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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: 8-122968457-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=122968457&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 122968457,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000314393.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZHX2",
"gene_hgnc_id": 18513,
"hgvs_c": "c.*5-4785T>A",
"hgvs_p": null,
"transcript": "NM_014943.5",
"protein_id": "NP_055758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": "ENST00000314393.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZHX2",
"gene_hgnc_id": 18513,
"hgvs_c": "c.*5-4785T>A",
"hgvs_p": null,
"transcript": "ENST00000314393.6",
"protein_id": "ENSP00000314709.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": "NM_014943.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZHX2",
"gene_hgnc_id": 18513,
"hgvs_c": "c.*5-4785T>A",
"hgvs_p": null,
"transcript": "NM_001362797.2",
"protein_id": "NP_001349726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZHX2",
"gene_hgnc_id": 18513,
"hgvs_c": "c.*5-4785T>A",
"hgvs_p": null,
"transcript": "NM_001412796.1",
"protein_id": "NP_001399725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZHX2",
"gene_hgnc_id": 18513,
"hgvs_c": "c.*5-4785T>A",
"hgvs_p": null,
"transcript": "NM_001412797.1",
"protein_id": "NP_001399726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZHX2",
"gene_hgnc_id": 18513,
"hgvs_c": "c.*5-4785T>A",
"hgvs_p": null,
"transcript": "NM_001412799.1",
"protein_id": "NP_001399728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZHX2",
"gene_hgnc_id": 18513,
"hgvs_c": "c.*5-4785T>A",
"hgvs_p": null,
"transcript": "NM_001412800.1",
"protein_id": "NP_001399729.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZHX2",
"gene_hgnc_id": 18513,
"hgvs_c": "c.*5-4785T>A",
"hgvs_p": null,
"transcript": "NM_001412801.1",
"protein_id": "NP_001399730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZHX2",
"gene_hgnc_id": 18513,
"hgvs_c": "c.*5-4785T>A",
"hgvs_p": null,
"transcript": "NM_001412802.1",
"protein_id": "NP_001399731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "ZHX2",
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"hgvs_c": "c.*5-4785T>A",
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"transcript": "NM_001412803.1",
"protein_id": "NP_001399732.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ZHX2",
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"hgvs_c": "c.*5-4785T>A",
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"transcript": "NM_001412804.1",
"protein_id": "NP_001399733.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "ZHX2",
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},
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],
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"gene_symbol": "ZHX2",
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},
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],
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},
{
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],
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"gene_symbol": "ZHX2",
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],
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},
{
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],
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"gene_symbol": "ZHX2",
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"hgvs_c": "c.*5-4785T>A",
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"transcript": "NM_001412811.1",
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},
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],
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],
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},
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],
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},
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"consequences": [
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],
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"gene_symbol": "ZHX2",
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"hgvs_c": "c.*5-4785T>A",
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"transcript": "XM_005250836.6",
"protein_id": "XP_005250893.1",
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},
{
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],
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "ZHX2",
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"hgvs_c": "c.*5-4785T>A",
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"protein_id": "XP_011515234.1",
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},
{
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{
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{
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],
"gene_symbol": "ZHX2",
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"gnomad_genomes_af": 0.00000658094,
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"gnomad_genomes_ac": 1,
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"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000314393.6",
"gene_symbol": "ZHX2",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}