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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: 1-161230697-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161230697&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "TOMM40L",
"hgnc_id": 25756,
"hgvs_c": "c.*1602C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_032174.6",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NR1I3",
"hgnc_id": 7969,
"hgvs_c": "c.944+116G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001077482.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8299999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 308,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2790,
"cdna_start": null,
"cds_end": null,
"cds_length": 927,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_032174.6",
"gene_hgnc_id": 25756,
"gene_symbol": "TOMM40L",
"hgvs_c": "c.*1602C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367988.8",
"protein_coding": true,
"protein_id": "NP_115550.2",
"strand": true,
"transcript": "NM_032174.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 308,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2790,
"cdna_start": null,
"cds_end": null,
"cds_length": 927,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000367988.8",
"gene_hgnc_id": 25756,
"gene_symbol": "TOMM40L",
"hgvs_c": "c.*1602C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032174.6",
"protein_coding": true,
"protein_id": "ENSP00000356967.3",
"strand": true,
"transcript": "ENST00000367988.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 348,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1371,
"cdna_start": null,
"cds_end": null,
"cds_length": 1047,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005122.5",
"gene_hgnc_id": 7969,
"gene_symbol": "NR1I3",
"hgvs_c": "c.917+116G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367983.9",
"protein_coding": true,
"protein_id": "NP_005113.1",
"strand": false,
"transcript": "NM_005122.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 348,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1371,
"cdna_start": null,
"cds_end": null,
"cds_length": 1047,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367983.9",
"gene_hgnc_id": 7969,
"gene_symbol": "NR1I3",
"hgvs_c": "c.917+116G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005122.5",
"protein_coding": true,
"protein_id": "ENSP00000356962.5",
"strand": false,
"transcript": "ENST00000367983.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 357,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1074,
"cdna_start": null,
"cds_end": null,
"cds_length": 1074,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367979.6",
"gene_hgnc_id": 7969,
"gene_symbol": "NR1I3",
"hgvs_c": "c.944+116G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356958.2",
"strand": false,
"transcript": "ENST00000367979.6",
"transcript_support_level": 1
},
{
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"aa_length": 352,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1322,
"cdna_start": null,
"cds_end": null,
"cds_length": 1059,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367982.8",
"gene_hgnc_id": 7969,
"gene_symbol": "NR1I3",
"hgvs_c": "c.929+116G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356961.4",
"strand": false,
"transcript": "ENST00000367982.8",
"transcript_support_level": 1
},
{
"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": 1117,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000428574.6",
"gene_hgnc_id": 7969,
"gene_symbol": "NR1I3",
"hgvs_c": "c.932+116G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412672.2",
"strand": false,
"transcript": "ENST00000428574.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
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"aa_length": 339,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1114,
"cdna_start": null,
"cds_end": null,
"cds_length": 1020,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000442691.6",
"gene_hgnc_id": 7969,
"gene_symbol": "NR1I3",
"hgvs_c": "c.929+116G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406493.2",
"strand": false,
"transcript": "ENST00000442691.6",
"transcript_support_level": 1
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
"intron_variant"
],
"exon_count": 8,
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"feature": "ENST00000367981.7",
"gene_hgnc_id": 7969,
"gene_symbol": "NR1I3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000356960.3",
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"transcript": "ENST00000367981.7",
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},
{
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"consequences": [
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],
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"feature": "ENST00000511676.5",
"gene_hgnc_id": 7969,
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"strand": false,
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},
{
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],
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},
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"feature": "ENST00000367985.7",
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"feature": "ENST00000508740.5",
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"protein_coding": true,
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},
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],
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"feature": "ENST00000367984.8",
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},
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"feature": "ENST00000437437.6",
"gene_hgnc_id": 7969,
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"hgvs_c": "c.830+116G>A",
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"protein_coding": true,
"protein_id": "ENSP00000407446.2",
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},
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],
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"feature": "ENST00000505005.5",
"gene_hgnc_id": 7969,
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"hgvs_c": "c.800+116G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000424934.1",
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"transcript": "ENST00000505005.5",
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},
{
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],
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"feature": "ENST00000515621.5",
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},
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],
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000512372.5",
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},
{
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"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000502985.5",
"gene_hgnc_id": 7969,
"gene_symbol": "NR1I3",
"hgvs_c": "c.*46+116G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000421374.1",
"strand": false,
"transcript": "ENST00000502985.5",
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},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000511944.5",
"gene_hgnc_id": 7969,
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