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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: 15-40696823-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40696823&ref=T&alt=C&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": "RAD51",
"hgnc_id": 9817,
"hgvs_c": "c.-3+1398T>C",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_133487.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 118537,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.02,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.0199999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 339,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2436,
"cdna_start": null,
"cds_end": null,
"cds_length": 1020,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002875.5",
"gene_hgnc_id": 9817,
"gene_symbol": "RAD51",
"hgvs_c": "c.-3+1398T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000267868.8",
"protein_coding": true,
"protein_id": "NP_002866.2",
"strand": true,
"transcript": "NM_002875.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 339,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2436,
"cdna_start": null,
"cds_end": null,
"cds_length": 1020,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000267868.8",
"gene_hgnc_id": 9817,
"gene_symbol": "RAD51",
"hgvs_c": "c.-3+1398T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002875.5",
"protein_coding": true,
"protein_id": "ENSP00000267868.3",
"strand": true,
"transcript": "ENST00000267868.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 339,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1539,
"cdna_start": null,
"cds_end": null,
"cds_length": 1020,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000532743.6",
"gene_hgnc_id": 9817,
"gene_symbol": "RAD51",
"hgvs_c": "c.-3+1197T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433924.2",
"strand": true,
"transcript": "ENST00000532743.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 280,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1611,
"cdna_start": null,
"cds_end": null,
"cds_length": 843,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000423169.6",
"gene_hgnc_id": 9817,
"gene_symbol": "RAD51",
"hgvs_c": "c.-3+1398T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406602.2",
"strand": true,
"transcript": "ENST00000423169.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 242,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1397,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000557850.5",
"gene_hgnc_id": 9817,
"gene_symbol": "RAD51",
"hgvs_c": "c.-3+1398T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454176.1",
"strand": true,
"transcript": "ENST00000557850.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001164269.2",
"gene_hgnc_id": 9817,
"gene_symbol": "RAD51",
"hgvs_c": "c.-3+1502T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157741.1",
"strand": true,
"transcript": "NM_001164269.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_133487.4",
"gene_hgnc_id": 9817,
"gene_symbol": "RAD51",
"hgvs_c": "c.-3+1398T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_597994.3",
"strand": true,
"transcript": "NM_133487.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382643.7",
"gene_hgnc_id": 9817,
"gene_symbol": "RAD51",
"hgvs_c": "c.-3+1502T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372088.3",
"strand": true,
"transcript": "ENST00000382643.7",
"transcript_support_level": 2
},
{
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"aa_end": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645673.2",
"gene_hgnc_id": 9817,
"gene_symbol": "RAD51",
"hgvs_c": "c.-3+1398T>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493712.2",
"strand": true,
"transcript": "ENST00000645673.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 339,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000894385.1",
"gene_hgnc_id": 9817,
"gene_symbol": "RAD51",
"hgvs_c": "c.-3+1854T>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564444.1",
"strand": true,
"transcript": "ENST00000894385.1",
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},
{
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000912737.1",
"gene_hgnc_id": 9817,
"gene_symbol": "RAD51",
"hgvs_c": "c.-121-302T>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000582796.1",
"strand": true,
"transcript": "ENST00000912737.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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],
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"feature": "ENST00000912738.1",
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"transcript": "ENST00000912738.1",
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},
{
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},
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],
"exon_count": 9,
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"feature": "ENST00000948778.1",
"gene_hgnc_id": 9817,
"gene_symbol": "RAD51",
"hgvs_c": "c.-3+1398T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000618837.1",
"strand": true,
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},
{
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],
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"feature": "NM_001164270.2",
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"protein_coding": true,
"protein_id": "NP_001157742.1",
"strand": true,
"transcript": "NM_001164270.2",
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},
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000912736.1",
"gene_hgnc_id": 9817,
"gene_symbol": "RAD51",
"hgvs_c": "c.-3+1398T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000582795.1",
"strand": true,
"transcript": "ENST00000912736.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000894386.1",
"gene_hgnc_id": 9817,
"gene_symbol": "RAD51",
"hgvs_c": "c.-3+1398T>C",
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"protein_id": "ENSP00000564445.1",
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},
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],
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"feature": "ENST00000527860.5",
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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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"feature": "XM_011521857.3",
"gene_hgnc_id": 9817,
"gene_symbol": "RAD51",
"hgvs_c": "c.89-1934T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011520159.2",
"strand": true,
"transcript": "XM_011521857.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "XM_011521858.3",
"gene_hgnc_id": 9817,
"gene_symbol": "RAD51",
"hgvs_c": "c.-3+1197T>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011520160.1",
"strand": true,
"transcript": "XM_011521858.3",
"transcript_support_level": null
},
{
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