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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: 13-98177130-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=98177130&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 98177130,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_178861.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF113B",
"gene_hgnc_id": 17267,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Arg36His",
"transcript": "NM_178861.5",
"protein_id": "NP_849192.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 322,
"cds_start": 107,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267291.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178861.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF113B",
"gene_hgnc_id": 17267,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Arg36His",
"transcript": "ENST00000267291.7",
"protein_id": "ENSP00000267291.6",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 322,
"cds_start": 107,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178861.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267291.7"
},
{
"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+33638C>T",
"hgvs_p": null,
"transcript": "NM_005766.4",
"protein_id": "NP_005757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1045,
"cds_start": null,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000319562.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005766.4"
},
{
"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+33638C>T",
"hgvs_p": null,
"transcript": "ENST00000319562.11",
"protein_id": "ENSP00000322926.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1045,
"cds_start": null,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005766.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319562.11"
},
{
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+34353C>T",
"hgvs_p": null,
"transcript": "ENST00000595437.5",
"protein_id": "ENSP00000471242.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1076,
"cds_start": null,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595437.5"
},
{
"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+33638C>T",
"hgvs_p": null,
"transcript": "ENST00000871505.1",
"protein_id": "ENSP00000541564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1080,
"cds_start": null,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871505.1"
},
{
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+34353C>T",
"hgvs_p": null,
"transcript": "NM_001286839.2",
"protein_id": "NP_001273768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1076,
"cds_start": null,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286839.2"
},
{
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+33638C>T",
"hgvs_p": null,
"transcript": "ENST00000627049.2",
"protein_id": "ENSP00000486285.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1076,
"cds_start": null,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627049.2"
},
{
"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+33638C>T",
"hgvs_p": null,
"transcript": "ENST00000871504.1",
"protein_id": "ENSP00000541563.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1073,
"cds_start": null,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871504.1"
},
{
"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+34353C>T",
"hgvs_p": null,
"transcript": "ENST00000964193.1",
"protein_id": "ENSP00000634252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1073,
"cds_start": null,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964193.1"
},
{
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+33638C>T",
"hgvs_p": null,
"transcript": "ENST00000922579.1",
"protein_id": "ENSP00000592638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": null,
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"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922579.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+33638C>T",
"hgvs_p": null,
"transcript": "ENST00000922580.1",
"protein_id": "ENSP00000592639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1054,
"cds_start": null,
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"cds_length": 3165,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922580.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+34838C>T",
"hgvs_p": null,
"transcript": "ENST00000922581.1",
"protein_id": "ENSP00000592640.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1054,
"cds_start": null,
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"cds_length": 3165,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922581.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+33638C>T",
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"transcript": "ENST00000964194.1",
"protein_id": "ENSP00000634253.1",
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"biotype": "protein_coding",
"feature": "ENST00000964194.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+34838C>T",
"hgvs_p": null,
"transcript": "ENST00000871496.1",
"protein_id": "ENSP00000541555.1",
"transcript_support_level": null,
"aa_start": null,
"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": "ENST00000871496.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+34353C>T",
"hgvs_p": null,
"transcript": "ENST00000871497.1",
"protein_id": "ENSP00000541556.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871497.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-256-23413C>T",
"hgvs_p": null,
"transcript": "ENST00000871500.1",
"protein_id": "ENSP00000541559.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1045,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871500.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+33515C>T",
"hgvs_p": null,
"transcript": "ENST00000871503.1",
"protein_id": "ENSP00000541562.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000871503.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+17532C>T",
"hgvs_p": null,
"transcript": "ENST00000922582.1",
"protein_id": "ENSP00000592641.1",
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"feature": "ENST00000922582.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+33638C>T",
"hgvs_p": null,
"transcript": "ENST00000922584.1",
"protein_id": "ENSP00000592643.1",
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"biotype": "protein_coding",
"feature": "ENST00000922584.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+33638C>T",
"hgvs_p": null,
"transcript": "ENST00000871502.1",
"protein_id": "ENSP00000541561.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871502.1"
},
{
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARP1",
"gene_hgnc_id": 3591,
"hgvs_c": "c.-24+33638C>T",
"hgvs_p": null,
"transcript": "ENST00000922583.1",
"protein_id": "ENSP00000592642.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922583.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
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{
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{
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{
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{
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{
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],
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"gene_symbol": "FARP1",
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"biotype": "pseudogene",
"feature": "ENST00000600648.1"
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],
"gene_symbol": "RNF113B",
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"dbsnp": "rs776956246",
"frequency_reference_population": 0.0000031166708,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
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"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27317288517951965,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": 0.1275,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.623,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_178861.5",
"gene_symbol": "RNF113B",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001286839.2",
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"effects": [
"intron_variant"
],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}