← Back to variant description
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: 17-49316957-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=49316957&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF652",
"hgnc_id": 29147,
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_014897.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FLJ40194",
"hgnc_id": null,
"hgvs_c": "n.864-634G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000655089.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.7826,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.09,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7580803632736206,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11628,
"cdna_start": 1369,
"cds_end": null,
"cds_length": 1821,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001145365.3",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000430262.3",
"protein_coding": true,
"protein_id": "NP_001138837.1",
"strand": false,
"transcript": "NM_001145365.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11628,
"cdna_start": 1369,
"cds_end": null,
"cds_length": 1821,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000430262.3",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001145365.3",
"protein_coding": true,
"protein_id": "ENSP00000416305.2",
"strand": false,
"transcript": "ENST00000430262.3",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5988,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 1821,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000362063.6",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354686.2",
"strand": false,
"transcript": "ENST00000362063.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 624,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3496,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 1875,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000949719.1",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619778.1",
"strand": false,
"transcript": "ENST00000949719.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11347,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 1821,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_014897.2",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055712.1",
"strand": false,
"transcript": "NM_014897.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3308,
"cdna_start": 1557,
"cds_end": null,
"cds_length": 1821,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899841.1",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569900.1",
"strand": false,
"transcript": "ENST00000899841.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4009,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 1821,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000949717.1",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619776.1",
"strand": false,
"transcript": "ENST00000949717.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3903,
"cdna_start": 1470,
"cds_end": null,
"cds_length": 1821,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000949718.1",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619777.1",
"strand": false,
"transcript": "ENST00000949718.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3039,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 1821,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000949720.1",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619779.1",
"strand": false,
"transcript": "ENST00000949720.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 519,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2852,
"cdna_start": 1391,
"cds_end": null,
"cds_length": 1560,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000899842.1",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569901.1",
"strand": false,
"transcript": "ENST00000899842.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 519,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3302,
"cdna_start": 1132,
"cds_end": null,
"cds_length": 1560,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000949721.1",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619780.1",
"strand": false,
"transcript": "ENST00000949721.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11410,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1821,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_024450653.2",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306421.1",
"strand": false,
"transcript": "XM_024450653.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11496,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 1821,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_024450655.2",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306423.1",
"strand": false,
"transcript": "XM_024450655.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11753,
"cdna_start": 1494,
"cds_end": null,
"cds_length": 1821,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435626.1",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291582.1",
"strand": false,
"transcript": "XM_047435626.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11507,
"cdna_start": 1248,
"cds_end": null,
"cds_length": 1821,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047435627.1",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291583.1",
"strand": false,
"transcript": "XM_047435627.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 426,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2906,
"cdna_start": null,
"cds_end": null,
"cds_length": 1281,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899840.1",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.360+409C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569899.1",
"strand": false,
"transcript": "ENST00000899840.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 426,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2441,
"cdna_start": null,
"cds_end": null,
"cds_length": 1281,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899843.1",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.360+409C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569902.1",
"strand": false,
"transcript": "ENST00000899843.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 426,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": null,
"cds_end": null,
"cds_length": 1281,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899844.1",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.360+409C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569903.1",
"strand": false,
"transcript": "ENST00000899844.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 426,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6330,
"cdna_start": null,
"cds_end": null,
"cds_length": 1281,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923162.1",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.360+409C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593221.1",
"strand": false,
"transcript": "ENST00000923162.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 339,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2211,
"cdna_start": null,
"cds_end": null,
"cds_length": 1020,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923163.1",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.360+409C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593222.1",
"strand": false,
"transcript": "ENST00000923163.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 426,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10870,
"cdna_start": null,
"cds_end": null,
"cds_length": 1281,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024450656.2",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.360+409C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306424.1",
"strand": false,
"transcript": "XM_024450656.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 426,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11088,
"cdna_start": null,
"cds_end": null,
"cds_length": 1281,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435628.1",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.360+409C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291584.1",
"strand": false,
"transcript": "XM_047435628.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 426,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10807,
"cdna_start": null,
"cds_end": null,
"cds_length": 1281,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435629.1",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "c.360+409C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291585.1",
"strand": false,
"transcript": "XM_047435629.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6089,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_934423.3",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "n.1151C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_934423.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4543,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000508237.5",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "n.360+409C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424848.1",
"strand": false,
"transcript": "ENST00000508237.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1189,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000655089.1",
"gene_hgnc_id": null,
"gene_symbol": "FLJ40194",
"hgvs_c": "n.864-634G>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000655089.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4793,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_135579.2",
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"hgvs_c": "n.1084+409C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_135579.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 29147,
"gene_symbol": "ZNF652",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.987,
"pos": 49316957,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.424,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014897.2"
}
]
}