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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: 10-29462021-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=29462021&ref=A&alt=G&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": "SVIL",
"hgnc_id": 11480,
"hgvs_c": "c.6402+256T>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_021738.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SVIL-AS1",
"hgnc_id": null,
"hgvs_c": "n.212-25134A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000413405.7",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 84597,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2214,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8306,
"cdna_start": null,
"cds_end": null,
"cds_length": 6645,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_021738.3",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6402+256T>C",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355867.9",
"protein_coding": true,
"protein_id": "NP_068506.2",
"strand": false,
"transcript": "NM_021738.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2214,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8306,
"cdna_start": null,
"cds_end": null,
"cds_length": 6645,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355867.9",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6402+256T>C",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021738.3",
"protein_coding": true,
"protein_id": "ENSP00000348128.4",
"strand": false,
"transcript": "ENST00000355867.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1788,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6729,
"cdna_start": null,
"cds_end": null,
"cds_length": 5367,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000375400.7",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.5124+256T>C",
"hgvs_p": null,
"intron_rank": 34,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364549.3",
"strand": false,
"transcript": "ENST00000375400.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000413405.7",
"gene_hgnc_id": null,
"gene_symbol": "SVIL-AS1",
"hgvs_c": "n.212-25134A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000413405.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3082,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000414457.7",
"gene_hgnc_id": null,
"gene_symbol": "SVIL-AS1",
"hgvs_c": "n.213-20812A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000414457.7",
"transcript_support_level": 1
},
{
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"aa_length": 2256,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8465,
"cdna_start": null,
"cds_end": null,
"cds_length": 6771,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860295.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6528+256T>C",
"hgvs_p": null,
"intron_rank": 38,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530354.1",
"strand": false,
"transcript": "ENST00000860295.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 2256,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8428,
"cdna_start": null,
"cds_end": null,
"cds_length": 6771,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946673.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6528+256T>C",
"hgvs_p": null,
"intron_rank": 40,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616732.1",
"strand": false,
"transcript": "ENST00000946673.1",
"transcript_support_level": null
},
{
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"aa_length": 2214,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8200,
"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
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"feature": "ENST00000860289.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6402+256T>C",
"hgvs_p": null,
"intron_rank": 38,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000530348.1",
"strand": false,
"transcript": "ENST00000860289.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 41,
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"feature": "ENST00000946674.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.6357+256T>C",
"hgvs_p": null,
"intron_rank": 39,
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"protein_id": "ENSP00000616733.1",
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"transcript": "ENST00000946674.1",
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},
{
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"consequences": [
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],
"exon_count": 39,
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"feature": "ENST00000946678.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000375398.6",
"gene_hgnc_id": 11480,
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"feature": "ENST00000946672.1",
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},
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"protein_coding": true,
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},
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],
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"feature": "ENST00000946670.1",
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},
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],
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"feature": "ENST00000860288.1",
"gene_hgnc_id": 11480,
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"hgvs_c": "c.6177+256T>C",
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"protein_coding": true,
"protein_id": "ENSP00000530347.1",
"strand": false,
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},
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"consequences": [
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],
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"feature": "ENST00000860291.1",
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"protein_id": "ENSP00000530350.1",
"strand": false,
"transcript": "ENST00000860291.1",
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},
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],
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"feature": "NM_001323599.2",
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},
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},
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],
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"feature": "ENST00000946679.1",
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},
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"consequences": [
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],
"exon_count": 38,
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"feature": "ENST00000946680.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.5421+256T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000616739.1",
"strand": false,
"transcript": "ENST00000946680.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 36,
"exon_rank": null,
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"feature": "ENST00000860299.1",
"gene_hgnc_id": 11480,
"gene_symbol": "SVIL",
"hgvs_c": "c.5376+256T>C",
"hgvs_p": null,
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"mane_plus": null,
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