_ref": "G",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 3671,
"cds_end": null,
"cds_length": 4305,
"cds_start": 3596,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680403.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3596_3597delGCinsTA",
"hgvs_p": "p.Gly1199Val",
"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": "V",
"aa_end": null,
"aa_length": 1406,
"aa_ref": "G",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4376,
"cdna_start": 3335,
"cds_end": null,
"cds_length": 4221,
"cds_start": 3260,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411147.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3260_3261delGCinsTA",
"hgvs_p": "p.Gly1087Val",
"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": "V",
"aa_end": null,
"aa_length": 1406,
"aa_ref": "G",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4339,
"cdna_start": 3302,
"cds_end": null,
"cds_length": 4221,
"cds_start": 3260,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679757.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3260_3261delGCinsTA",
"hgvs_p": "p.Gly1087Val",
"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": "V",
"aa_end": null,
"aa_length": 390,
"aa_ref": "G",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1173,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680211.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.212_213delGCinsTA",
"hgvs_p": "p.Gly71Val",
"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": "V",
"aa_end": null,
"aa_length": 1523,
"aa_ref": "G",
"aa_start": 1204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4709,
"cdna_start": 3686,
"cds_end": null,
"cds_length": 4572,
"cds_start": 3611,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017026665.2",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3611_3612delGCinsTA",
"hgvs_p": "p.Gly1204Val",
"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": "V",
"aa_end": null,
"aa_length": 1513,
"aa_ref": "G",
"aa_start": 1194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4697,
"cdna_start": 3656,
"cds_end": null,
"cds_length": 4542,
"cds_start": 3581,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438657.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3581_3582delGCinsTA",
"hgvs_p": "p.Gly1194Val",
"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": "V",
"aa_end": null,
"aa_length": 1486,
"aa_ref": "G",
"aa_start": 1167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 3575,
"cds_end": null,
"cds_length": 4461,
"cds_start": 3500,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005258809.3",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3500_3501delGCinsTA",
"hgvs_p": "p.Gly1167Val",
"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": "V",
"aa_end": null,
"aa_length": 1481,
"aa_ref": "G",
"aa_start": 1162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4601,
"cdna_start": 3560,
"cds_end": null,
"cds_length": 4446,
"cds_start": 3485,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438658.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3485_3486delGCinsTA",
"hgvs_p": "p.Gly1162Val",
"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": "V",
"aa_end": null,
"aa_length": 1481,
"aa_ref": "G",
"aa_start": 1162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4601,
"cdna_start": 3560,
"cds_end": null,
"cds_length": 4446,
"cds_start": 3485,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438659.1",
"gene_hgnc_id": 24502,
"gene_symbol": "WDR62",
"hgvs_c": "c.3485_3486delGCinsTA",
"hgvs_p": "p.Gly1162Val",
"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": "V",
"aa_end": null,
"aa_length": 1476,
"aa_ref": "G",
"aa_start": 1157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4586,
"cdna_start": 3545,
"cds_end": null,
"cds_length": 4431,
"cds_start": 3470,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
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