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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: 20-43637268-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=43637268&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 43637268,
"ref": "C",
"alt": "CT",
"effect": "intron_variant",
"transcript": "NM_016004.5",
"consequences": [
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.1120+26dupT",
"hgvs_p": null,
"transcript": "NM_016004.5",
"protein_id": "NP_057088.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": null,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373030.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016004.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.1120+15_1120+16insT",
"hgvs_p": null,
"transcript": "ENST00000373030.8",
"protein_id": "ENSP00000362121.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": null,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016004.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373030.8"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.1219+15_1219+16insT",
"hgvs_p": null,
"transcript": "ENST00000871354.1",
"protein_id": "ENSP00000541413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": null,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871354.1"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.1219+15_1219+16insT",
"hgvs_p": null,
"transcript": "ENST00000871357.1",
"protein_id": "ENSP00000541416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": null,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871357.1"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.1120+26dupT",
"hgvs_p": null,
"transcript": "NM_001303458.3",
"protein_id": "NP_001290387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": null,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303458.3"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.1120+15_1120+16insT",
"hgvs_p": null,
"transcript": "ENST00000373039.4",
"protein_id": "ENSP00000362130.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": null,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373039.4"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.1120+15_1120+16insT",
"hgvs_p": null,
"transcript": "ENST00000932899.1",
"protein_id": "ENSP00000602958.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": null,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932899.1"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.1120+15_1120+16insT",
"hgvs_p": null,
"transcript": "ENST00000932900.1",
"protein_id": "ENSP00000602959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": null,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932900.1"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.1120+15_1120+16insT",
"hgvs_p": null,
"transcript": "ENST00000932902.1",
"protein_id": "ENSP00000602961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": null,
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"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932902.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.1105+15_1105+16insT",
"hgvs_p": null,
"transcript": "ENST00000932898.1",
"protein_id": "ENSP00000602957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": null,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932898.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.1051+15_1051+16insT",
"hgvs_p": null,
"transcript": "ENST00000871360.1",
"protein_id": "ENSP00000541419.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 414,
"cds_start": null,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 11,
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"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.1051+15_1051+16insT",
"hgvs_p": null,
"transcript": "ENST00000970674.1",
"protein_id": "ENSP00000640733.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000970674.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.1048+15_1048+16insT",
"hgvs_p": null,
"transcript": "ENST00000871355.1",
"protein_id": "ENSP00000541414.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "IFT52",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 11,
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"gene_symbol": "IFT52",
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"hgvs_c": "c.1048+15_1048+16insT",
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"transcript": "ENST00000932901.1",
"protein_id": "ENSP00000602960.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "IFT52",
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"feature": "ENST00000932897.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
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"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.1033+15_1033+16insT",
"hgvs_p": null,
"transcript": "ENST00000970675.1",
"protein_id": "ENSP00000640734.1",
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"feature": "ENST00000970675.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.1018+15_1018+16insT",
"hgvs_p": null,
"transcript": "ENST00000871358.1",
"protein_id": "ENSP00000541417.1",
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},
{
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],
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"intron_rank": 11,
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"gene_symbol": "IFT52",
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},
{
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],
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"gene_symbol": "IFT52",
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},
{
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"strand": true,
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"intron_variant"
],
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"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.1120+26dupT",
"hgvs_p": null,
"transcript": "NM_001303459.3",
"protein_id": "NP_001290388.1",
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303459.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"hgvs_c": "c.939+1255_939+1256insT",
"hgvs_p": null,
"transcript": "ENST00000871359.1",
"protein_id": "ENSP00000541418.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871359.1"
},
{
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"protein_coding": true,
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{
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"feature": "NM_001323578.2"
},
{
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"protein_coding": true,
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],
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"gene_symbol": "IFT52",
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"transcript": "NM_001323580.2",
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"biotype": "protein_coding",
"feature": "NM_001323580.2"
},
{
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"protein_coding": true,
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"intron_variant"
],
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"gene_symbol": "IFT52",
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"transcript": "NM_001323579.2",
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},
{
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],
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"gene_symbol": "IFT52",
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"transcript": "NM_001323581.2",
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{
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"feature": "ENST00000461012.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "IFT52",
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"transcript": "ENST00000468420.5",
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"biotype": "pseudogene",
"feature": "ENST00000468420.5"
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],
"gene_symbol": "IFT52",
"gene_hgnc_id": 15901,
"dbsnp": "rs754046046",
"frequency_reference_population": 0.03958014,
"hom_count_reference_population": 11,
"allele_count_reference_population": 44684,
"gnomad_exomes_af": 0.0452297,
"gnomad_genomes_af": 0.00209001,
"gnomad_exomes_ac": 44375,
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"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.088,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_016004.5",
"gene_symbol": "IFT52",
"hgnc_id": 15901,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}