← 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: 12-10709940-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=10709940&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "YBX3",
"hgnc_id": 2428,
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Ser250Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_003651.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 12,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0892,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "12",
"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": 0.05141323804855347,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 372,
"aa_ref": "S",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 960,
"cds_end": null,
"cds_length": 1119,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_003651.5",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Ser250Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000228251.9",
"protein_coding": true,
"protein_id": "NP_003642.3",
"strand": false,
"transcript": "NM_003651.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 372,
"aa_ref": "S",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 960,
"cds_end": null,
"cds_length": 1119,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000228251.9",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Ser250Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003651.5",
"protein_coding": true,
"protein_id": "ENSP00000228251.4",
"strand": false,
"transcript": "ENST00000228251.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 303,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": null,
"cds_end": null,
"cds_length": 912,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000279550.11",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.573+3271T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000279550.7",
"strand": false,
"transcript": "ENST00000279550.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 437,
"aa_ref": "S",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2124,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1314,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955210.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Ser250Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625269.1",
"strand": false,
"transcript": "ENST00000955210.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 382,
"aa_ref": "S",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1961,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1149,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000955208.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.781T>C",
"hgvs_p": "p.Ser261Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625267.1",
"strand": false,
"transcript": "ENST00000955208.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 378,
"aa_ref": "S",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1956,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1137,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895014.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Ser250Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565073.1",
"strand": false,
"transcript": "ENST00000895014.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 378,
"aa_ref": "S",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1137,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955211.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.766T>C",
"hgvs_p": "p.Ser256Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625270.1",
"strand": false,
"transcript": "ENST00000955211.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 372,
"aa_ref": "S",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3413,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1119,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895017.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Ser250Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565076.1",
"strand": false,
"transcript": "ENST00000895017.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 372,
"aa_ref": "S",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1555,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1119,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895018.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Ser250Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565077.1",
"strand": false,
"transcript": "ENST00000895018.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 372,
"aa_ref": "S",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1987,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1119,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000932591.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Ser250Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602650.1",
"strand": false,
"transcript": "ENST00000932591.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 371,
"aa_ref": "S",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1116,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895012.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Ser250Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565071.1",
"strand": false,
"transcript": "ENST00000895012.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 370,
"aa_ref": "S",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1933,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1113,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000932592.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Ser250Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602651.1",
"strand": false,
"transcript": "ENST00000932592.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 369,
"aa_ref": "S",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1110,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895010.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Ser250Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565069.1",
"strand": false,
"transcript": "ENST00000895010.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 369,
"aa_ref": "S",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1921,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1110,
"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955209.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.739T>C",
"hgvs_p": "p.Ser247Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625268.1",
"strand": false,
"transcript": "ENST00000955209.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 368,
"aa_ref": "S",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1926,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1107,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895015.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Ser250Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565074.1",
"strand": false,
"transcript": "ENST00000895015.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 362,
"aa_ref": "S",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1089,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000932594.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.718T>C",
"hgvs_p": "p.Ser240Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602653.1",
"strand": false,
"transcript": "ENST00000932594.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 336,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1683,
"cdna_start": 852,
"cds_end": null,
"cds_length": 1011,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955215.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.640T>C",
"hgvs_p": "p.Ser214Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625274.1",
"strand": false,
"transcript": "ENST00000955215.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 331,
"aa_ref": "S",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1820,
"cdna_start": 837,
"cds_end": null,
"cds_length": 996,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000955201.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.625T>C",
"hgvs_p": "p.Ser209Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625260.1",
"strand": false,
"transcript": "ENST00000955201.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 372,
"aa_ref": "S",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1367,
"cdna_start": 960,
"cds_end": null,
"cds_length": 1119,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047429799.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Ser250Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285755.1",
"strand": false,
"transcript": "XM_047429799.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 369,
"aa_ref": "S",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1922,
"cdna_start": 960,
"cds_end": null,
"cds_length": 1110,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017020122.3",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Ser250Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875611.1",
"strand": false,
"transcript": "XM_017020122.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 368,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": null,
"cds_end": null,
"cds_length": 1107,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955212.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.573+3271T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625271.1",
"strand": false,
"transcript": "ENST00000955212.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955202.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.657+3271T>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625261.1",
"strand": false,
"transcript": "ENST00000955202.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 314,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1759,
"cdna_start": null,
"cds_end": null,
"cds_length": 945,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955206.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.606+3271T>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625265.1",
"strand": false,
"transcript": "ENST00000955206.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 303,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": null,
"cds_end": null,
"cds_length": 912,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145426.2",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.573+3271T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138898.1",
"strand": false,
"transcript": "NM_001145426.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 303,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": null,
"cds_end": null,
"cds_length": 912,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932593.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.573+3271T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602652.1",
"strand": false,
"transcript": "ENST00000932593.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 303,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": null,
"cds_end": null,
"cds_length": 912,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955203.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.573+3271T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625262.1",
"strand": false,
"transcript": "ENST00000955203.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 303,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": null,
"cds_end": null,
"cds_length": 912,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955205.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.573+3271T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625264.1",
"strand": false,
"transcript": "ENST00000955205.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1737,
"cdna_start": null,
"cds_end": null,
"cds_length": 909,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895013.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.573+3271T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565072.1",
"strand": false,
"transcript": "ENST00000895013.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": null,
"cds_end": null,
"cds_length": 909,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955207.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.573+3271T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625266.1",
"strand": false,
"transcript": "ENST00000955207.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 301,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": null,
"cds_end": null,
"cds_length": 906,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955204.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.573+3271T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625263.1",
"strand": false,
"transcript": "ENST00000955204.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 300,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": null,
"cds_end": null,
"cds_length": 903,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895011.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.573+3271T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565070.1",
"strand": false,
"transcript": "ENST00000895011.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 300,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1612,
"cdna_start": null,
"cds_end": null,
"cds_length": 903,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955214.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.573+3271T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625273.1",
"strand": false,
"transcript": "ENST00000955214.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 299,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": null,
"cds_end": null,
"cds_length": 900,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895016.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.573+3271T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565075.1",
"strand": false,
"transcript": "ENST00000895016.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 299,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": null,
"cds_end": null,
"cds_length": 900,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955213.1",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.561+3271T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625272.1",
"strand": false,
"transcript": "ENST00000955213.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 300,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": null,
"cds_end": null,
"cds_length": 903,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017020123.3",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "c.573+3271T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875612.1",
"strand": false,
"transcript": "XM_017020123.3",
"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": 649,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000539204.5",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "n.491T>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": "ENST00000539204.5",
"transcript_support_level": 3
},
{
"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": 6393,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000540447.5",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "n.3644T>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": "ENST00000540447.5",
"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": 717,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000541351.3",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "n.236T>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": "ENST00000541351.3",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 583,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000544504.5",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "n.328T>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": "ENST00000544504.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 805,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000546164.5",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "n.181T>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": "ENST00000546164.5",
"transcript_support_level": 2
},
{
"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": 952,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000542002.5",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "n.578+3271T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000542002.5",
"transcript_support_level": 2
},
{
"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": 669,
"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": "ENST00000542641.5",
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"hgvs_c": "n.316+3271T>C",
"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": "ENST00000542641.5",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs150841551",
"effect": "missense_variant",
"frequency_reference_population": 0.0000074347968,
"gene_hgnc_id": 2428,
"gene_symbol": "YBX3",
"gnomad_exomes_ac": 11,
"gnomad_exomes_af": 0.00000752485,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000656996,
"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": "Benign",
"phylop100way_score": 0.508,
"pos": 10709940,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.064,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_003651.5"
}
]
}