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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: 17-40636060-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40636060&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SMARCE1",
"hgnc_id": 11109,
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Ala138Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_003079.5",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000264058",
"hgnc_id": null,
"hgvs_c": "n.*760G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000476049.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 49,
"alphamissense_prediction": null,
"alphamissense_score": 0.5172,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "17",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Coffin-Siris syndrome 5,Familial meningioma,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.38608020544052124,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 411,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5150,
"cdna_start": 503,
"cds_end": null,
"cds_length": 1236,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_003079.5",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Ala138Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000348513.12",
"protein_coding": true,
"protein_id": "NP_003070.3",
"strand": false,
"transcript": "NM_003079.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 411,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5150,
"cdna_start": 503,
"cds_end": null,
"cds_length": 1236,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000348513.12",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Ala138Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003079.5",
"protein_coding": true,
"protein_id": "ENSP00000323967.6",
"strand": false,
"transcript": "ENST00000348513.12",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 341,
"aa_ref": "A",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1026,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000578044.6",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Ala68Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464511.1",
"strand": false,
"transcript": "ENST00000578044.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 328,
"aa_ref": "A",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2348,
"cdna_start": 422,
"cds_end": null,
"cds_length": 987,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000377808.9",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.307G>A",
"hgvs_p": "p.Ala103Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367039.4",
"strand": false,
"transcript": "ENST00000377808.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 311,
"aa_ref": "A",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 397,
"cds_end": null,
"cds_length": 936,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000580419.6",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.307G>A",
"hgvs_p": "p.Ala103Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462475.2",
"strand": false,
"transcript": "ENST00000580419.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 293,
"aa_ref": "A",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2600,
"cdna_start": 673,
"cds_end": null,
"cds_length": 882,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000400122.8",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Ala68Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411607.2",
"strand": false,
"transcript": "ENST00000400122.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000476049.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000264058",
"hgvs_c": "n.*760G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463483.1",
"strand": false,
"transcript": "ENST00000476049.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000476049.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000264058",
"hgvs_c": "n.*760G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463483.1",
"strand": false,
"transcript": "ENST00000476049.1",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 423,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 517,
"cds_end": null,
"cds_length": 1272,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000924673.1",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Ala138Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594732.1",
"strand": false,
"transcript": "ENST00000924673.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 411,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": 646,
"cds_end": null,
"cds_length": 1236,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000643683.1",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Ala138Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496094.1",
"strand": false,
"transcript": "ENST00000643683.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 411,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3074,
"cdna_start": 1198,
"cds_end": null,
"cds_length": 1236,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951586.1",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Ala138Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621645.1",
"strand": false,
"transcript": "ENST00000951586.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 393,
"aa_ref": "A",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1569,
"cdna_start": 428,
"cds_end": null,
"cds_length": 1182,
"cds_start": 358,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000431889.6",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Ala120Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445370.1",
"strand": false,
"transcript": "ENST00000431889.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 376,
"aa_ref": "A",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1131,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000647508.1",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.307G>A",
"hgvs_p": "p.Ala103Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496445.1",
"strand": false,
"transcript": "ENST00000647508.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 367,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1320,
"cdna_start": 446,
"cds_end": null,
"cds_length": 1104,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000646482.1",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Ala138Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496661.1",
"strand": false,
"transcript": "ENST00000646482.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 363,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2997,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1092,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000264640.9",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Ala138Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466608.2",
"strand": false,
"transcript": "ENST00000264640.9",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 363,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 527,
"cds_end": null,
"cds_length": 1092,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000447024.6",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Ala138Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392958.2",
"strand": false,
"transcript": "ENST00000447024.6",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 363,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2488,
"cdna_start": 522,
"cds_end": null,
"cds_length": 1092,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000644701.1",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.412G>A",
"hgvs_p": "p.Ala138Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496097.1",
"strand": false,
"transcript": "ENST00000644701.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 375,
"cds_end": null,
"cds_length": 1044,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000646283.1",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Ala68Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494537.1",
"strand": false,
"transcript": "ENST00000646283.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 341,
"aa_ref": "A",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5796,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 1026,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000643318.1",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Ala68Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494771.1",
"strand": false,
"transcript": "ENST00000643318.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 335,
"aa_ref": "A",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 368,
"cds_end": null,
"cds_length": 1008,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000644527.1",
"gene_hgnc_id": 11109,
"gene_symbol": "SMARCE1",
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Ala68Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493974.1",
"strand": false,
"transcript": "ENST00000644527.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 332,
"aa_ref": "A",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
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