← 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: 16-50711082-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=50711082&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"PM1",
"BP4_Moderate",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NOD2",
"hgnc_id": 5331,
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391Cys",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 2,
"score": -9,
"transcript": "NM_022162.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP4_Moderate,BP6,BS1,BS2",
"acmg_score": -9,
"allele_count_reference_population": 42,
"alphamissense_prediction": null,
"alphamissense_score": 0.0948,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "16",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Blau syndrome,Regional enteritis",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11083441972732544,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "R",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4363,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 3042,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001370466.1",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000647318.2",
"protein_coding": true,
"protein_id": "NP_001357395.1",
"strand": true,
"transcript": "NM_001370466.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "R",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4363,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 3042,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000647318.2",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001370466.1",
"protein_coding": true,
"protein_id": "ENSP00000495993.1",
"strand": true,
"transcript": "ENST00000647318.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "R",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4486,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 3123,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000300589.6",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000300589.2",
"strand": true,
"transcript": "ENST00000300589.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "R",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 3123,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_022162.3",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_071445.1",
"strand": true,
"transcript": "NM_022162.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "R",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4414,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 3042,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001293557.2",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001280486.1",
"strand": true,
"transcript": "NM_001293557.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "R",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4801,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 3042,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951248.1",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621307.1",
"strand": true,
"transcript": "ENST00000951248.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 873,
"aa_ref": "R",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3949,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858093.1",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528152.1",
"strand": true,
"transcript": "ENST00000858093.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 985,
"aa_ref": "R",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4279,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 2958,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006721242.5",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721305.1",
"strand": true,
"transcript": "XM_006721242.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 872,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4379,
"cdna_start": 1171,
"cds_end": null,
"cds_length": 2619,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047434452.1",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Arg223Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290408.1",
"strand": true,
"transcript": "XM_047434452.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 872,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3969,
"cdna_start": 761,
"cds_end": null,
"cds_length": 2619,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047434453.1",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Arg223Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290409.1",
"strand": true,
"transcript": "XM_047434453.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 872,
"aa_ref": "R",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4020,
"cdna_start": 812,
"cds_end": null,
"cds_length": 2619,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047434454.1",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Arg223Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290410.1",
"strand": true,
"transcript": "XM_047434454.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 818,
"aa_ref": "R",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 688,
"cds_end": null,
"cds_length": 2457,
"cds_start": 505,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017023536.2",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879025.1",
"strand": true,
"transcript": "XM_017023536.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 818,
"aa_ref": "R",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3790,
"cdna_start": 582,
"cds_end": null,
"cds_length": 2457,
"cds_start": 505,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017023537.2",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Arg169Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879026.1",
"strand": true,
"transcript": "XM_017023537.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 793,
"aa_ref": "R",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2920,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006721243.5",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721306.1",
"strand": true,
"transcript": "XM_006721243.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 793,
"aa_ref": "R",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2948,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011523260.4",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521562.1",
"strand": true,
"transcript": "XM_011523260.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 793,
"aa_ref": "R",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3283,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011523261.3",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521563.1",
"strand": true,
"transcript": "XM_011523261.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 793,
"aa_ref": "R",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047434455.1",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290411.1",
"strand": true,
"transcript": "XM_047434455.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 793,
"aa_ref": "R",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047434456.1",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290412.1",
"strand": true,
"transcript": "XM_047434456.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 793,
"aa_ref": "R",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047434457.1",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.Arg364Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290413.1",
"strand": true,
"transcript": "XM_047434457.1",
"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": 3830,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000641284.2",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "n.1090C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493088.1",
"strand": true,
"transcript": "ENST00000641284.2",
"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": 4512,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000646677.2",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "n.1090C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496533.1",
"strand": true,
"transcript": "ENST00000646677.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4510,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_163434.1",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "n.1155C>T",
"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": "NR_163434.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3184,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XR_007064894.1",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "n.1155C>T",
"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": "XR_007064894.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2794,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XR_007064895.1",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "n.1155C>T",
"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": "XR_007064895.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1100,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000526417.6",
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"hgvs_c": "n.*131C>T",
"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": "ENST00000526417.6",
"transcript_support_level": 1
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs104895481",
"effect": "missense_variant",
"frequency_reference_population": 0.000026018952,
"gene_hgnc_id": 5331,
"gene_symbol": "NOD2",
"gnomad_exomes_ac": 39,
"gnomad_exomes_af": 0.0000266779,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000196951,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "Blau syndrome|Blau syndrome;Regional enteritis",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.455,
"pos": 50711082,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.241,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_022162.3"
}
]
}