← 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: 3-183807006-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183807006&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "YEATS2",
"hgnc_id": 25489,
"hgvs_c": "c.3928A>G",
"hgvs_p": "p.Lys1310Glu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001351370.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "YEATS2-AS1",
"hgnc_id": 41101,
"hgvs_c": "n.1893T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000425008.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.141,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1136581301689148,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1422,
"aa_ref": "K",
"aa_start": 1309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6526,
"cdna_start": 4141,
"cds_end": null,
"cds_length": 4269,
"cds_start": 3925,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_018023.5",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3925A>G",
"hgvs_p": "p.Lys1309Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000305135.10",
"protein_coding": true,
"protein_id": "NP_060493.3",
"strand": true,
"transcript": "NM_018023.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1422,
"aa_ref": "K",
"aa_start": 1309,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6526,
"cdna_start": 4141,
"cds_end": null,
"cds_length": 4269,
"cds_start": 3925,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000305135.10",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3925A>G",
"hgvs_p": "p.Lys1309Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018023.5",
"protein_coding": true,
"protein_id": "ENSP00000306983.5",
"strand": true,
"transcript": "ENST00000305135.10",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "K",
"aa_start": 1310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6529,
"cdna_start": 4144,
"cds_end": null,
"cds_length": 4272,
"cds_start": 3928,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001351370.2",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3928A>G",
"hgvs_p": "p.Lys1310Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338299.1",
"strand": true,
"transcript": "NM_001351370.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "K",
"aa_start": 1310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6563,
"cdna_start": 4178,
"cds_end": null,
"cds_length": 4272,
"cds_start": 3928,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000884732.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3928A>G",
"hgvs_p": "p.Lys1310Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554791.1",
"strand": true,
"transcript": "ENST00000884732.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "K",
"aa_start": 1310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6614,
"cdna_start": 4232,
"cds_end": null,
"cds_length": 4272,
"cds_start": 3928,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000884736.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3928A>G",
"hgvs_p": "p.Lys1310Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554795.1",
"strand": true,
"transcript": "ENST00000884736.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "K",
"aa_start": 1310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6664,
"cdna_start": 4098,
"cds_end": null,
"cds_length": 4272,
"cds_start": 3928,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000927066.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3928A>G",
"hgvs_p": "p.Lys1310Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597125.1",
"strand": true,
"transcript": "ENST00000927066.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1422,
"aa_ref": "K",
"aa_start": 1309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6382,
"cdna_start": 3997,
"cds_end": null,
"cds_length": 4269,
"cds_start": 3925,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001351369.2",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3925A>G",
"hgvs_p": "p.Lys1309Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338298.1",
"strand": true,
"transcript": "NM_001351369.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1422,
"aa_ref": "K",
"aa_start": 1309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6646,
"cdna_start": 4264,
"cds_end": null,
"cds_length": 4269,
"cds_start": 3925,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000884734.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3925A>G",
"hgvs_p": "p.Lys1309Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554793.1",
"strand": true,
"transcript": "ENST00000884734.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1422,
"aa_ref": "K",
"aa_start": 1309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6458,
"cdna_start": 4075,
"cds_end": null,
"cds_length": 4269,
"cds_start": 3925,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000884737.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3925A>G",
"hgvs_p": "p.Lys1309Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554796.1",
"strand": true,
"transcript": "ENST00000884737.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1422,
"aa_ref": "K",
"aa_start": 1309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6544,
"cdna_start": 4158,
"cds_end": null,
"cds_length": 4269,
"cds_start": 3925,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000927064.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3925A>G",
"hgvs_p": "p.Lys1309Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597123.1",
"strand": true,
"transcript": "ENST00000927064.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1422,
"aa_ref": "K",
"aa_start": 1309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6356,
"cdna_start": 3973,
"cds_end": null,
"cds_length": 4269,
"cds_start": 3925,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000927067.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3925A>G",
"hgvs_p": "p.Lys1309Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597126.1",
"strand": true,
"transcript": "ENST00000927067.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1421,
"aa_ref": "K",
"aa_start": 1308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6540,
"cdna_start": 4157,
"cds_end": null,
"cds_length": 4266,
"cds_start": 3922,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000927062.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3922A>G",
"hgvs_p": "p.Lys1308Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597121.1",
"strand": true,
"transcript": "ENST00000927062.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1369,
"aa_ref": "K",
"aa_start": 1256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6376,
"cdna_start": 3993,
"cds_end": null,
"cds_length": 4110,
"cds_start": 3766,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000927063.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3766A>G",
"hgvs_p": "p.Lys1256Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597122.1",
"strand": true,
"transcript": "ENST00000927063.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1369,
"aa_ref": "K",
"aa_start": 1256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6301,
"cdna_start": 3920,
"cds_end": null,
"cds_length": 4110,
"cds_start": 3766,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000927065.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3766A>G",
"hgvs_p": "p.Lys1256Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597124.1",
"strand": true,
"transcript": "ENST00000927065.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1368,
"aa_ref": "K",
"aa_start": 1255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6500,
"cdna_start": 4119,
"cds_end": null,
"cds_length": 4107,
"cds_start": 3763,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000884733.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3763A>G",
"hgvs_p": "p.Lys1255Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554792.1",
"strand": true,
"transcript": "ENST00000884733.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1368,
"aa_ref": "K",
"aa_start": 1255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6594,
"cdna_start": 4028,
"cds_end": null,
"cds_length": 4107,
"cds_start": 3763,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000927061.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3763A>G",
"hgvs_p": "p.Lys1255Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597120.1",
"strand": true,
"transcript": "ENST00000927061.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1325,
"aa_ref": "K",
"aa_start": 1212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6137,
"cdna_start": 3755,
"cds_end": null,
"cds_length": 3978,
"cds_start": 3634,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000927068.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3634A>G",
"hgvs_p": "p.Lys1212Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597127.1",
"strand": true,
"transcript": "ENST00000927068.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1325,
"aa_ref": "K",
"aa_start": 1212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5096,
"cdna_start": 3813,
"cds_end": null,
"cds_length": 3978,
"cds_start": 3634,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000941369.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3634A>G",
"hgvs_p": "p.Lys1212Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611428.1",
"strand": true,
"transcript": "ENST00000941369.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1271,
"aa_ref": "K",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6067,
"cdna_start": 3685,
"cds_end": null,
"cds_length": 3816,
"cds_start": 3472,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000884735.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3472A>G",
"hgvs_p": "p.Lys1158Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554794.1",
"strand": true,
"transcript": "ENST00000884735.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 666,
"aa_ref": "K",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 1884,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1657,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000884738.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.1657A>G",
"hgvs_p": "p.Lys553Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554797.1",
"strand": true,
"transcript": "ENST00000884738.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "K",
"aa_start": 1310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6465,
"cdna_start": 4080,
"cds_end": null,
"cds_length": 4272,
"cds_start": 3928,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_005247598.6",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3928A>G",
"hgvs_p": "p.Lys1310Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005247655.1",
"strand": true,
"transcript": "XM_005247598.6",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "K",
"aa_start": 1310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6551,
"cdna_start": 4166,
"cds_end": null,
"cds_length": 4272,
"cds_start": 3928,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047448527.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3928A>G",
"hgvs_p": "p.Lys1310Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304483.1",
"strand": true,
"transcript": "XM_047448527.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1422,
"aa_ref": "K",
"aa_start": 1309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6462,
"cdna_start": 4077,
"cds_end": null,
"cds_length": 4269,
"cds_start": 3925,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_017006810.2",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3925A>G",
"hgvs_p": "p.Lys1309Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862299.1",
"strand": true,
"transcript": "XM_017006810.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1422,
"aa_ref": "K",
"aa_start": 1309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6548,
"cdna_start": 4163,
"cds_end": null,
"cds_length": 4269,
"cds_start": 3925,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047448528.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3925A>G",
"hgvs_p": "p.Lys1309Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304484.1",
"strand": true,
"transcript": "XM_047448528.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1370,
"aa_ref": "K",
"aa_start": 1257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6300,
"cdna_start": 3915,
"cds_end": null,
"cds_length": 4113,
"cds_start": 3769,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_017006811.3",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3769A>G",
"hgvs_p": "p.Lys1257Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862300.1",
"strand": true,
"transcript": "XM_017006811.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1369,
"aa_ref": "K",
"aa_start": 1256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6367,
"cdna_start": 3982,
"cds_end": null,
"cds_length": 4110,
"cds_start": 3766,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_011512965.2",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3766A>G",
"hgvs_p": "p.Lys1256Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511267.1",
"strand": true,
"transcript": "XM_011512965.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1369,
"aa_ref": "K",
"aa_start": 1256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6303,
"cdna_start": 3918,
"cds_end": null,
"cds_length": 4110,
"cds_start": 3766,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047448530.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3766A>G",
"hgvs_p": "p.Lys1256Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304486.1",
"strand": true,
"transcript": "XM_047448530.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1368,
"aa_ref": "K",
"aa_start": 1255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6364,
"cdna_start": 3979,
"cds_end": null,
"cds_length": 4107,
"cds_start": 3763,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047448531.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3763A>G",
"hgvs_p": "p.Lys1255Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304487.1",
"strand": true,
"transcript": "XM_047448531.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1368,
"aa_ref": "K",
"aa_start": 1255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6300,
"cdna_start": 3915,
"cds_end": null,
"cds_length": 4107,
"cds_start": 3763,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047448532.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3763A>G",
"hgvs_p": "p.Lys1255Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304488.1",
"strand": true,
"transcript": "XM_047448532.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1368,
"aa_ref": "K",
"aa_start": 1255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6220,
"cdna_start": 3835,
"cds_end": null,
"cds_length": 4107,
"cds_start": 3763,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047448533.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.3763A>G",
"hgvs_p": "p.Lys1255Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304489.1",
"strand": true,
"transcript": "XM_047448533.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "K",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6953,
"cdna_start": 4568,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2695,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047448541.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "c.2695A>G",
"hgvs_p": "p.Lys899Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304497.1",
"strand": true,
"transcript": "XM_047448541.1",
"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": 2442,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000425008.3",
"gene_hgnc_id": 41101,
"gene_symbol": "YEATS2-AS1",
"hgvs_c": "n.1893T>C",
"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": "ENST00000425008.3",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5737,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000472593.1",
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"hgvs_c": "n.3353A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000472593.1",
"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": 1605,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_046727.1",
"gene_hgnc_id": 41101,
"gene_symbol": "YEATS2-AS1",
"hgvs_c": "n.*58T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_046727.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1726279958",
"effect": "missense_variant",
"frequency_reference_population": 0.00000656918,
"gene_hgnc_id": 25489,
"gene_symbol": "YEATS2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000656918,
"gnomad_genomes_homalt": 0,
"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": "Uncertain_significance",
"phylop100way_score": 4.46,
"pos": 183807006,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.051,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001351370.2"
}
]
}