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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: 16-50722681-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=50722681&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 50722681,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000647318.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.2693A>G",
"hgvs_p": "p.Asp898Gly",
"transcript": "NM_001370466.1",
"protein_id": "NP_001357395.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2693,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 2758,
"cdna_end": null,
"cdna_length": 4363,
"mane_select": "ENST00000647318.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.2693A>G",
"hgvs_p": "p.Asp898Gly",
"transcript": "ENST00000647318.2",
"protein_id": "ENSP00000495993.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2693,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 2758,
"cdna_end": null,
"cdna_length": 4363,
"mane_select": "NM_001370466.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.2774A>G",
"hgvs_p": "p.Asp925Gly",
"transcript": "ENST00000300589.6",
"protein_id": "ENSP00000300589.2",
"transcript_support_level": 1,
"aa_start": 925,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2774,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 2879,
"cdna_end": null,
"cdna_length": 4486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Asp136Gly",
"transcript": "ENST00000534057.1",
"protein_id": "ENSP00000437246.1",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 167,
"cds_start": 407,
"cds_end": null,
"cds_length": 505,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "n.*87A>G",
"hgvs_p": null,
"transcript": "ENST00000524712.5",
"protein_id": "ENSP00000464065.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "n.*59A>G",
"hgvs_p": null,
"transcript": "ENST00000527052.5",
"protein_id": "ENSP00000463423.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "n.*171A>G",
"hgvs_p": null,
"transcript": "ENST00000529633.5",
"protein_id": "ENSP00000462443.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "n.*323A>G",
"hgvs_p": null,
"transcript": "ENST00000534067.5",
"protein_id": "ENSP00000463145.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "n.*87A>G",
"hgvs_p": null,
"transcript": "ENST00000524712.5",
"protein_id": "ENSP00000464065.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "n.*59A>G",
"hgvs_p": null,
"transcript": "ENST00000527052.5",
"protein_id": "ENSP00000463423.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "n.*171A>G",
"hgvs_p": null,
"transcript": "ENST00000529633.5",
"protein_id": "ENSP00000462443.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "n.*323A>G",
"hgvs_p": null,
"transcript": "ENST00000534067.5",
"protein_id": "ENSP00000463145.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.2774A>G",
"hgvs_p": "p.Asp925Gly",
"transcript": "NM_022162.3",
"protein_id": "NP_071445.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2774,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 3070,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.2693A>G",
"hgvs_p": "p.Asp898Gly",
"transcript": "NM_001293557.2",
"protein_id": "NP_001280486.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2693,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 2809,
"cdna_end": null,
"cdna_length": 4414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Asp136Gly",
"transcript": "ENST00000697426.1",
"protein_id": "ENSP00000513311.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 167,
"cds_start": 407,
"cds_end": null,
"cds_length": 505,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.2609A>G",
"hgvs_p": "p.Asp870Gly",
"transcript": "XM_006721242.5",
"protein_id": "XP_006721305.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 985,
"cds_start": 2609,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 2674,
"cdna_end": null,
"cdna_length": 4279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.2270A>G",
"hgvs_p": "p.Asp757Gly",
"transcript": "XM_047434452.1",
"protein_id": "XP_047290408.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 872,
"cds_start": 2270,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2774,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.2270A>G",
"hgvs_p": "p.Asp757Gly",
"transcript": "XM_047434453.1",
"protein_id": "XP_047290409.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 872,
"cds_start": 2270,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.2270A>G",
"hgvs_p": "p.Asp757Gly",
"transcript": "XM_047434454.1",
"protein_id": "XP_047290410.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 872,
"cds_start": 2270,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 2415,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.2108A>G",
"hgvs_p": "p.Asp703Gly",
"transcript": "XM_017023536.2",
"protein_id": "XP_016879025.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 818,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 2291,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "c.2108A>G",
"hgvs_p": "p.Asp703Gly",
"transcript": "XM_017023537.2",
"protein_id": "XP_016879026.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 818,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 3790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "n.*458A>G",
"hgvs_p": null,
"transcript": "ENST00000646677.2",
"protein_id": "ENSP00000496533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"hgvs_c": "n.*339A>G",
"hgvs_p": null,
"transcript": "ENST00000697425.1",
"protein_id": "ENSP00000513310.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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{
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},
{
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"transcript": "ENST00000697425.1",
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{
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"gene_symbol": "NOD2",
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"transcript": "XM_047434457.1",
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},
{
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],
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"hgvs_c": "n.2382-7137A>G",
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"transcript": "ENST00000641284.2",
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}
],
"gene_symbol": "NOD2",
"gene_hgnc_id": 5331,
"dbsnp": "rs545734771",
"frequency_reference_population": 0.000023540693,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000184692,
"gnomad_genomes_af": 0.0000722088,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05360099673271179,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.169,
"revel_prediction": "Benign",
"alphamissense_score": 0.0741,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.28,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000647318.2",
"gene_symbol": "NOD2",
"hgnc_id": 5331,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2693A>G",
"hgvs_p": "p.Asp898Gly"
}
],
"clinvar_disease": "Blau syndrome,Inborn genetic diseases,NOD2-related disorder,Regional enteritis,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Blau syndrome;Regional enteritis|Inborn genetic diseases|NOD2-related disorder|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}