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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: 12-24911484-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=24911484&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "BCAT1",
"hgnc_id": 976,
"hgvs_c": "c.7-9599C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_005504.7",
"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": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 386,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9314,
"cdna_start": null,
"cds_end": null,
"cds_length": 1161,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005504.7",
"gene_hgnc_id": 976,
"gene_symbol": "BCAT1",
"hgvs_c": "c.7-9599C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261192.12",
"protein_coding": true,
"protein_id": "NP_005495.2",
"strand": false,
"transcript": "NM_005504.7",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 386,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9314,
"cdna_start": null,
"cds_end": null,
"cds_length": 1161,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261192.12",
"gene_hgnc_id": 976,
"gene_symbol": "BCAT1",
"hgvs_c": "c.7-9599C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005504.7",
"protein_coding": true,
"protein_id": "ENSP00000261192.7",
"strand": false,
"transcript": "ENST00000261192.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 395,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2586,
"cdna_start": null,
"cds_end": null,
"cds_length": 1188,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905147.1",
"gene_hgnc_id": 976,
"gene_symbol": "BCAT1",
"hgvs_c": "c.7-9599C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575206.1",
"strand": false,
"transcript": "ENST00000905147.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 385,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8429,
"cdna_start": null,
"cds_end": null,
"cds_length": 1158,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916642.1",
"gene_hgnc_id": 976,
"gene_symbol": "BCAT1",
"hgvs_c": "c.7-9599C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586701.1",
"strand": false,
"transcript": "ENST00000916642.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 373,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7970,
"cdna_start": null,
"cds_end": null,
"cds_length": 1122,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916644.1",
"gene_hgnc_id": 976,
"gene_symbol": "BCAT1",
"hgvs_c": "c.7-9599C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586703.1",
"strand": false,
"transcript": "ENST00000916644.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 362,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9242,
"cdna_start": null,
"cds_end": null,
"cds_length": 1089,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413094.1",
"gene_hgnc_id": 976,
"gene_symbol": "BCAT1",
"hgvs_c": "c.7-17009C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400023.1",
"strand": false,
"transcript": "NM_001413094.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 349,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9203,
"cdna_start": null,
"cds_end": null,
"cds_length": 1050,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001178091.2",
"gene_hgnc_id": 976,
"gene_symbol": "BCAT1",
"hgvs_c": "c.7-9599C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171562.1",
"strand": false,
"transcript": "NM_001178091.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 349,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1360,
"cdna_start": null,
"cds_end": null,
"cds_length": 1050,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000539780.5",
"gene_hgnc_id": 976,
"gene_symbol": "BCAT1",
"hgvs_c": "c.7-9599C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440827.1",
"strand": false,
"transcript": "ENST00000539780.5",
"transcript_support_level": 2
},
{
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"aa_length": 346,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916648.1",
"gene_hgnc_id": 976,
"gene_symbol": "BCAT1",
"hgvs_c": "c.7-9599C>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586707.1",
"strand": false,
"transcript": "ENST00000916648.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413098.1",
"gene_hgnc_id": 976,
"gene_symbol": "BCAT1",
"hgvs_c": "c.-154-9607C>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001400027.1",
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"transcript": "NM_001413098.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000916647.1",
"gene_hgnc_id": 976,
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"hgvs_c": "c.7-9599C>G",
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"protein_coding": true,
"protein_id": "ENSP00000586706.1",
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"transcript": "ENST00000916647.1",
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},
{
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"feature": "NM_001413104.1",
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"protein_coding": true,
"protein_id": "NP_001400033.1",
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},
{
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},
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"consequences": [
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],
"exon_count": 9,
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"feature": "NM_001178092.2",
"gene_hgnc_id": 976,
"gene_symbol": "BCAT1",
"hgvs_c": "c.7-17009C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001171563.1",
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"transcript": "NM_001178092.2",
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},
{
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],
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"transcript": "ENST00000342945.9",
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},
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000916649.1",
"gene_hgnc_id": 976,
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"hgvs_c": "c.7-17009C>G",
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"protein_coding": true,
"protein_id": "ENSP00000586708.1",
"strand": false,
"transcript": "ENST00000916649.1",
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},
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],
"exon_count": 10,
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"feature": "ENST00000905146.1",
"gene_hgnc_id": 976,
"gene_symbol": "BCAT1",
"hgvs_c": "c.7-9599C>G",
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},
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],
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"feature": "NM_001413101.1",
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},
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],
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"feature": "ENST00000905149.1",
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},
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"consequences": [
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],
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"feature": "NM_001413103.1",
"gene_hgnc_id": 976,
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"hgvs_c": "c.7-9599C>G",
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"protein_coding": true,
"protein_id": "NP_001400032.1",
"strand": false,
"transcript": "NM_001413103.1",
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},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916645.1",
"gene_hgnc_id": 976,
"gene_symbol": "BCAT1",
"hgvs_c": "c.7-9599C>G",
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"intron_rank": 1,
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"protein_coding": true,
"protein_id": "ENSP00000586704.1",
"strand": false,
"transcript": "ENST00000916645.1",
"transcript_support_level": null
},
{
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