← 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: 14-74909756-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74909756&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RPS6KL1",
"hgnc_id": 20222,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001370252.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 23,
"alphamissense_prediction": null,
"alphamissense_score": 0.0824,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "14",
"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": 0.02253776788711548,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 549,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5322,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_031464.5",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000557413.6",
"protein_coding": true,
"protein_id": "NP_113652.2",
"strand": false,
"transcript": "NM_031464.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 549,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5322,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000557413.6",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031464.5",
"protein_coding": true,
"protein_id": "ENSP00000450567.1",
"strand": false,
"transcript": "ENST00000557413.6",
"transcript_support_level": 5
},
{
"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": 2457,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000555009.5",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "n.964G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450660.1",
"strand": false,
"transcript": "ENST00000555009.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 565,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001370252.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357181.1",
"strand": false,
"transcript": "NM_001370252.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 565,
"aa_ref": "G",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3658,
"cdna_start": 1694,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000961459.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Gly369Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631518.1",
"strand": false,
"transcript": "ENST00000961459.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 549,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5195,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000354625.6",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346644.3",
"strand": false,
"transcript": "ENST00000354625.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 549,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3309,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000555647.5",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452027.1",
"strand": false,
"transcript": "ENST00000555647.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 549,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3585,
"cdna_start": 1624,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906485.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576544.1",
"strand": false,
"transcript": "ENST00000906485.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 549,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3929,
"cdna_start": 1967,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906486.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576545.1",
"strand": false,
"transcript": "ENST00000906486.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 549,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3691,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000920813.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590872.1",
"strand": false,
"transcript": "ENST00000920813.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 549,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000961448.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631507.1",
"strand": false,
"transcript": "ENST00000961448.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 549,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000961458.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631517.1",
"strand": false,
"transcript": "ENST00000961458.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 534,
"aa_ref": "G",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1012,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000961452.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Gly338Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631511.1",
"strand": false,
"transcript": "ENST00000961452.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 534,
"aa_ref": "G",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3495,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1012,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000961457.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Gly338Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631516.1",
"strand": false,
"transcript": "ENST00000961457.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 533,
"aa_ref": "G",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000961451.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Gly337Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631510.1",
"strand": false,
"transcript": "ENST00000961451.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 519,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3533,
"cdna_start": 1659,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000920816.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590875.1",
"strand": false,
"transcript": "ENST00000920816.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 518,
"aa_ref": "G",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3532,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1557,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000920814.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Gly322Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590873.1",
"strand": false,
"transcript": "ENST00000920814.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 518,
"aa_ref": "G",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 1557,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920815.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Gly322Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590874.1",
"strand": false,
"transcript": "ENST00000920815.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 518,
"aa_ref": "G",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 1557,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000961450.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Gly322Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631509.1",
"strand": false,
"transcript": "ENST00000961450.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 518,
"aa_ref": "G",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3166,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 1557,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000961453.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Gly322Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631512.1",
"strand": false,
"transcript": "ENST00000961453.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 518,
"aa_ref": "G",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 1557,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000961461.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Gly322Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631520.1",
"strand": false,
"transcript": "ENST00000961461.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 517,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3841,
"cdna_start": 1973,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906484.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576543.1",
"strand": false,
"transcript": "ENST00000906484.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 517,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2470,
"cdna_start": 1665,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000961462.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631521.1",
"strand": false,
"transcript": "ENST00000961462.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 511,
"aa_ref": "G",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5587,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1012,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001370253.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Gly338Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357182.1",
"strand": false,
"transcript": "NM_001370253.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 502,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3437,
"cdna_start": 1475,
"cds_end": null,
"cds_length": 1509,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920817.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590876.1",
"strand": false,
"transcript": "ENST00000920817.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 502,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1509,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000961449.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631508.1",
"strand": false,
"transcript": "ENST00000961449.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 488,
"aa_ref": "G",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3435,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 1467,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000961455.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Gly322Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631514.1",
"strand": false,
"transcript": "ENST00000961455.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 487,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3435,
"cdna_start": 1659,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000961454.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631513.1",
"strand": false,
"transcript": "ENST00000961454.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 486,
"aa_ref": "G",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3513,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 1461,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000920809.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Gly322Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590868.1",
"strand": false,
"transcript": "ENST00000920809.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 486,
"aa_ref": "G",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3474,
"cdna_start": 1607,
"cds_end": null,
"cds_length": 1461,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000961446.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Gly322Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631505.1",
"strand": false,
"transcript": "ENST00000961446.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 472,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 1419,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000961460.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631519.1",
"strand": false,
"transcript": "ENST00000961460.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 440,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2796,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1323,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000920810.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590869.1",
"strand": false,
"transcript": "ENST00000920810.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 440,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3290,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 1323,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000961456.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631515.1",
"strand": false,
"transcript": "ENST00000961456.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 603,
"aa_ref": "G",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3320,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011537206.4",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Gly369Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535508.1",
"strand": false,
"transcript": "XM_011537206.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 603,
"aa_ref": "G",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3669,
"cdna_start": 2031,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011537207.3",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Gly369Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535509.1",
"strand": false,
"transcript": "XM_011537207.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 603,
"aa_ref": "G",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017021680.3",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Gly369Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877169.1",
"strand": false,
"transcript": "XM_017021680.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 587,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2796,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017021682.2",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877171.1",
"strand": false,
"transcript": "XM_017021682.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 587,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_024449716.2",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305484.1",
"strand": false,
"transcript": "XM_024449716.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 587,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3272,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_024449717.2",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305485.1",
"strand": false,
"transcript": "XM_024449717.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 587,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 1623,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047431796.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287752.1",
"strand": false,
"transcript": "XM_047431796.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 573,
"aa_ref": "G",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3262,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017021683.3",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Gly369Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877172.1",
"strand": false,
"transcript": "XM_017021683.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "G",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3256,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017021684.3",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Gly369Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877173.1",
"strand": false,
"transcript": "XM_017021684.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 569,
"aa_ref": "G",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017021685.3",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Gly369Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877174.1",
"strand": false,
"transcript": "XM_017021685.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 556,
"aa_ref": "G",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3211,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 1671,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011537211.4",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Gly322Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535513.1",
"strand": false,
"transcript": "XM_011537211.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 556,
"aa_ref": "G",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2703,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 1671,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047431797.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Gly322Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287753.1",
"strand": false,
"transcript": "XM_047431797.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 540,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 1623,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011537213.4",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535515.1",
"strand": false,
"transcript": "XM_011537213.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 523,
"aa_ref": "G",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3282,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047431798.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287754.1",
"strand": false,
"transcript": "XM_047431798.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 522,
"aa_ref": "G",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3279,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 1569,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047431799.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Gly322Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287755.1",
"strand": false,
"transcript": "XM_047431799.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 471,
"aa_ref": "G",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017021686.3",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Gly369Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877175.1",
"strand": false,
"transcript": "XM_017021686.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 353,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": null,
"cds_end": null,
"cds_length": 1062,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370255.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.665-566G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357184.1",
"strand": false,
"transcript": "NM_001370255.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 317,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4118,
"cdna_start": null,
"cds_end": null,
"cds_length": 954,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370256.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.665-824G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357185.1",
"strand": false,
"transcript": "NM_001370256.1",
"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": 1894,
"cdna_start": null,
"cds_end": null,
"cds_length": 903,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370257.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.572-566G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357186.1",
"strand": false,
"transcript": "NM_001370257.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 286,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": null,
"cds_end": null,
"cds_length": 861,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920811.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.572-824G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590870.1",
"strand": false,
"transcript": "ENST00000920811.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 286,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": null,
"cds_end": null,
"cds_length": 861,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000920812.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.572-824G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590871.1",
"strand": false,
"transcript": "ENST00000920812.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 285,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": null,
"cds_end": null,
"cds_length": 858,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961447.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.665-824G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631506.1",
"strand": false,
"transcript": "ENST00000961447.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 270,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2312,
"cdna_start": null,
"cds_end": null,
"cds_length": 813,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370258.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.572-824G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357187.1",
"strand": false,
"transcript": "NM_001370258.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 157,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 607,
"cdna_start": null,
"cds_end": null,
"cds_length": 474,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000553789.5",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.95-566G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450846.1",
"strand": false,
"transcript": "ENST00000553789.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 103,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 527,
"cdna_start": null,
"cds_end": null,
"cds_length": 312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000553971.5",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.29-566G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451152.1",
"strand": false,
"transcript": "ENST00000553971.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 401,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2746,
"cdna_start": null,
"cds_end": null,
"cds_length": 1206,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017021688.3",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.713-566G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877177.1",
"strand": false,
"transcript": "XM_017021688.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 354,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2605,
"cdna_start": null,
"cds_end": null,
"cds_length": 1065,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431800.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.572-566G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287756.1",
"strand": false,
"transcript": "XM_047431800.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 347,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4716,
"cdna_start": null,
"cds_end": null,
"cds_length": 1044,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431801.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.665-566G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287757.1",
"strand": false,
"transcript": "XM_047431801.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 324,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2515,
"cdna_start": null,
"cds_end": null,
"cds_length": 975,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017021691.3",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.572-824G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877180.1",
"strand": false,
"transcript": "XM_017021691.3",
"transcript_support_level": null
},
{
"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": 3535,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000553646.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "n.910G>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": "ENST00000553646.1",
"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": 5456,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000555834.5",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "n.1141G>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": "ENST00000555834.5",
"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": 4634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_163404.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "n.1666G>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_163404.1",
"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": 4639,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NR_163405.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "n.1666G>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_163405.1",
"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": 4417,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NR_163406.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "n.1449G>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_163406.1",
"transcript_support_level": null
},
{
"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": 2157,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556848.5",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "n.-88G>A",
"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": "ENST00000556848.5",
"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": 812,
"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": "ENST00000554834.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "n.*213G>A",
"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": "ENST00000554834.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs773733731",
"effect": "missense_variant",
"frequency_reference_population": 0.0000143145035,
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"gnomad_exomes_ac": 22,
"gnomad_exomes_af": 0.0000151252,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000656866,
"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": -0.177,
"pos": 74909756,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.024,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001370252.1"
}
]
}