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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: 11-13323464-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=13323464&ref=G&alt=T&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": "BMAL1",
"hgnc_id": 701,
"hgvs_c": "c.-135+13405G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001351807.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "11",
"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": 626,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": null,
"cds_end": null,
"cds_length": 1881,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001297719.2",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
"hgvs_c": "c.-189-2949G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000403290.6",
"protein_coding": true,
"protein_id": "NP_001284648.1",
"strand": true,
"transcript": "NM_001297719.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 626,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": null,
"cds_end": null,
"cds_length": 1881,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000403290.6",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
"hgvs_c": "c.-189-2949G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001297719.2",
"protein_coding": true,
"protein_id": "ENSP00000384517.1",
"strand": true,
"transcript": "ENST00000403290.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000389707.8",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
"hgvs_c": "c.-189-2949G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000374357.4",
"strand": true,
"transcript": "ENST00000389707.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 582,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": null,
"cds_end": null,
"cds_length": 1749,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000401424.6",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
"hgvs_c": "c.-335+13405G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385915.2",
"strand": true,
"transcript": "ENST00000401424.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2747,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351807.2",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
"hgvs_c": "c.-135+13405G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338736.1",
"strand": true,
"transcript": "NM_001351807.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001351814.2",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
"hgvs_c": "c.-189-2949G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338743.1",
"strand": true,
"transcript": "NM_001351814.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873782.1",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
"hgvs_c": "c.-189-2949G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543841.1",
"strand": true,
"transcript": "ENST00000873782.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2796,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873783.1",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
"hgvs_c": "c.-135+13405G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543842.1",
"strand": true,
"transcript": "ENST00000873783.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873790.1",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
"hgvs_c": "c.-9+13405G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543848.1",
"strand": true,
"transcript": "ENST00000873790.1",
"transcript_support_level": null
},
{
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"aa_length": 631,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957601.1",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
"hgvs_c": "c.-189-2949G>T",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627660.1",
"strand": true,
"transcript": "ENST00000957601.1",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000957614.1",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
"hgvs_c": "c.-307-11507G>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627673.1",
"strand": true,
"transcript": "ENST00000957614.1",
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},
{
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"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 19,
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"feature": "NM_001351819.2",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001338748.1",
"strand": true,
"transcript": "NM_001351819.2",
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},
{
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],
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"protein_id": "ENSP00000501212.1",
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},
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000873787.1",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
"hgvs_c": "c.-135+13405G>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000543846.1",
"strand": true,
"transcript": "ENST00000873787.1",
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},
{
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],
"exon_count": 20,
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"feature": "ENST00000957602.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627661.1",
"strand": true,
"transcript": "ENST00000957602.1",
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},
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"cds_length": 1893,
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"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000957605.1",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
"hgvs_c": "c.-63-2949G>T",
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"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627664.1",
"strand": true,
"transcript": "ENST00000957605.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000957611.1",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
"hgvs_c": "c.-189-2949G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627670.1",
"strand": true,
"transcript": "ENST00000957611.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001297722.2",
"gene_hgnc_id": 701,
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"protein_coding": true,
"protein_id": "NP_001284651.1",
"strand": true,
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},
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"consequences": [
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],
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"feature": "NM_001351824.2",
"gene_hgnc_id": 701,
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"protein_coding": true,
"protein_id": "NP_001338753.1",
"strand": true,
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},
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"consequences": [
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],
"exon_count": 19,
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"feature": "ENST00000403510.8",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
"hgvs_c": "c.-135+13405G>T",
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"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000385581.4",
"strand": true,
"transcript": "ENST00000403510.8",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1881,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000529388.6",
"gene_hgnc_id": 701,
"gene_symbol": "BMAL1",
"hgvs_c": "c.-9+13405G>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000433571.2",
"strand": true,
"transcript": "ENST00000529388.6",
"transcript_support_level": 4
},
{
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