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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: 19-44234942-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44234942&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44234942,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_182490.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Phe171Ser",
"transcript": "NM_182490.3",
"protein_id": "NP_872296.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 799,
"cds_start": 512,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": "ENST00000313040.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182490.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Phe171Ser",
"transcript": "ENST00000313040.12",
"protein_id": "ENSP00000321049.6",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 799,
"cds_start": 512,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": "NM_182490.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313040.12"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Phe171Ser",
"transcript": "NM_001289166.2",
"protein_id": "NP_001276095.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 799,
"cds_start": 512,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289166.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Phe171Ser",
"transcript": "ENST00000621083.4",
"protein_id": "ENSP00000482749.1",
"transcript_support_level": 2,
"aa_start": 171,
"aa_end": null,
"aa_length": 799,
"cds_start": 512,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621083.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Phe171Ser",
"transcript": "ENST00000876872.1",
"protein_id": "ENSP00000546931.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 799,
"cds_start": 512,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 4246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876872.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Phe171Ser",
"transcript": "ENST00000876877.1",
"protein_id": "ENSP00000546936.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 799,
"cds_start": 512,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876877.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Phe171Ser",
"transcript": "ENST00000876880.1",
"protein_id": "ENSP00000546939.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 799,
"cds_start": 512,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876880.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Phe171Ser",
"transcript": "ENST00000876884.1",
"protein_id": "ENSP00000546943.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 799,
"cds_start": 512,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876884.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Phe171Ser",
"transcript": "ENST00000937164.1",
"protein_id": "ENSP00000607223.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 799,
"cds_start": 512,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937164.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Phe171Ser",
"transcript": "ENST00000966994.1",
"protein_id": "ENSP00000637053.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 799,
"cds_start": 512,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966994.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Phe164Ser",
"transcript": "ENST00000876874.1",
"protein_id": "ENSP00000546933.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 792,
"cds_start": 491,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876874.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Phe164Ser",
"transcript": "ENST00000876876.1",
"protein_id": "ENSP00000546935.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 792,
"cds_start": 491,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876876.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Phe164Ser",
"transcript": "ENST00000876878.1",
"protein_id": "ENSP00000546937.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 792,
"cds_start": 491,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 3164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876878.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Phe164Ser",
"transcript": "ENST00000876879.1",
"protein_id": "ENSP00000546938.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 792,
"cds_start": 491,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876879.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Phe164Ser",
"transcript": "ENST00000876883.1",
"protein_id": "ENSP00000546942.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 792,
"cds_start": 491,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876883.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Phe164Ser",
"transcript": "ENST00000966993.1",
"protein_id": "ENSP00000637052.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 792,
"cds_start": 491,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 3504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966993.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.428T>C",
"hgvs_p": "p.Phe143Ser",
"transcript": "NM_001289173.2",
"protein_id": "NP_001276102.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 771,
"cds_start": 428,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289173.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.428T>C",
"hgvs_p": "p.Phe143Ser",
"transcript": "ENST00000876873.1",
"protein_id": "ENSP00000546932.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 771,
"cds_start": 428,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876873.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.428T>C",
"hgvs_p": "p.Phe143Ser",
"transcript": "ENST00000876875.1",
"protein_id": "ENSP00000546934.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 771,
"cds_start": 428,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876875.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.428T>C",
"hgvs_p": "p.Phe143Ser",
"transcript": "ENST00000876881.1",
"protein_id": "ENSP00000546940.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 771,
"cds_start": 428,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876881.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.428T>C",
"hgvs_p": "p.Phe143Ser",
"transcript": "ENST00000876882.1",
"protein_id": "ENSP00000546941.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 771,
"cds_start": 428,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876882.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF227",
"gene_hgnc_id": 13020,
"hgvs_c": "c.428T>C",
"hgvs_p": "p.Phe143Ser",
"transcript": "ENST00000966992.1",
"protein_id": "ENSP00000637051.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 771,
"cds_start": 428,
"cds_end": null,
"cds_length": 2316,
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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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},
{
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],
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{
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],
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"biotype": "pseudogene",
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],
"gene_symbol": "ZNF227",
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"dbsnp": "rs370304805",
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"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02254462242126465,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.85,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_182490.3",
"gene_symbol": "ZNF227",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.512T>C",
"hgvs_p": "p.Phe171Ser"
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{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000592844.5",
"gene_symbol": "ZNF235",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007067266.1",
"gene_symbol": "LOC124904726",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-98A>G",
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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
}