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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: 6-13584351-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=13584351&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SIRT5",
"hgnc_id": 14933,
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_012241.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": null,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 310,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4564,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012241.5",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000606117.2",
"protein_coding": true,
"protein_id": "NP_036373.1",
"strand": true,
"transcript": "NM_012241.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 310,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4564,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000606117.2",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012241.5",
"protein_coding": true,
"protein_id": "ENSP00000476228.1",
"strand": true,
"transcript": "ENST00000606117.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 310,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397350.7",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380509.3",
"strand": true,
"transcript": "ENST00000397350.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 299,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2339,
"cdna_start": null,
"cds_end": null,
"cds_length": 900,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000379262.8",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368564.4",
"strand": true,
"transcript": "ENST00000379262.8",
"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": 3727,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000379250.10",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "n.115+126A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000368552.5",
"strand": true,
"transcript": "ENST00000379250.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 313,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3401,
"cdna_start": null,
"cds_end": null,
"cds_length": 942,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680852.1",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505346.1",
"strand": true,
"transcript": "ENST00000680852.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 310,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3464,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376798.1",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363727.1",
"strand": true,
"transcript": "NM_001376798.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 310,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3402,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376799.1",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363728.1",
"strand": true,
"transcript": "NM_001376799.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 310,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3523,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376800.1",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363729.1",
"strand": true,
"transcript": "NM_001376800.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 310,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3585,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376801.1",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363730.1",
"strand": true,
"transcript": "NM_001376801.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 310,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3234,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376802.1",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363731.1",
"strand": true,
"transcript": "NM_001376802.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 310,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3393,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376803.1",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363732.1",
"strand": true,
"transcript": "NM_001376803.1",
"transcript_support_level": null
},
{
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"aa_length": 310,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "NM_001376804.1",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001363733.1",
"strand": true,
"transcript": "NM_001376804.1",
"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": 3468,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376805.1",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363734.1",
"strand": true,
"transcript": "NM_001376805.1",
"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": 3435,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376806.1",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363735.1",
"strand": true,
"transcript": "NM_001376806.1",
"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": 3601,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376807.1",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363736.1",
"strand": true,
"transcript": "NM_001376807.1",
"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": 1593,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680151.1",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000505086.1",
"strand": true,
"transcript": "ENST00000680151.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000680432.1",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000505496.1",
"strand": true,
"transcript": "ENST00000680432.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000888571.1",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558630.1",
"strand": true,
"transcript": "ENST00000888571.1",
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},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888572.1",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558631.1",
"strand": true,
"transcript": "ENST00000888572.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3681,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888574.1",
"gene_hgnc_id": 14933,
"gene_symbol": "SIRT5",
"hgvs_c": "c.115+126A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558633.1",
"strand": true,
"transcript": "ENST00000888574.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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