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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: 19-989730-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=989730&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "WDR18",
"hgnc_id": 17956,
"hgvs_c": "c.322-32C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_024100.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 184153,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8399999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 432,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1521,
"cdna_start": null,
"cds_end": null,
"cds_length": 1299,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024100.4",
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"hgvs_c": "c.322-32C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000585809.6",
"protein_coding": true,
"protein_id": "NP_077005.2",
"strand": true,
"transcript": "NM_024100.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 432,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1521,
"cdna_start": null,
"cds_end": null,
"cds_length": 1299,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000585809.6",
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"hgvs_c": "c.322-32C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024100.4",
"protein_coding": true,
"protein_id": "ENSP00000476117.3",
"strand": true,
"transcript": "ENST00000585809.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 509,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1768,
"cdna_start": null,
"cds_end": null,
"cds_length": 1530,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886864.1",
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"hgvs_c": "c.322-32C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556923.1",
"strand": true,
"transcript": "ENST00000886864.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 480,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1677,
"cdna_start": null,
"cds_end": null,
"cds_length": 1443,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933666.1",
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"hgvs_c": "c.322-32C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603725.1",
"strand": true,
"transcript": "ENST00000933666.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 471,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1640,
"cdna_start": null,
"cds_end": null,
"cds_length": 1416,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886866.1",
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"hgvs_c": "c.322-32C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556925.1",
"strand": true,
"transcript": "ENST00000886866.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1631,
"cdna_start": null,
"cds_end": null,
"cds_length": 1392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886863.1",
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"hgvs_c": "c.322-32C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556922.1",
"strand": true,
"transcript": "ENST00000886863.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 463,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1621,
"cdna_start": null,
"cds_end": null,
"cds_length": 1392,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966180.1",
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"hgvs_c": "c.322-32C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636239.1",
"strand": true,
"transcript": "ENST00000966180.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 432,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2116,
"cdna_start": null,
"cds_end": null,
"cds_length": 1299,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001372085.1",
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"hgvs_c": "c.322-32C>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001359014.1",
"strand": true,
"transcript": "NM_001372085.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 430,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1532,
"cdna_start": null,
"cds_end": null,
"cds_length": 1293,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886862.1",
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"hgvs_c": "c.322-32C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556921.1",
"strand": true,
"transcript": "ENST00000886862.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 430,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1542,
"cdna_start": null,
"cds_end": null,
"cds_length": 1293,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933665.1",
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"hgvs_c": "c.316-32C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603724.1",
"strand": true,
"transcript": "ENST00000933665.1",
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},
{
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000251289.9",
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"hgvs_c": "c.316-32C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000251289.4",
"strand": true,
"transcript": "ENST00000251289.9",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000587001.6",
"gene_hgnc_id": 17956,
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"protein_coding": true,
"protein_id": "ENSP00000464855.1",
"strand": true,
"transcript": "ENST00000587001.6",
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},
{
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],
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"protein_id": "ENSP00000475744.1",
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},
{
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000966179.1",
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"hgvs_c": "c.322-32C>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000636238.1",
"strand": true,
"transcript": "ENST00000966179.1",
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},
{
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],
"exon_count": 10,
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"feature": "ENST00000886865.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556924.1",
"strand": true,
"transcript": "ENST00000886865.1",
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},
{
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"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000886861.1",
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"hgvs_c": "c.322-32C>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556920.1",
"strand": true,
"transcript": "ENST00000886861.1",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cdna_start": null,
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"cds_length": 1068,
"cds_start": null,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001372086.1",
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"hgvs_c": "c.91-32C>A",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001359015.1",
"strand": true,
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},
{
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"consequences": [
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],
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"feature": "ENST00000591997.2",
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},
{
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],
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"feature": "ENST00000586317.2",
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"strand": true,
"transcript": "ENST00000586317.2",
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},
{
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"consequences": [
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],
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"feature": "ENST00000590397.5",
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"hgvs_c": "n.322-32C>A",
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000465826.3",
"strand": true,
"transcript": "ENST00000590397.5",
"transcript_support_level": 5
},
{
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000591985.6",
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"hgvs_c": "n.316-32C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466551.1",
"strand": true,
"transcript": "ENST00000591985.6",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2240147",
"effect": "intron_variant",
"frequency_reference_population": 0.114305064,
"gene_hgnc_id": 17956,
"gene_symbol": "WDR18",
"gnomad_exomes_ac": 170680,
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"transcript": "NM_024100.4"
}
]
}