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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: 16-75052977-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=75052977&ref=A&alt=T&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": "ZNRF1",
"hgnc_id": 18452,
"hgvs_c": "c.425-40595A>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_032268.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 18925,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8600000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 227,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4626,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032268.5",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.425-40595A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000335325.9",
"protein_coding": true,
"protein_id": "NP_115644.1",
"strand": true,
"transcript": "NM_032268.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 227,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4626,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000335325.9",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.425-40595A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032268.5",
"protein_coding": true,
"protein_id": "ENSP00000335091.4",
"strand": true,
"transcript": "ENST00000335325.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 278,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2479,
"cdna_start": null,
"cds_end": null,
"cds_length": 837,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000320619.10",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.425-40595A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000323362.6",
"strand": true,
"transcript": "ENST00000320619.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 227,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1234,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567962.5",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.425-40595A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455601.1",
"strand": true,
"transcript": "ENST00000567962.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 209,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1069,
"cdna_start": null,
"cds_end": null,
"cds_length": 630,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000566250.5",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.425-40595A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456168.1",
"strand": true,
"transcript": "ENST00000566250.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 263,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": null,
"cds_end": null,
"cds_length": 792,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881834.1",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.425-40595A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551893.1",
"strand": true,
"transcript": "ENST00000881834.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 263,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3594,
"cdna_start": null,
"cds_end": null,
"cds_length": 792,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926892.1",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.425-40595A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596951.1",
"strand": true,
"transcript": "ENST00000926892.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 263,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": null,
"cds_end": null,
"cds_length": 792,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959617.1",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.425-40595A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629676.1",
"strand": true,
"transcript": "ENST00000959617.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 227,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881833.1",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.425-40595A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551892.1",
"strand": true,
"transcript": "ENST00000881833.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 227,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1565,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881836.1",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.425-40595A>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551895.1",
"strand": true,
"transcript": "ENST00000881836.1",
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},
{
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"canonical": false,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000881837.1",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.425-40595A>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000551896.1",
"strand": true,
"transcript": "ENST00000881837.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000881838.1",
"gene_hgnc_id": 18452,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000551897.1",
"strand": true,
"transcript": "ENST00000881838.1",
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},
{
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],
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"feature": "ENST00000926890.1",
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"protein_coding": true,
"protein_id": "ENSP00000596949.1",
"strand": true,
"transcript": "ENST00000926890.1",
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},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000926891.1",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.425-40595A>T",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000596950.1",
"strand": true,
"transcript": "ENST00000926891.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000926893.1",
"gene_hgnc_id": 18452,
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"hgvs_c": "c.425-40595A>T",
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"protein_coding": true,
"protein_id": "ENSP00000596952.1",
"strand": true,
"transcript": "ENST00000926893.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000959615.1",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.425-40595A>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000629674.1",
"strand": true,
"transcript": "ENST00000959615.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000959616.1",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.425-40595A>T",
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"protein_id": "ENSP00000629675.1",
"strand": true,
"transcript": "ENST00000959616.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000881835.1",
"gene_hgnc_id": 18452,
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"protein_coding": true,
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"strand": true,
"transcript": "ENST00000881835.1",
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},
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"consequences": [
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],
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"feature": "ENST00000568511.1",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.-253-31452A>T",
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"protein_id": "ENSP00000462910.1",
"strand": true,
"transcript": "ENST00000568511.1",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
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"feature": "XM_017023793.2",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.425-40595A>T",
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"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879282.1",
"strand": true,
"transcript": "XM_017023793.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 429,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011523392.2",
"gene_hgnc_id": 18452,
"gene_symbol": "ZNRF1",
"hgvs_c": "c.425-31452A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521694.1",
"strand": true,
"transcript": "XM_011523392.2",
"transcript_support_level": null
},
{
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"aa_length": null,
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