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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: 10-112406218-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=112406218&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": "ACSL5",
"hgnc_id": 16526,
"hgvs_c": "c.600+1412A>T",
"hgvs_p": null,
"inheritance_mode": "Unknown",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_016234.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000232934",
"hgnc_id": null,
"hgvs_c": "n.753T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000449782.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 30493,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.92,
"chr": "10",
"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": 683,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3253,
"cdna_start": null,
"cds_end": null,
"cds_length": 2052,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_203379.2",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.432+1412A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354655.9",
"protein_coding": true,
"protein_id": "NP_976313.1",
"strand": true,
"transcript": "NM_203379.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 683,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3253,
"cdna_start": null,
"cds_end": null,
"cds_length": 2052,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354655.9",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.432+1412A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_203379.2",
"protein_coding": true,
"protein_id": "ENSP00000346680.4",
"strand": true,
"transcript": "ENST00000354655.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 739,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3343,
"cdna_start": null,
"cds_end": null,
"cds_length": 2220,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356116.6",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.600+1412A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348429.1",
"strand": true,
"transcript": "ENST00000356116.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 697,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3188,
"cdna_start": null,
"cds_end": null,
"cds_length": 2094,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354273.5",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.600+1412A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346223.5",
"strand": true,
"transcript": "ENST00000354273.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 739,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3343,
"cdna_start": null,
"cds_end": null,
"cds_length": 2220,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016234.4",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.600+1412A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057318.2",
"strand": true,
"transcript": "NM_016234.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 715,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3271,
"cdna_start": null,
"cds_end": null,
"cds_length": 2148,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387037.1",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.600+1412A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373966.1",
"strand": true,
"transcript": "NM_001387037.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 715,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3281,
"cdna_start": null,
"cds_end": null,
"cds_length": 2148,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000433418.6",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.600+1412A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403647.2",
"strand": true,
"transcript": "ENST00000433418.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 683,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3374,
"cdna_start": null,
"cds_end": null,
"cds_length": 2052,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_203380.2",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.432+1412A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_976314.1",
"strand": true,
"transcript": "NM_203380.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 683,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3394,
"cdna_start": null,
"cds_end": null,
"cds_length": 2052,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393081.6",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.432+1412A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376796.1",
"strand": true,
"transcript": "ENST00000393081.6",
"transcript_support_level": 5
},
{
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"aa_length": 683,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2186,
"cdna_start": null,
"cds_end": null,
"cds_length": 2052,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861349.1",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.432+1412A>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531408.1",
"strand": true,
"transcript": "ENST00000861349.1",
"transcript_support_level": null
},
{
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"aa_length": 683,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3620,
"cdna_start": null,
"cds_end": null,
"cds_length": 2052,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000861353.1",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.432+1412A>T",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000531412.1",
"strand": true,
"transcript": "ENST00000861353.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000861356.1",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.432+1412A>T",
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"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000531415.1",
"strand": true,
"transcript": "ENST00000861356.1",
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},
{
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"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000861357.1",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.432+1412A>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531416.1",
"strand": true,
"transcript": "ENST00000861357.1",
"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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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000861365.1",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.432+1412A>T",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000531424.1",
"strand": true,
"transcript": "ENST00000861365.1",
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},
{
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"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861366.1",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.432+1412A>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531425.1",
"strand": true,
"transcript": "ENST00000861366.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861368.1",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.432+1412A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531427.1",
"strand": true,
"transcript": "ENST00000861368.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000861369.1",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.432+1412A>T",
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"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000531428.1",
"strand": true,
"transcript": "ENST00000861369.1",
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},
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"consequences": [
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],
"exon_count": 21,
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"exon_rank_end": null,
"feature": "ENST00000954837.1",
"gene_hgnc_id": 16526,
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"hgvs_c": "c.432+1412A>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000624896.1",
"strand": true,
"transcript": "ENST00000954837.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
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],
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"exon_rank": null,
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"feature": "ENST00000861351.1",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.432+1412A>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000531410.1",
"strand": true,
"transcript": "ENST00000861351.1",
"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": 1980,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861359.1",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
"hgvs_c": "c.432+1412A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531418.1",
"strand": true,
"transcript": "ENST00000861359.1",
"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": 3298,
"cdna_start": null,
"cds_end": null,
"cds_length": 1980,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954832.1",
"gene_hgnc_id": 16526,
"gene_symbol": "ACSL5",
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}
]
}