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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: 14-45181671-AT-CC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=45181671&ref=AT&alt=CC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "FANCM",
"hgnc_id": 23168,
"hgvs_c": "c.4352_4353delATinsCC",
"hgvs_p": "p.His1451Pro",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_020937.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2048,
"aa_ref": "H",
"aa_start": 1451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7131,
"cdna_start": 4454,
"cds_end": null,
"cds_length": 6147,
"cds_start": 4352,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020937.4",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.4352_4353delATinsCC",
"hgvs_p": "p.His1451Pro",
"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": "H",
"aa_start": 1451,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7131,
"cdna_start": 4454,
"cds_end": null,
"cds_length": 6147,
"cds_start": 4352,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000267430.10",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.4352_4353delATinsCC",
"hgvs_p": "p.His1451Pro",
"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": "H",
"aa_start": 1425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6167,
"cdna_start": 4352,
"cds_end": null,
"cds_length": 6069,
"cds_start": 4274,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000542564.6",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.4274_4275delATinsCC",
"hgvs_p": "p.His1425Pro",
"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": "H",
"aa_start": 1382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6924,
"cdna_start": 4247,
"cds_end": null,
"cds_length": 5940,
"cds_start": 4145,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556250.6",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.4145_4146delATinsCC",
"hgvs_p": "p.His1382Pro",
"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": 2066,
"aa_ref": "H",
"aa_start": 1469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6356,
"cdna_start": 4498,
"cds_end": null,
"cds_length": 6201,
"cds_start": 4406,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893235.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.4406_4407delATinsCC",
"hgvs_p": "p.His1469Pro",
"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": "H",
"aa_start": 1425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7053,
"cdna_start": 4376,
"cds_end": null,
"cds_length": 6069,
"cds_start": 4274,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001308133.2",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.4274_4275delATinsCC",
"hgvs_p": "p.His1425Pro",
"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": "H",
"aa_start": 1412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6216,
"cdna_start": 4358,
"cds_end": null,
"cds_length": 6030,
"cds_start": 4235,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913802.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.4235_4236delATinsCC",
"hgvs_p": "p.His1412Pro",
"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": "H",
"aa_start": 1399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6902,
"cdna_start": 4225,
"cds_end": null,
"cds_length": 5991,
"cds_start": 4196,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696649.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.4196_4197delATinsCC",
"hgvs_p": "p.His1399Pro",
"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": "H",
"aa_start": 1425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6061,
"cdna_start": 4378,
"cds_end": null,
"cds_length": 5895,
"cds_start": 4274,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913803.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.4274_4275delATinsCC",
"hgvs_p": "p.His1425Pro",
"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": 1658,
"aa_ref": "H",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5812,
"cdna_start": 3169,
"cds_end": null,
"cds_length": 4977,
"cds_start": 3167,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696664.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3167_3168delATinsCC",
"hgvs_p": "p.His1056Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512790.1",
"strand": true,
"transcript": "ENST00000696664.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "H",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5657,
"cdna_start": 3169,
"cds_end": null,
"cds_length": 4773,
"cds_start": 3167,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696683.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3167_3168delATinsCC",
"hgvs_p": "p.His1056Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512806.1",
"strand": true,
"transcript": "ENST00000696683.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1487,
"aa_ref": "H",
"aa_start": 855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4527,
"cdna_start": 2564,
"cds_end": null,
"cds_length": 4464,
"cds_start": 2564,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554809.6",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.2564_2565delATinsCC",
"hgvs_p": "p.His855Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450632.2",
"strand": true,
"transcript": "ENST00000554809.6",
"transcript_support_level": 2
},
{
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"aa_length": 1401,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5178,
"cdna_start": 3169,
"cds_end": null,
"cds_length": 4206,
"cds_start": 3167,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696684.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3167_3168delATinsCC",
"hgvs_p": "p.His1056Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512807.1",
"strand": true,
"transcript": "ENST00000696684.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1128,
"aa_ref": "H",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3783,
"cdna_start": 2350,
"cds_end": null,
"cds_length": 3387,
"cds_start": 2348,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696659.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.2348_2349delATinsCC",
"hgvs_p": "p.His783Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512785.1",
"strand": true,
"transcript": "ENST00000696659.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 572,
"aa_ref": "H",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 130,
"cds_end": null,
"cds_length": 1719,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555484.2",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.128_129delATinsCC",
"hgvs_p": "p.His43Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450797.2",
"strand": true,
"transcript": "ENST00000555484.2",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 508,
"aa_ref": "H",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 130,
"cds_end": null,
"cds_length": 1527,
"cds_start": 128,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696665.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.128_129delATinsCC",
"hgvs_p": "p.His43Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512791.1",
"strand": true,
"transcript": "ENST00000696665.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2053,
"aa_ref": "H",
"aa_start": 1451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7146,
"cdna_start": 4454,
"cds_end": null,
"cds_length": 6162,
"cds_start": 4352,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011537034.3",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.4352_4353delATinsCC",
"hgvs_p": "p.His1451Pro",
"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_ref": "H",
"aa_start": 1425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7068,
"cdna_start": 4376,
"cds_end": null,
"cds_length": 6084,
"cds_start": 4274,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011537035.4",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.4274_4275delATinsCC",
"hgvs_p": "p.His1425Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535337.1",
"strand": true,
"transcript": "XM_011537035.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1801,
"aa_ref": "H",
"aa_start": 1451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6478,
"cdna_start": 4454,
"cds_end": null,
"cds_length": 5406,
"cds_start": 4352,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017021523.2",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.4352_4353delATinsCC",
"hgvs_p": "p.His1451Pro",
"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
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1801,
"aa_ref": "H",
"aa_start": 1451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5651,
"cdna_start": 4454,
"cds_end": null,
"cds_length": 5406,
"cds_start": 4352,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431631.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.4352_4353delATinsCC",
"hgvs_p": "p.His1451Pro",
"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",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "H",
"aa_start": 1451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6463,
"cdna_start": 4454,
"cds_end": null,
"cds_length": 5391,
"cds_start": 4352,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
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