← 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: X-53194958-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53194958&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "KDM5C",
"hgnc_id": 11114,
"hgvs_c": "c.3411G>A",
"hgvs_p": "p.Ala1137Ala",
"inheritance_mode": "XL",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_004187.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 129,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"chr": "X",
"clinvar_classification": "Benign",
"clinvar_disease": "Spastic paraplegia,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7200000286102295,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1560,
"aa_ref": "A",
"aa_start": 1137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5810,
"cdna_start": 3729,
"cds_end": null,
"cds_length": 4683,
"cds_start": 3411,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_004187.5",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3411G>A",
"hgvs_p": "p.Ala1137Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375401.8",
"protein_coding": true,
"protein_id": "NP_004178.2",
"strand": false,
"transcript": "NM_004187.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1560,
"aa_ref": "A",
"aa_start": 1137,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5810,
"cdna_start": 3729,
"cds_end": null,
"cds_length": 4683,
"cds_start": 3411,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000375401.8",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3411G>A",
"hgvs_p": "p.Ala1137Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004187.5",
"protein_coding": true,
"protein_id": "ENSP00000364550.4",
"strand": false,
"transcript": "ENST00000375401.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1559,
"aa_ref": "A",
"aa_start": 1136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5677,
"cdna_start": 3695,
"cds_end": null,
"cds_length": 4680,
"cds_start": 3408,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000404049.7",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3408G>A",
"hgvs_p": "p.Ala1136Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385394.3",
"strand": false,
"transcript": "ENST00000404049.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1594,
"aa_ref": "A",
"aa_start": 1171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5937,
"cdna_start": 3856,
"cds_end": null,
"cds_length": 4785,
"cds_start": 3513,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000935430.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3513G>A",
"hgvs_p": "p.Ala1171Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605489.1",
"strand": false,
"transcript": "ENST00000935430.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1559,
"aa_ref": "A",
"aa_start": 1136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5807,
"cdna_start": 3726,
"cds_end": null,
"cds_length": 4680,
"cds_start": 3408,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001282622.3",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3408G>A",
"hgvs_p": "p.Ala1136Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269551.1",
"strand": false,
"transcript": "NM_001282622.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1557,
"aa_ref": "A",
"aa_start": 1137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5801,
"cdna_start": 3729,
"cds_end": null,
"cds_length": 4674,
"cds_start": 3411,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001353978.3",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3411G>A",
"hgvs_p": "p.Ala1137Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340907.1",
"strand": false,
"transcript": "NM_001353978.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1557,
"aa_ref": "A",
"aa_start": 1137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5245,
"cdna_start": 3944,
"cds_end": null,
"cds_length": 4674,
"cds_start": 3411,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000375379.7",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3411G>A",
"hgvs_p": "p.Ala1137Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364528.3",
"strand": false,
"transcript": "ENST00000375379.7",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1556,
"aa_ref": "A",
"aa_start": 1136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6661,
"cdna_start": 3752,
"cds_end": null,
"cds_length": 4671,
"cds_start": 3408,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000861450.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3408G>A",
"hgvs_p": "p.Ala1136Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531509.1",
"strand": false,
"transcript": "ENST00000861450.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1534,
"aa_ref": "A",
"aa_start": 1111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5732,
"cdna_start": 3651,
"cds_end": null,
"cds_length": 4605,
"cds_start": 3333,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000861452.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3333G>A",
"hgvs_p": "p.Ala1111Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531511.1",
"strand": false,
"transcript": "ENST00000861452.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1534,
"aa_ref": "A",
"aa_start": 1111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5730,
"cdna_start": 3651,
"cds_end": null,
"cds_length": 4605,
"cds_start": 3333,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000935431.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3333G>A",
"hgvs_p": "p.Ala1111Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605490.1",
"strand": false,
"transcript": "ENST00000935431.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1533,
"aa_ref": "A",
"aa_start": 1110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5665,
"cdna_start": 3670,
"cds_end": null,
"cds_length": 4602,
"cds_start": 3330,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000861453.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3330G>A",
"hgvs_p": "p.Ala1110Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531512.1",
"strand": false,
"transcript": "ENST00000861453.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "A",
"aa_start": 1111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5640,
"cdna_start": 3654,
"cds_end": null,
"cds_length": 4596,
"cds_start": 3333,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000861454.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3333G>A",
"hgvs_p": "p.Ala1111Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531513.1",
"strand": false,
"transcript": "ENST00000861454.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1530,
"aa_ref": "A",
"aa_start": 1110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6571,
"cdna_start": 3664,
"cds_end": null,
"cds_length": 4593,
"cds_start": 3330,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000861451.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3330G>A",
"hgvs_p": "p.Ala1110Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531510.1",
"strand": false,
"transcript": "ENST00000861451.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "A",
"aa_start": 1096,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5122,
"cdna_start": 3821,
"cds_end": null,
"cds_length": 4551,
"cds_start": 3288,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000375383.7",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3288G>A",
"hgvs_p": "p.Ala1096Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364532.3",
"strand": false,
"transcript": "ENST00000375383.7",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "A",
"aa_start": 1136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": 3726,
"cds_end": null,
"cds_length": 4356,
"cds_start": 3408,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001353979.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3408G>A",
"hgvs_p": "p.Ala1136Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340908.1",
"strand": false,
"transcript": "NM_001353979.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "A",
"aa_start": 1137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4807,
"cdna_start": 3715,
"cds_end": null,
"cds_length": 4353,
"cds_start": 3411,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000691505.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3411G>A",
"hgvs_p": "p.Ala1137Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510354.1",
"strand": false,
"transcript": "ENST00000691505.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1449,
"aa_ref": "A",
"aa_start": 1137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4972,
"cdna_start": 3729,
"cds_end": null,
"cds_length": 4350,
"cds_start": 3411,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001353981.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3411G>A",
"hgvs_p": "p.Ala1137Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340910.1",
"strand": false,
"transcript": "NM_001353981.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1449,
"aa_ref": "A",
"aa_start": 1137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4989,
"cdna_start": 3746,
"cds_end": null,
"cds_length": 4350,
"cds_start": 3411,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000685641.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3411G>A",
"hgvs_p": "p.Ala1137Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509818.1",
"strand": false,
"transcript": "ENST00000685641.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1448,
"aa_ref": "A",
"aa_start": 1136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4969,
"cdna_start": 3726,
"cds_end": null,
"cds_length": 4347,
"cds_start": 3408,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001353982.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3408G>A",
"hgvs_p": "p.Ala1136Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340911.1",
"strand": false,
"transcript": "NM_001353982.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1444,
"aa_ref": "A",
"aa_start": 1137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4928,
"cdna_start": 3729,
"cds_end": null,
"cds_length": 4335,
"cds_start": 3411,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001353984.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3411G>A",
"hgvs_p": "p.Ala1137Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340913.1",
"strand": false,
"transcript": "NM_001353984.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1444,
"aa_ref": "A",
"aa_start": 1137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5170,
"cdna_start": 3730,
"cds_end": null,
"cds_length": 4335,
"cds_start": 3411,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000688699.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3411G>A",
"hgvs_p": "p.Ala1137Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510430.1",
"strand": false,
"transcript": "ENST00000688699.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1379,
"aa_ref": "A",
"aa_start": 1070,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5044,
"cdna_start": 3528,
"cds_end": null,
"cds_length": 4140,
"cds_start": 3210,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001146702.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3210G>A",
"hgvs_p": "p.Ala1070Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001140174.1",
"strand": false,
"transcript": "NM_001146702.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1379,
"aa_ref": "A",
"aa_start": 1070,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6096,
"cdna_start": 3743,
"cds_end": null,
"cds_length": 4140,
"cds_start": 3210,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000452825.7",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.3210G>A",
"hgvs_p": "p.Ala1070Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445176.1",
"strand": false,
"transcript": "ENST00000452825.7",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "A",
"aa_start": 972,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4512,
"cdna_start": 3323,
"cds_end": null,
"cds_length": 3867,
"cds_start": 2916,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000693277.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "c.2916G>A",
"hgvs_p": "p.Ala972Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510522.1",
"strand": false,
"transcript": "ENST00000693277.1",
"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": 4749,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000685423.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "n.3411G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508806.1",
"strand": false,
"transcript": "ENST00000685423.1",
"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": 5061,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000687695.1",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "n.3408G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508631.1",
"strand": false,
"transcript": "ENST00000687695.1",
"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": 5063,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NR_148672.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "n.3729G>A",
"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": "NR_148672.2",
"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": 5051,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NR_148673.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "n.3726G>A",
"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": "NR_148673.2",
"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": 4931,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NR_148674.2",
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"hgvs_c": "n.3606G>A",
"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": "NR_148674.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs142690298",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000106684136,
"gene_hgnc_id": 11114,
"gene_symbol": "KDM5C",
"gnomad_exomes_ac": 79,
"gnomad_exomes_af": 0.0000719697,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 50,
"gnomad_genomes_af": 0.000448459,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 39,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided|Spastic paraplegia",
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.377,
"pos": 53194958,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004187.5"
}
]
}