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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: 16-30025206-G-GGGGCGGCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30025206&ref=G&alt=GGGGCGGCC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 30025206,
"ref": "G",
"alt": "GGGGCGGCC",
"effect": "frameshift_variant",
"transcript": "NM_001352173.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "PGR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"hgvs_c": "c.794_801dupGGCCGCCC",
"hgvs_p": "p.Pro268fs",
"transcript": "NM_031478.6",
"protein_id": "NP_113666.2",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 274,
"cds_start": 801,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380495.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031478.6"
},
{
"aa_ref": "P",
"aa_alt": "PGR?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"hgvs_c": "c.794_801dupGGCCGCCC",
"hgvs_p": "p.Pro268fs",
"transcript": "ENST00000380495.9",
"protein_id": "ENSP00000369863.4",
"transcript_support_level": 1,
"aa_start": 267,
"aa_end": null,
"aa_length": 274,
"cds_start": 801,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031478.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380495.9"
},
{
"aa_ref": "P",
"aa_alt": "PGR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"hgvs_c": "c.644_651dupGGCCGCCC",
"hgvs_p": "p.Pro218fs",
"transcript": "ENST00000279389.8",
"protein_id": "ENSP00000279389.4",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 224,
"cds_start": 651,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000279389.8"
},
{
"aa_ref": "P",
"aa_alt": "PGR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"hgvs_c": "c.1052_1059dupGGCCGCCC",
"hgvs_p": "p.Pro354fs",
"transcript": "NM_001352173.2",
"protein_id": "NP_001339102.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 360,
"cds_start": 1059,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352173.2"
},
{
"aa_ref": "P",
"aa_alt": "PGR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"hgvs_c": "c.791_798dupGGCCGCCC",
"hgvs_p": "p.Pro267fs",
"transcript": "ENST00000934494.1",
"protein_id": "ENSP00000604553.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 273,
"cds_start": 798,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934494.1"
},
{
"aa_ref": "P",
"aa_alt": "PGR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"hgvs_c": "c.644_651dupGGCCGCCC",
"hgvs_p": "p.Pro218fs",
"transcript": "NM_001318504.2",
"protein_id": "NP_001305433.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 224,
"cds_start": 651,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318504.2"
},
{
"aa_ref": "P",
"aa_alt": "PGR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"hgvs_c": "c.899_906dupGGCCGCCC",
"hgvs_p": "p.Pro303fs",
"transcript": "XM_024450464.2",
"protein_id": "XP_024306232.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 309,
"cds_start": 906,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450464.2"
},
{
"aa_ref": "P",
"aa_alt": "PGR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"hgvs_c": "c.794_801dupGGCCGCCC",
"hgvs_p": "p.Pro268fs",
"transcript": "XM_005255613.4",
"protein_id": "XP_005255670.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 274,
"cds_start": 801,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255613.4"
},
{
"aa_ref": "P",
"aa_alt": "PGR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"hgvs_c": "c.794_801dupGGCCGCCC",
"hgvs_p": "p.Pro268fs",
"transcript": "XM_005255614.4",
"protein_id": "XP_005255671.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 274,
"cds_start": 801,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255614.4"
},
{
"aa_ref": "P",
"aa_alt": "PGR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"hgvs_c": "c.794_801dupGGCCGCCC",
"hgvs_p": "p.Pro268fs",
"transcript": "XM_017023750.3",
"protein_id": "XP_016879239.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 274,
"cds_start": 801,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023750.3"
},
{
"aa_ref": "P",
"aa_alt": "PGR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"hgvs_c": "c.794_801dupGGCCGCCC",
"hgvs_p": "p.Pro268fs",
"transcript": "XM_017023751.2",
"protein_id": "XP_016879240.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 274,
"cds_start": 801,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023751.2"
},
{
"aa_ref": "P",
"aa_alt": "PGR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"hgvs_c": "c.794_801dupGGCCGCCC",
"hgvs_p": "p.Pro268fs",
"transcript": "XM_017023752.2",
"protein_id": "XP_016879241.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 274,
"cds_start": 801,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023752.2"
},
{
"aa_ref": "P",
"aa_alt": "PGR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"hgvs_c": "c.794_801dupGGCCGCCC",
"hgvs_p": "p.Pro268fs",
"transcript": "XM_047434736.1",
"protein_id": "XP_047290692.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 274,
"cds_start": 801,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434736.1"
},
{
"aa_ref": "P",
"aa_alt": "PGR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"hgvs_c": "c.644_651dupGGCCGCCC",
"hgvs_p": "p.Pro218fs",
"transcript": "XM_017023754.2",
"protein_id": "XP_016879243.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 224,
"cds_start": 651,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023754.2"
},
{
"aa_ref": "P",
"aa_alt": "PGR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"hgvs_c": "c.644_651dupGGCCGCCC",
"hgvs_p": "p.Pro218fs",
"transcript": "XM_024450466.2",
"protein_id": "XP_024306234.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 224,
"cds_start": 651,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450466.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"hgvs_c": "c.*389_*396dupGGCCGCCC",
"hgvs_p": null,
"transcript": "ENST00000564806.1",
"protein_id": "ENSP00000457769.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564806.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C16orf92",
"gene_hgnc_id": 26346,
"hgvs_c": "c.311+1124_311+1131dupCGGCCGGG",
"hgvs_p": null,
"transcript": "NM_001353379.2",
"protein_id": "NP_001340308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353379.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C16orf92",
"gene_hgnc_id": 26346,
"hgvs_c": "c.248+1124_248+1131dupCGGCCGGG",
"hgvs_p": null,
"transcript": "ENST00000569198.1",
"protein_id": "ENSP00000454560.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": null,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569198.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C16orf92",
"gene_hgnc_id": 26346,
"hgvs_c": "c.133+1325_133+1332dupCGGCCGGG",
"hgvs_p": null,
"transcript": "ENST00000567847.1",
"protein_id": "ENSP00000458048.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 49,
"cds_start": null,
"cds_end": null,
"cds_length": 150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567847.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C16orf92",
"gene_hgnc_id": 26346,
"hgvs_c": "c.289+1325_289+1332dupCGGCCGGG",
"hgvs_p": null,
"transcript": "XM_024450162.2",
"protein_id": "XP_024305930.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": null,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450162.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C16orf92",
"gene_hgnc_id": 26346,
"hgvs_c": "n.537+1124_537+1131dupCGGCCGGG",
"hgvs_p": null,
"transcript": "XR_002957776.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_002957776.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C16orf92",
"gene_hgnc_id": 26346,
"hgvs_c": "n.534+1124_534+1131dupCGGCCGGG",
"hgvs_p": null,
"transcript": "XR_002957777.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_002957777.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C16orf92",
"gene_hgnc_id": 26346,
"hgvs_c": "n.457+1124_457+1131dupCGGCCGGG",
"hgvs_p": null,
"transcript": "XR_002957778.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_002957778.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C16orf92",
"gene_hgnc_id": 26346,
"hgvs_c": "n.454+1124_454+1131dupCGGCCGGG",
"hgvs_p": null,
"transcript": "XR_002957779.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_002957779.2"
}
],
"gene_symbol": "TLCD3B",
"gene_hgnc_id": 25295,
"dbsnp": "rs749432950",
"frequency_reference_population": 0.000034884906,
"hom_count_reference_population": 1,
"allele_count_reference_population": 52,
"gnomad_exomes_af": 0.0000358613,
"gnomad_genomes_af": 0.000026294,
"gnomad_exomes_ac": 48,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.459,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001352173.2",
"gene_symbol": "TLCD3B",
"hgnc_id": 25295,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1052_1059dupGGCCGCCC",
"hgvs_p": "p.Pro354fs"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001353379.2",
"gene_symbol": "C16orf92",
"hgnc_id": 26346,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.311+1124_311+1131dupCGGCCGGG",
"hgvs_p": null
}
],
"clinvar_disease": "Cone-rod dystrophy 22",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Cone-rod dystrophy 22",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}