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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: 8-89935600-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=89935600&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 89935600,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000265433.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2247T>C",
"hgvs_p": "p.Tyr749Tyr",
"transcript": "NM_002485.5",
"protein_id": "NP_002476.2",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 754,
"cds_start": 2247,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": "ENST00000265433.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2247T>C",
"hgvs_p": "p.Tyr749Tyr",
"transcript": "ENST00000265433.8",
"protein_id": "ENSP00000265433.4",
"transcript_support_level": 1,
"aa_start": 749,
"aa_end": null,
"aa_length": 754,
"cds_start": 2247,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": "NM_002485.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2197T>C",
"hgvs_p": "p.Phe733Leu",
"transcript": "ENST00000697309.1",
"protein_id": "ENSP00000513244.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 782,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 4409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2298T>C",
"hgvs_p": "p.Tyr766Tyr",
"transcript": "ENST00000697293.1",
"protein_id": "ENSP00000513230.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 771,
"cds_start": 2298,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 7028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2247T>C",
"hgvs_p": "p.Tyr749Tyr",
"transcript": "ENST00000697292.1",
"protein_id": "ENSP00000513229.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 754,
"cds_start": 2247,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2247T>C",
"hgvs_p": "p.Tyr749Tyr",
"transcript": "ENST00000697310.1",
"protein_id": "ENSP00000513245.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 754,
"cds_start": 2247,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2368,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2178T>C",
"hgvs_p": "p.Tyr726Tyr",
"transcript": "ENST00000697308.1",
"protein_id": "ENSP00000513243.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 731,
"cds_start": 2178,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 5900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2022T>C",
"hgvs_p": "p.Tyr674Tyr",
"transcript": "ENST00000697307.1",
"protein_id": "ENSP00000513242.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 679,
"cds_start": 2022,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2132,
"cdna_end": null,
"cdna_length": 5744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2001T>C",
"hgvs_p": "p.Tyr667Tyr",
"transcript": "NM_001024688.3",
"protein_id": "NP_001019859.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 672,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2403,
"cdna_end": null,
"cdna_length": 4672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2001T>C",
"hgvs_p": "p.Tyr667Tyr",
"transcript": "NM_001440379.1",
"protein_id": "NP_001427308.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 672,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2274,
"cdna_end": null,
"cdna_length": 4543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2001T>C",
"hgvs_p": "p.Tyr667Tyr",
"transcript": "NM_001440380.1",
"protein_id": "NP_001427309.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 672,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2001T>C",
"hgvs_p": "p.Tyr667Tyr",
"transcript": "ENST00000409330.5",
"protein_id": "ENSP00000386924.1",
"transcript_support_level": 5,
"aa_start": 667,
"aa_end": null,
"aa_length": 672,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2407,
"cdna_end": null,
"cdna_length": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2001T>C",
"hgvs_p": "p.Tyr667Tyr",
"transcript": "ENST00000517337.2",
"protein_id": "ENSP00000429971.2",
"transcript_support_level": 4,
"aa_start": 667,
"aa_end": null,
"aa_length": 672,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 6895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2001T>C",
"hgvs_p": "p.Tyr667Tyr",
"transcript": "ENST00000523444.2",
"protein_id": "ENSP00000428252.2",
"transcript_support_level": 4,
"aa_start": 667,
"aa_end": null,
"aa_length": 672,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2460,
"cdna_end": null,
"cdna_length": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2001T>C",
"hgvs_p": "p.Tyr667Tyr",
"transcript": "ENST00000697298.1",
"protein_id": "ENSP00000513234.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 672,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2586,
"cdna_end": null,
"cdna_length": 7186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2001T>C",
"hgvs_p": "p.Tyr667Tyr",
"transcript": "ENST00000697299.1",
"protein_id": "ENSP00000513235.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 672,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2219,
"cdna_end": null,
"cdna_length": 6819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1935T>C",
"hgvs_p": "p.Tyr645Tyr",
"transcript": "ENST00000697304.1",
"protein_id": "ENSP00000513240.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 650,
"cds_start": 1935,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 2045,
"cdna_end": null,
"cdna_length": 6645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.357T>C",
"hgvs_p": "p.Tyr119Tyr",
"transcript": "ENST00000613033.1",
"protein_id": "ENSP00000484487.1",
"transcript_support_level": 3,
"aa_start": 119,
"aa_end": null,
"aa_length": 124,
"cds_start": 357,
"cds_end": null,
"cds_length": 375,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1368T>C",
"hgvs_p": "p.Tyr456Tyr",
"transcript": "XM_047421795.1",
"protein_id": "XP_047277751.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 461,
"cds_start": 1368,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 4219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "n.*2120T>C",
"hgvs_p": null,
"transcript": "ENST00000396252.6",
"protein_id": "ENSP00000379551.2",
"transcript_support_level": 5,
"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": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "n.3667T>C",
"hgvs_p": null,
"transcript": "ENST00000474821.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 5661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "n.3549T>C",
"hgvs_p": null,
"transcript": "ENST00000494804.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 8149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "n.*1858T>C",
"hgvs_p": null,
"transcript": "ENST00000697294.1",
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"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "n.*1700T>C",
"hgvs_p": null,
"transcript": "ENST00000697312.1",
"protein_id": "ENSP00000513247.1",
"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": 4301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "n.*151T>C",
"hgvs_p": null,
"transcript": "ENST00000697315.1",
"protein_id": "ENSP00000513248.1",
"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": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"dbsnp": "rs762740478",
"frequency_reference_population": 0.0000054917145,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000549171,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.49,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000265433.8",
"gene_symbol": "NBN",
"hgnc_id": 7652,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2247T>C",
"hgvs_p": "p.Tyr749Tyr"
}
],
"clinvar_disease": " normal intelligence and immunodeficiency,Acute lymphoid leukemia,Hereditary cancer-predisposing syndrome,Microcephaly,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:1",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Acute lymphoid leukemia|not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}