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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: 3-47666322-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47666322&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": "SMARCC1",
"hgnc_id": 11104,
"hgvs_c": "c.1900-3730G>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_003074.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 90497,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1105,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6354,
"cdna_start": null,
"cds_end": null,
"cds_length": 3318,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003074.4",
"gene_hgnc_id": 11104,
"gene_symbol": "SMARCC1",
"hgvs_c": "c.1900-3730G>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000254480.10",
"protein_coding": true,
"protein_id": "NP_003065.3",
"strand": false,
"transcript": "NM_003074.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1105,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6354,
"cdna_start": null,
"cds_end": null,
"cds_length": 3318,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000254480.10",
"gene_hgnc_id": 11104,
"gene_symbol": "SMARCC1",
"hgvs_c": "c.1900-3730G>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003074.4",
"protein_coding": true,
"protein_id": "ENSP00000254480.5",
"strand": false,
"transcript": "ENST00000254480.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1149,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5864,
"cdna_start": null,
"cds_end": null,
"cds_length": 3450,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938791.1",
"gene_hgnc_id": 11104,
"gene_symbol": "SMARCC1",
"hgvs_c": "c.1900-3730G>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608850.1",
"strand": false,
"transcript": "ENST00000938791.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1136,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5852,
"cdna_start": null,
"cds_end": null,
"cds_length": 3411,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855763.1",
"gene_hgnc_id": 11104,
"gene_symbol": "SMARCC1",
"hgvs_c": "c.1993-3730G>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525822.1",
"strand": false,
"transcript": "ENST00000855763.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1136,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4122,
"cdna_start": null,
"cds_end": null,
"cds_length": 3411,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938807.1",
"gene_hgnc_id": 11104,
"gene_symbol": "SMARCC1",
"hgvs_c": "c.1993-3730G>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608866.1",
"strand": false,
"transcript": "ENST00000938807.1",
"transcript_support_level": null
},
{
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"aa_length": 1135,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5864,
"cdna_start": null,
"cds_end": null,
"cds_length": 3408,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938787.1",
"gene_hgnc_id": 11104,
"gene_symbol": "SMARCC1",
"hgvs_c": "c.1990-3730G>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608846.1",
"strand": false,
"transcript": "ENST00000938787.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1115,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5601,
"cdna_start": null,
"cds_end": null,
"cds_length": 3348,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938802.1",
"gene_hgnc_id": 11104,
"gene_symbol": "SMARCC1",
"hgvs_c": "c.1900-3730G>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608861.1",
"strand": false,
"transcript": "ENST00000938802.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1104,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5769,
"cdna_start": null,
"cds_end": null,
"cds_length": 3315,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855762.1",
"gene_hgnc_id": 11104,
"gene_symbol": "SMARCC1",
"hgvs_c": "c.1897-3730G>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525821.1",
"strand": false,
"transcript": "ENST00000855762.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5727,
"cdna_start": null,
"cds_end": null,
"cds_length": 3315,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
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"feature": "ENST00000855764.1",
"gene_hgnc_id": 11104,
"gene_symbol": "SMARCC1",
"hgvs_c": "c.1900-3730G>T",
"hgvs_p": null,
"intron_rank": 19,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525823.1",
"strand": false,
"transcript": "ENST00000855764.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 28,
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"feature": "ENST00000938799.1",
"gene_hgnc_id": 11104,
"gene_symbol": "SMARCC1",
"hgvs_c": "c.1900-3730G>T",
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"mane_plus": null,
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"protein_id": "ENSP00000608858.1",
"strand": false,
"transcript": "ENST00000938799.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000938801.1",
"gene_hgnc_id": 11104,
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"mane_plus": null,
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"protein_coding": true,
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},
{
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],
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"feature": "ENST00000938805.1",
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},
{
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"protein_coding": true,
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"transcript": "ENST00000938793.1",
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},
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],
"exon_count": 28,
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"feature": "ENST00000938790.1",
"gene_hgnc_id": 11104,
"gene_symbol": "SMARCC1",
"hgvs_c": "c.1882-3730G>T",
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},
{
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],
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"feature": "ENST00000938789.1",
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"protein_coding": true,
"protein_id": "ENSP00000608848.1",
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"transcript": "ENST00000938789.1",
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},
{
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],
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"feature": "ENST00000855770.1",
"gene_hgnc_id": 11104,
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"hgvs_c": "c.1840-3730G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000525829.1",
"strand": false,
"transcript": "ENST00000855770.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000938792.1",
"gene_hgnc_id": 11104,
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},
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],
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"feature": "ENST00000938803.1",
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},
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"consequences": [
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],
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"feature": "ENST00000938795.1",
"gene_hgnc_id": 11104,
"gene_symbol": "SMARCC1",
"hgvs_c": "c.1783-3730G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000608854.1",
"strand": false,
"transcript": "ENST00000938795.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 27,
"exon_rank": null,
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"feature": "ENST00000855767.1",
"gene_hgnc_id": 11104,
"gene_symbol": "SMARCC1",
"hgvs_c": "c.1780-3730G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000525826.1",
"strand": false,
"transcript": "ENST00000855767.1",
"transcript_support_level": null
},
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