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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: 14-45151519-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=45151519&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "FANCM",
"hgnc_id": 23168,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Pro347Pro",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_020937.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -19,
"allele_count_reference_population": 2840,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "14",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Fanconi anemia,Inborn genetic diseases,Premature ovarian failure 15,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4000000059604645,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2048,
"aa_ref": "P",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7131,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 6147,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_020937.4",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Pro347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000267430.10",
"protein_coding": true,
"protein_id": "NP_065988.1",
"strand": true,
"transcript": "NM_020937.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2048,
"aa_ref": "P",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7131,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 6147,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000267430.10",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Pro347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020937.4",
"protein_coding": true,
"protein_id": "ENSP00000267430.5",
"strand": true,
"transcript": "ENST00000267430.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2022,
"aa_ref": "P",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6167,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 6069,
"cds_start": 963,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000542564.6",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.963G>A",
"hgvs_p": "p.Pro321Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442493.2",
"strand": true,
"transcript": "ENST00000542564.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1979,
"aa_ref": "P",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6924,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 5940,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000556250.6",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Pro347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452033.2",
"strand": true,
"transcript": "ENST00000556250.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 669,
"aa_ref": "P",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3333,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000556036.6",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Pro347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450596.1",
"strand": true,
"transcript": "ENST00000556036.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2066,
"aa_ref": "P",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6356,
"cdna_start": 1133,
"cds_end": null,
"cds_length": 6201,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893235.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Pro347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563294.1",
"strand": true,
"transcript": "ENST00000893235.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2022,
"aa_ref": "P",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7053,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 6069,
"cds_start": 963,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001308133.2",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.963G>A",
"hgvs_p": "p.Pro321Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295062.1",
"strand": true,
"transcript": "NM_001308133.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2009,
"aa_ref": "P",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6216,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 6030,
"cds_start": 924,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000913802.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.924G>A",
"hgvs_p": "p.Pro308Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583861.1",
"strand": true,
"transcript": "ENST00000913802.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1996,
"aa_ref": "P",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6902,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 5991,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000696649.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Pro347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512780.1",
"strand": true,
"transcript": "ENST00000696649.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1964,
"aa_ref": "P",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6061,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 5895,
"cds_start": 963,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000913803.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.963G>A",
"hgvs_p": "p.Pro321Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583862.1",
"strand": true,
"transcript": "ENST00000913803.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1353,
"aa_ref": "P",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4165,
"cdna_start": 984,
"cds_end": null,
"cds_length": 4063,
"cds_start": 882,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696641.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.882G>A",
"hgvs_p": "p.Pro294Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512774.1",
"strand": true,
"transcript": "ENST00000696641.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 669,
"aa_ref": "P",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2131,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001308134.2",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Pro347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295063.1",
"strand": true,
"transcript": "NM_001308134.2",
"transcript_support_level": null
},
{
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"aa_length": 643,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2209,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1932,
"cds_start": 963,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696662.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.963G>A",
"hgvs_p": "p.Pro321Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512788.1",
"strand": true,
"transcript": "ENST00000696662.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 607,
"aa_ref": "P",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 1824,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000696682.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Pro347Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512805.1",
"strand": true,
"transcript": "ENST00000696682.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 541,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000696643.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Pro347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512776.1",
"strand": true,
"transcript": "ENST00000696643.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 2053,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7146,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 6162,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011537034.3",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Pro347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535336.1",
"strand": true,
"transcript": "XM_011537034.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 2027,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7068,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 6084,
"cds_start": 963,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011537035.4",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.963G>A",
"hgvs_p": "p.Pro321Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011535337.1",
"strand": true,
"transcript": "XM_011537035.4",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_start": 1143,
"cds_end": null,
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"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017021523.2",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Pro347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877012.1",
"strand": true,
"transcript": "XM_017021523.2",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5651,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 5406,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047431631.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Pro347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287587.1",
"strand": true,
"transcript": "XM_047431631.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1796,
"aa_ref": "P",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6463,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 5391,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047431632.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Pro347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287588.1",
"strand": true,
"transcript": "XM_047431632.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "P",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5636,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 5391,
"cds_start": 1041,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
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