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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: 19-56423803-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=56423803&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 56423803,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152478.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Cys382Phe",
"transcript": "NM_152478.3",
"protein_id": "NP_689691.2",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 569,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333201.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152478.3"
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Cys382Phe",
"transcript": "ENST00000333201.13",
"protein_id": "ENSP00000388502.2",
"transcript_support_level": 2,
"aa_start": 382,
"aa_end": null,
"aa_length": 569,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152478.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333201.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "n.653+1G>T",
"hgvs_p": null,
"transcript": "ENST00000585612.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000585612.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1148G>T",
"hgvs_p": "p.Cys383Phe",
"transcript": "ENST00000890730.1",
"protein_id": "ENSP00000560789.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 570,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890730.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1148G>T",
"hgvs_p": "p.Cys383Phe",
"transcript": "ENST00000969490.1",
"protein_id": "ENSP00000639549.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 570,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969490.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Cys382Phe",
"transcript": "NM_001159860.2",
"protein_id": "NP_001153332.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 569,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159860.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Cys382Phe",
"transcript": "NM_001159861.2",
"protein_id": "NP_001153333.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 569,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159861.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Cys382Phe",
"transcript": "ENST00000291598.11",
"protein_id": "ENSP00000291598.7",
"transcript_support_level": 3,
"aa_start": 382,
"aa_end": null,
"aa_length": 569,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291598.11"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Cys382Phe",
"transcript": "ENST00000890731.1",
"protein_id": "ENSP00000560790.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 569,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890731.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Cys382Phe",
"transcript": "ENST00000890732.1",
"protein_id": "ENSP00000560791.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 569,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890732.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Cys382Phe",
"transcript": "ENST00000890733.1",
"protein_id": "ENSP00000560792.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 569,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890733.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Cys382Phe",
"transcript": "ENST00000923222.1",
"protein_id": "ENSP00000593281.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 569,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923222.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Cys382Phe",
"transcript": "ENST00000969491.1",
"protein_id": "ENSP00000639550.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 569,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969491.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1049G>T",
"hgvs_p": "p.Cys350Phe",
"transcript": "ENST00000923221.1",
"protein_id": "ENSP00000593280.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 537,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923221.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1148G>T",
"hgvs_p": "p.Cys383Phe",
"transcript": "XM_005258558.2",
"protein_id": "XP_005258615.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 570,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258558.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1148G>T",
"hgvs_p": "p.Cys383Phe",
"transcript": "XM_017026346.3",
"protein_id": "XP_016881835.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 570,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026346.3"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1148G>T",
"hgvs_p": "p.Cys383Phe",
"transcript": "XM_017026347.3",
"protein_id": "XP_016881836.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 570,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026347.3"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1148G>T",
"hgvs_p": "p.Cys383Phe",
"transcript": "XM_017026348.2",
"protein_id": "XP_016881837.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 570,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026348.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1148G>T",
"hgvs_p": "p.Cys383Phe",
"transcript": "XM_017026349.2",
"protein_id": "XP_016881838.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 570,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026349.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1148G>T",
"hgvs_p": "p.Cys383Phe",
"transcript": "XM_047438234.1",
"protein_id": "XP_047294190.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 570,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438234.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1148G>T",
"hgvs_p": "p.Cys383Phe",
"transcript": "XM_047438235.1",
"protein_id": "XP_047294191.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 570,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438235.1"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Cys382Phe",
"transcript": "XM_011526517.3",
"protein_id": "XP_011524819.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 569,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526517.3"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
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"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Cys382Phe",
"transcript": "XM_017026350.2",
"protein_id": "XP_016881839.1",
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"aa_start": 382,
"aa_end": null,
"aa_length": 569,
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"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026350.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Cys382Phe",
"transcript": "XM_024451383.2",
"protein_id": "XP_024307151.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 569,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451383.2"
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "ZNF583",
"gene_hgnc_id": 26427,
"hgvs_c": "c.1016G>T",
"hgvs_p": "p.Cys339Phe",
"transcript": "XM_047438236.1",
"protein_id": "XP_047294192.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 526,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438236.1"
}
],
"gene_symbol": "ZNF583",
"gene_hgnc_id": 26427,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8481167554855347,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.763,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8277,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.886,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152478.3",
"gene_symbol": "ZNF583",
"hgnc_id": 26427,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1145G>T",
"hgvs_p": "p.Cys382Phe"
}
],
"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
}