← Back to variant description
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: 14-45176050-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=45176050&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FANCM",
"hgnc_id": 23168,
"hgvs_c": "c.3296G>A",
"hgvs_p": "p.Arg1099His",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_020937.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_score": -9,
"allele_count_reference_population": 465,
"alphamissense_prediction": null,
"alphamissense_score": 0.0562,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "14",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Aplastic anemia,FANCM-related disorder,Fanconi anemia,Fanconi anemia complementation group A,Hereditary cancer-predisposing syndrome,Premature ovarian failure 15,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00431370735168457,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2048,
"aa_ref": "R",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7131,
"cdna_start": 3398,
"cds_end": null,
"cds_length": 6147,
"cds_start": 3296,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_020937.4",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3296G>A",
"hgvs_p": "p.Arg1099His",
"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": "H",
"aa_end": null,
"aa_length": 2048,
"aa_ref": "R",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7131,
"cdna_start": 3398,
"cds_end": null,
"cds_length": 6147,
"cds_start": 3296,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000267430.10",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3296G>A",
"hgvs_p": "p.Arg1099His",
"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": "H",
"aa_end": null,
"aa_length": 2022,
"aa_ref": "R",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6167,
"cdna_start": 3296,
"cds_end": null,
"cds_length": 6069,
"cds_start": 3218,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000542564.6",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3218G>A",
"hgvs_p": "p.Arg1073His",
"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": "H",
"aa_end": null,
"aa_length": 1979,
"aa_ref": "R",
"aa_start": 1030,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6924,
"cdna_start": 3191,
"cds_end": null,
"cds_length": 5940,
"cds_start": 3089,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000556250.6",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3089G>A",
"hgvs_p": "p.Arg1030His",
"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": "H",
"aa_end": null,
"aa_length": 2066,
"aa_ref": "R",
"aa_start": 1117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6356,
"cdna_start": 3442,
"cds_end": null,
"cds_length": 6201,
"cds_start": 3350,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000893235.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3350G>A",
"hgvs_p": "p.Arg1117His",
"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": "H",
"aa_end": null,
"aa_length": 2022,
"aa_ref": "R",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7053,
"cdna_start": 3320,
"cds_end": null,
"cds_length": 6069,
"cds_start": 3218,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001308133.2",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3218G>A",
"hgvs_p": "p.Arg1073His",
"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": "H",
"aa_end": null,
"aa_length": 2009,
"aa_ref": "R",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6216,
"cdna_start": 3302,
"cds_end": null,
"cds_length": 6030,
"cds_start": 3179,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000913802.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3179G>A",
"hgvs_p": "p.Arg1060His",
"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": "H",
"aa_end": null,
"aa_length": 1996,
"aa_ref": "R",
"aa_start": 1047,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6902,
"cdna_start": 3169,
"cds_end": null,
"cds_length": 5991,
"cds_start": 3140,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000696649.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3140G>A",
"hgvs_p": "p.Arg1047His",
"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": "H",
"aa_end": null,
"aa_length": 1964,
"aa_ref": "R",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6061,
"cdna_start": 3322,
"cds_end": null,
"cds_length": 5895,
"cds_start": 3218,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000913803.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3218G>A",
"hgvs_p": "p.Arg1073His",
"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": "H",
"aa_end": null,
"aa_length": 1658,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5812,
"cdna_start": 2113,
"cds_end": null,
"cds_length": 4977,
"cds_start": 2111,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000696664.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.2111G>A",
"hgvs_p": "p.Arg704His",
"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": "H",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5657,
"cdna_start": 2113,
"cds_end": null,
"cds_length": 4773,
"cds_start": 2111,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000696683.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.2111G>A",
"hgvs_p": "p.Arg704His",
"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": "H",
"aa_end": null,
"aa_length": 1487,
"aa_ref": "R",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4527,
"cdna_start": 1508,
"cds_end": null,
"cds_length": 4464,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000554809.6",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Arg503His",
"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
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5178,
"cdna_start": 2113,
"cds_end": null,
"cds_length": 4206,
"cds_start": 2111,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000696684.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.2111G>A",
"hgvs_p": "p.Arg704His",
"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": "H",
"aa_end": null,
"aa_length": 1353,
"aa_ref": "R",
"aa_start": 1046,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4165,
"cdna_start": 3239,
"cds_end": null,
"cds_length": 4063,
"cds_start": 3137,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000696641.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3137G>A",
"hgvs_p": "p.Arg1046His",
"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": "H",
"aa_end": null,
"aa_length": 1128,
"aa_ref": "R",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3783,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 3387,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000696659.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Arg431His",
"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": "H",
"aa_end": null,
"aa_length": 2053,
"aa_ref": "R",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7146,
"cdna_start": 3398,
"cds_end": null,
"cds_length": 6162,
"cds_start": 3296,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011537034.3",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3296G>A",
"hgvs_p": "p.Arg1099His",
"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": "H",
"aa_end": null,
"aa_length": 2027,
"aa_ref": "R",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7068,
"cdna_start": 3320,
"cds_end": null,
"cds_length": 6084,
"cds_start": 3218,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011537035.4",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3218G>A",
"hgvs_p": "p.Arg1073His",
"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": "H",
"aa_end": null,
"aa_length": 1801,
"aa_ref": "R",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6478,
"cdna_start": 3398,
"cds_end": null,
"cds_length": 5406,
"cds_start": 3296,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017021523.2",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3296G>A",
"hgvs_p": "p.Arg1099His",
"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": "H",
"aa_end": null,
"aa_length": 1801,
"aa_ref": "R",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5651,
"cdna_start": 3398,
"cds_end": null,
"cds_length": 5406,
"cds_start": 3296,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047431631.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3296G>A",
"hgvs_p": "p.Arg1099His",
"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": "H",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "R",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6463,
"cdna_start": 3398,
"cds_end": null,
"cds_length": 5391,
"cds_start": 3296,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047431632.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3296G>A",
"hgvs_p": "p.Arg1099His",
"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": "H",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "R",
"aa_start": 1099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5636,
"cdna_start": 3398,
"cds_end": null,
"cds_length": 5391,
"cds_start": 3296,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047431633.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.3296G>A",
"hgvs_p": "p.Arg1099His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287589.1",
"strand": true,
"transcript": "XM_047431633.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1658,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5948,
"cdna_start": 2200,
"cds_end": null,
"cds_length": 4977,
"cds_start": 2111,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047431634.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.2111G>A",
"hgvs_p": "p.Arg704His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287590.1",
"strand": true,
"transcript": "XM_047431634.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1391,
"aa_ref": "R",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5617,
"cdna_start": 1869,
"cds_end": null,
"cds_length": 4176,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011537037.4",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535339.1",
"strand": true,
"transcript": "XM_011537037.4",
"transcript_support_level": null
},
{
"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": 5246,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000696642.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "n.*2107G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512775.1",
"strand": true,
"transcript": "ENST00000696642.1",
"transcript_support_level": null
},
{
"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": 4103,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000696646.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "n.*2107G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512777.1",
"strand": true,
"transcript": "ENST00000696646.1",
"transcript_support_level": null
},
{
"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": 6106,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000696647.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "n.3296G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512778.1",
"strand": true,
"transcript": "ENST00000696647.1",
"transcript_support_level": null
},
{
"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": 6349,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000696648.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "n.*1321G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512779.1",
"strand": true,
"transcript": "ENST00000696648.1",
"transcript_support_level": null
},
{
"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": 5875,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000696650.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "n.3244G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000696650.1",
"transcript_support_level": null
},
{
"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": 5907,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000696663.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "n.2111G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512789.1",
"strand": true,
"transcript": "ENST00000696663.1",
"transcript_support_level": null
},
{
"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": 6313,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000696675.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "n.3296G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512799.1",
"strand": true,
"transcript": "ENST00000696675.1",
"transcript_support_level": null
},
{
"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": 5847,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000696685.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "n.2111G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512808.1",
"strand": true,
"transcript": "ENST00000696685.1",
"transcript_support_level": null
},
{
"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": 5246,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000696642.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "n.*2107G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512775.1",
"strand": true,
"transcript": "ENST00000696642.1",
"transcript_support_level": null
},
{
"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": 4103,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000696646.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "n.*2107G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512777.1",
"strand": true,
"transcript": "ENST00000696646.1",
"transcript_support_level": null
},
{
"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": 6349,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000696648.1",
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"hgvs_c": "n.*1321G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512779.1",
"strand": true,
"transcript": "ENST00000696648.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs139382267",
"effect": "missense_variant",
"frequency_reference_population": 0.00028810767,
"gene_hgnc_id": 23168,
"gene_symbol": "FANCM",
"gnomad_exomes_ac": 341,
"gnomad_exomes_af": 0.000233284,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 124,
"gnomad_genomes_af": 0.000814482,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Fanconi anemia|Fanconi anemia complementation group A|not specified|Hereditary cancer-predisposing syndrome|not provided|Premature ovarian failure 15|FANCM-related disorder|Aplastic anemia",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.868,
"pos": 45176050,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.067,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020937.4"
}
]
}