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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: 15-74815539-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74815539&ref=A&alt=G&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": "LMAN1L",
"hgnc_id": 6632,
"hgvs_c": "c.176-618A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_021819.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.92,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9200000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 526,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": null,
"cds_end": null,
"cds_length": 1581,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_021819.3",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "c.176-618A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000309664.10",
"protein_coding": true,
"protein_id": "NP_068591.2",
"strand": true,
"transcript": "NM_021819.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 526,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": null,
"cds_end": null,
"cds_length": 1581,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000309664.10",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "c.176-618A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021819.3",
"protein_coding": true,
"protein_id": "ENSP00000310431.5",
"strand": true,
"transcript": "ENST00000309664.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 514,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1699,
"cdna_start": null,
"cds_end": null,
"cds_length": 1545,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000379709.7",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "c.176-618A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369031.3",
"strand": true,
"transcript": "ENST00000379709.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1398,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000470711.6",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "n.229-618A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000470711.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 546,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1802,
"cdna_start": null,
"cds_end": null,
"cds_length": 1641,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947251.1",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "c.236-618A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617310.1",
"strand": true,
"transcript": "ENST00000947251.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 545,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947250.1",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "c.176-618A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617309.1",
"strand": true,
"transcript": "ENST00000947250.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 544,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1798,
"cdna_start": null,
"cds_end": null,
"cds_length": 1635,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947248.1",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "c.176-618A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617307.1",
"strand": true,
"transcript": "ENST00000947248.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 527,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": null,
"cds_end": null,
"cds_length": 1584,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947247.1",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "c.176-618A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617306.1",
"strand": true,
"transcript": "ENST00000947247.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 519,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": null,
"cds_end": null,
"cds_length": 1560,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947256.1",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "c.236-618A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617315.1",
"strand": true,
"transcript": "ENST00000947256.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 499,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1658,
"cdna_start": null,
"cds_end": null,
"cds_length": 1500,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947255.1",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "c.176-618A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617314.1",
"strand": true,
"transcript": "ENST00000947255.1",
"transcript_support_level": null
},
{
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"aa_length": 498,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": null,
"cds_end": null,
"cds_length": 1497,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947245.1",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "c.176-618A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617304.1",
"strand": true,
"transcript": "ENST00000947245.1",
"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,
"cds_length": 1497,
"cds_start": null,
"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000947253.1",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000617312.1",
"strand": true,
"transcript": "ENST00000947253.1",
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},
{
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"biotype": "protein_coding",
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],
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"feature": "ENST00000856995.1",
"gene_hgnc_id": 6632,
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"protein_coding": true,
"protein_id": "ENSP00000527054.1",
"strand": true,
"transcript": "ENST00000856995.1",
"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": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000947244.1",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "c.176-618A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000617303.1",
"strand": true,
"transcript": "ENST00000947244.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000947254.1",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "c.236-618A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000617313.1",
"strand": true,
"transcript": "ENST00000947254.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_length": 1296,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947246.1",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "c.176-618A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617305.1",
"strand": true,
"transcript": "ENST00000947246.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1408,
"cdna_start": null,
"cds_end": null,
"cds_length": 1248,
"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947252.1",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "c.176-618A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000617311.1",
"strand": true,
"transcript": "ENST00000947252.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "ENST00000562810.5",
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"protein_id": "ENSP00000456650.1",
"strand": true,
"transcript": "ENST00000562810.5",
"transcript_support_level": 4
},
{
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"consequences": [
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],
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"feature": "ENST00000456603.2",
"gene_hgnc_id": 6632,
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"hgvs_c": "n.127-618A>G",
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000456603.2",
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},
{
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"consequences": [
"intron_variant"
],
"exon_count": 3,
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"feature": "ENST00000568467.1",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "n.279-618A>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000568467.1",
"transcript_support_level": 4
},
{
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"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 565,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000570147.5",
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
"hgvs_c": "n.228-618A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000570147.5",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs7176022",
"effect": "intron_variant",
"frequency_reference_population": 0.000032889977,
"gene_hgnc_id": 6632,
"gene_symbol": "LMAN1L",
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}
]
}