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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: 11-14888199-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=14888199&ref=A&alt=T&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": "PDE3B",
"hgnc_id": 8779,
"hgvs_c": "c.2887-10757A>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001429699.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CYP2R1",
"hgnc_id": 20580,
"hgvs_c": "c.226-2282T>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_024514.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 15449,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 501,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2214,
"cdna_start": null,
"cds_end": null,
"cds_length": 1506,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024514.5",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "c.226-2282T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334636.10",
"protein_coding": true,
"protein_id": "NP_078790.2",
"strand": false,
"transcript": "NM_024514.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 501,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2214,
"cdna_start": null,
"cds_end": null,
"cds_length": 1506,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000334636.10",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "c.226-2282T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024514.5",
"protein_coding": true,
"protein_id": "ENSP00000334592.5",
"strand": false,
"transcript": "ENST00000334636.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000530609.5",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "n.-65-2282T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466060.1",
"strand": false,
"transcript": "ENST00000530609.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1668,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000534686.5",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "n.-65-2282T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432087.2",
"strand": false,
"transcript": "ENST00000534686.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1016,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": null,
"cds_end": null,
"cds_length": 3051,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001429699.1",
"gene_hgnc_id": 8779,
"gene_symbol": "PDE3B",
"hgvs_c": "c.2887-10757A>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001416628.1",
"strand": true,
"transcript": "NM_001429699.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 982,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3535,
"cdna_start": null,
"cds_end": null,
"cds_length": 2949,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001429700.1",
"gene_hgnc_id": 8779,
"gene_symbol": "PDE3B",
"hgvs_c": "c.2887-10746A>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001416629.1",
"strand": true,
"transcript": "NM_001429700.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 486,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": null,
"cds_end": null,
"cds_length": 1461,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400568.1",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "c.181-2282T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387497.1",
"strand": false,
"transcript": "NM_001400568.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 453,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": null,
"cds_end": null,
"cds_length": 1362,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400567.1",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "c.81+2233T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387496.1",
"strand": false,
"transcript": "NM_001400567.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 447,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2773,
"cdna_start": null,
"cds_end": null,
"cds_length": 1344,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377217.1",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "c.63+2233T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364146.1",
"strand": false,
"transcript": "NM_001377217.1",
"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": 2735,
"cdna_start": null,
"cds_end": null,
"cds_length": 1161,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377214.1",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "c.-120-2282T>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364143.1",
"strand": false,
"transcript": "NM_001377214.1",
"transcript_support_level": null
},
{
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"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,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
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"feature": "NM_001377215.1",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "c.-121+2233T>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001364144.1",
"strand": false,
"transcript": "NM_001377215.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 5,
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"feature": "NM_001377216.1",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "c.-120-2282T>A",
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"protein_coding": true,
"protein_id": "NP_001364145.1",
"strand": false,
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},
{
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"consequences": [
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],
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"feature": "NM_001377227.1",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "c.-120-2282T>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001364156.1",
"strand": false,
"transcript": "NM_001377227.1",
"transcript_support_level": null
},
{
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"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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"consequences": [
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],
"exon_count": 5,
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"feature": "NM_001400558.1",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "c.-120-2282T>A",
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"protein_coding": true,
"protein_id": "NP_001387487.1",
"strand": false,
"transcript": "NM_001400558.1",
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},
{
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"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "NM_001400559.1",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "c.-320-370T>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001387488.1",
"strand": false,
"transcript": "NM_001400559.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "NM_001400560.1",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "c.-320-370T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001387489.1",
"strand": false,
"transcript": "NM_001400560.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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],
"exon_count": 6,
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"feature": "NM_001400561.1",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "c.-121+2233T>A",
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"protein_coding": true,
"protein_id": "NP_001387490.1",
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},
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],
"exon_count": 5,
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"feature": "ENST00000921520.1",
"gene_hgnc_id": 20580,
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"hgvs_c": "c.226-2282T>A",
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"protein_coding": true,
"protein_id": "ENSP00000591579.1",
"strand": false,
"transcript": "ENST00000921520.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000921519.1",
"gene_hgnc_id": 20580,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000591578.1",
"strand": false,
"transcript": "ENST00000921519.1",
"transcript_support_level": 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": 807,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400562.1",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "c.-65-2282T>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387491.1",
"strand": false,
"transcript": "NM_001400562.1",
"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": 2515,
"cdna_start": null,
"cds_end": null,
"cds_length": 807,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400563.1",
"gene_hgnc_id": 20580,
"gene_symbol": "CYP2R1",
"hgvs_c": "c.-66+2233T>A",
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