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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: 19-36719962-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36719962&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36719962,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000682579.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "I",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001322917.1",
"protein_id": "NP_001309846.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": "ENST00000682579.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "ENST00000682579.1",
"protein_id": "ENSP00000507048.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": "NM_001322917.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Arg382Ile",
"transcript": "ENST00000360729.8",
"protein_id": "ENSP00000353957.3",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 616,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Arg382Ile",
"transcript": "ENST00000585696.5",
"protein_id": "ENSP00000467379.1",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 616,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 2375,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1307G>T",
"hgvs_p": "p.Arg436Ile",
"transcript": "NM_001387759.1",
"protein_id": "NP_001374688.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 670,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001300979.2",
"protein_id": "NP_001287908.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001322913.1",
"protein_id": "NP_001309842.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001322914.1",
"protein_id": "NP_001309843.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001322915.1",
"protein_id": "NP_001309844.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001322916.1",
"protein_id": "NP_001309845.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 2798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001322918.1",
"protein_id": "NP_001309847.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001322919.1",
"protein_id": "NP_001309848.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001322920.1",
"protein_id": "NP_001309849.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001387760.1",
"protein_id": "NP_001374689.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
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"cds_length": 1944,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001387761.1",
"protein_id": "NP_001374690.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 2501,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001387762.1",
"protein_id": "NP_001374691.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
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"cdna_start": 2652,
"cdna_end": null,
"cdna_length": 4026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001387763.1",
"protein_id": "NP_001374692.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 2753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001387764.1",
"protein_id": "NP_001374693.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001387765.1",
"protein_id": "NP_001374694.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
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"cdna_start": 1561,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001387766.1",
"protein_id": "NP_001374695.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
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"cdna_start": 1672,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001387767.1",
"protein_id": "NP_001374696.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
"transcript": "NM_001387768.1",
"protein_id": "NP_001374697.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 647,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"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": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Ile",
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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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"gene_symbol": "ZNF567",
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"transcript": "ENST00000591308.1",
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"feature": null
}
],
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"dbsnp": "rs930049307",
"frequency_reference_population": 0.0000041043772,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410438,
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"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41365596652030945,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.188,
"revel_prediction": "Benign",
"alphamissense_score": 0.8606,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.208,
"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": 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": "ENST00000682579.1",
"gene_symbol": "ZNF567",
"hgnc_id": 28696,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1238G>T",
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},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000589390.5",
"gene_symbol": "ZNF850",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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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
}