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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: 15-69336545-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=69336545&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PAQR5",
"hgnc_id": 29645,
"hgvs_c": "c.-276-796C>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_017705.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8299999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5372,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017705.4",
"gene_hgnc_id": 29645,
"gene_symbol": "PAQR5",
"hgvs_c": "c.-276-796C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395407.7",
"protein_coding": true,
"protein_id": "NP_060175.3",
"strand": true,
"transcript": "NM_017705.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5372,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395407.7",
"gene_hgnc_id": 29645,
"gene_symbol": "PAQR5",
"hgvs_c": "c.-276-796C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017705.4",
"protein_coding": true,
"protein_id": "ENSP00000378803.2",
"strand": true,
"transcript": "ENST00000395407.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5619,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001104554.2",
"gene_hgnc_id": 29645,
"gene_symbol": "PAQR5",
"hgvs_c": "c.-276-796C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001098024.1",
"strand": true,
"transcript": "NM_001104554.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2347,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000561153.5",
"gene_hgnc_id": 29645,
"gene_symbol": "PAQR5",
"hgvs_c": "c.-280-796C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453526.1",
"strand": true,
"transcript": "ENST00000561153.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909133.1",
"gene_hgnc_id": 29645,
"gene_symbol": "PAQR5",
"hgvs_c": "c.-276-796C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579192.1",
"strand": true,
"transcript": "ENST00000909133.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909134.1",
"gene_hgnc_id": 29645,
"gene_symbol": "PAQR5",
"hgvs_c": "c.-276-796C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579193.1",
"strand": true,
"transcript": "ENST00000909134.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4878,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909135.1",
"gene_hgnc_id": 29645,
"gene_symbol": "PAQR5",
"hgvs_c": "c.-276-796C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579194.1",
"strand": true,
"transcript": "ENST00000909135.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2045,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934600.1",
"gene_hgnc_id": 29645,
"gene_symbol": "PAQR5",
"hgvs_c": "c.-115-23421C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604659.1",
"strand": true,
"transcript": "ENST00000934600.1",
"transcript_support_level": null
},
{
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"aa_length": 330,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1626,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959805.1",
"gene_hgnc_id": 29645,
"gene_symbol": "PAQR5",
"hgvs_c": "c.-276-796C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629864.1",
"strand": true,
"transcript": "ENST00000959805.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 219,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3811,
"cdna_start": null,
"cds_end": null,
"cds_length": 660,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000909132.1",
"gene_hgnc_id": 29645,
"gene_symbol": "PAQR5",
"hgvs_c": "c.-276-796C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579191.1",
"strand": true,
"transcript": "ENST00000909132.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000909136.1",
"gene_hgnc_id": 29645,
"gene_symbol": "PAQR5",
"hgvs_c": "c.-276-796C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000579195.1",
"strand": true,
"transcript": "ENST00000909136.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"consequences": [
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],
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"feature": "ENST00000558684.5",
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"protein_coding": true,
"protein_id": "ENSP00000453009.1",
"strand": true,
"transcript": "ENST00000558684.5",
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},
{
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],
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"feature": "XM_011521720.3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011520022.1",
"strand": true,
"transcript": "XM_011521720.3",
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},
{
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"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "XM_017022360.2",
"gene_hgnc_id": 29645,
"gene_symbol": "PAQR5",
"hgvs_c": "c.-622-796C>A",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016877849.1",
"strand": true,
"transcript": "XM_017022360.2",
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},
{
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"consequences": [
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],
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"feature": "XM_017022362.2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016877851.1",
"strand": true,
"transcript": "XM_017022362.2",
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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": 9,
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"feature": "XM_024449966.2",
"gene_hgnc_id": 29645,
"gene_symbol": "PAQR5",
"hgvs_c": "c.-276-796C>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_024305734.1",
"strand": true,
"transcript": "XM_024449966.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047432743.1",
"gene_hgnc_id": 29645,
"gene_symbol": "PAQR5",
"hgvs_c": "c.-436-796C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047288699.1",
"strand": true,
"transcript": "XM_047432743.1",
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},
{
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],
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"feature": "XM_047432744.1",
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"protein_id": "XP_047288700.1",
"strand": true,
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},
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],
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"feature": "XM_047432745.1",
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"protein_id": "XP_047288701.1",
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},
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"consequences": [
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],
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"feature": "XM_047432746.1",
"gene_hgnc_id": 29645,
"gene_symbol": "PAQR5",
"hgvs_c": "c.-692-796C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047288702.1",
"strand": true,
"transcript": "XM_047432746.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 10,
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"exon_rank_end": null,
"feature": "XM_047432747.1",
"gene_hgnc_id": 29645,
"gene_symbol": "PAQR5",
"hgvs_c": "c.-377-796C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047288703.1",
"strand": true,
"transcript": "XM_047432747.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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