← 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: 1-156738381-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156738381&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MRPL24",
"hgnc_id": 14037,
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_024540.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 81,
"alphamissense_prediction": null,
"alphamissense_score": 0.1538,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7933219075202942,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 883,
"cdna_start": 378,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_145729.3",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361531.6",
"protein_coding": true,
"protein_id": "NP_663781.1",
"strand": false,
"transcript": "NM_145729.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 883,
"cdna_start": 378,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000361531.6",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145729.3",
"protein_coding": true,
"protein_id": "ENSP00000354525.2",
"strand": false,
"transcript": "ENST00000361531.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 883,
"cdna_start": 380,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000368211.8",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357194.4",
"strand": false,
"transcript": "ENST00000368211.8",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 223,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 904,
"cdna_start": 381,
"cds_end": null,
"cds_length": 672,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915502.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585561.1",
"strand": false,
"transcript": "ENST00000915502.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 222,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 878,
"cdna_start": 355,
"cds_end": null,
"cds_length": 669,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858122.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528181.1",
"strand": false,
"transcript": "ENST00000858122.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 218,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 874,
"cdna_start": 363,
"cds_end": null,
"cds_length": 657,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858120.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528179.1",
"strand": false,
"transcript": "ENST00000858120.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 218,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 889,
"cdna_start": 378,
"cds_end": null,
"cds_length": 657,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858125.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528184.1",
"strand": false,
"transcript": "ENST00000858125.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 842,
"cdna_start": 337,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_024540.4",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_078816.2",
"strand": false,
"transcript": "NM_024540.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1466,
"cdna_start": 952,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858113.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528172.1",
"strand": false,
"transcript": "ENST00000858113.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 914,
"cdna_start": 409,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858114.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528173.1",
"strand": false,
"transcript": "ENST00000858114.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1901,
"cdna_start": 1388,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858115.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528174.1",
"strand": false,
"transcript": "ENST00000858115.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 956,
"cdna_start": 450,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858116.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528175.1",
"strand": false,
"transcript": "ENST00000858116.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 891,
"cdna_start": 386,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858117.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528176.1",
"strand": false,
"transcript": "ENST00000858117.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 994,
"cdna_start": 489,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858118.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528177.1",
"strand": false,
"transcript": "ENST00000858118.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 810,
"cdna_start": 305,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858119.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528178.1",
"strand": false,
"transcript": "ENST00000858119.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 851,
"cdna_start": 346,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858121.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528180.1",
"strand": false,
"transcript": "ENST00000858121.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3137,
"cdna_start": 2633,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000858123.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528182.1",
"strand": false,
"transcript": "ENST00000858123.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 994,
"cdna_start": 489,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858124.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528183.1",
"strand": false,
"transcript": "ENST00000858124.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 919,
"cdna_start": 418,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858126.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528185.1",
"strand": false,
"transcript": "ENST00000858126.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 999,
"cdna_start": 495,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858127.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528186.1",
"strand": false,
"transcript": "ENST00000858127.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": 1391,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858128.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528187.1",
"strand": false,
"transcript": "ENST00000858128.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1065,
"cdna_start": 560,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858129.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528188.1",
"strand": false,
"transcript": "ENST00000858129.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 924,
"cdna_start": 419,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915500.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585559.1",
"strand": false,
"transcript": "ENST00000915500.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 868,
"cdna_start": 363,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915504.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585563.1",
"strand": false,
"transcript": "ENST00000915504.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1260,
"cdna_start": 755,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915505.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585564.1",
"strand": false,
"transcript": "ENST00000915505.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 874,
"cdna_start": 370,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000966308.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636367.1",
"strand": false,
"transcript": "ENST00000966308.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1083,
"cdna_start": 578,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000966309.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636368.1",
"strand": false,
"transcript": "ENST00000966309.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 214,
"aa_ref": "R",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 869,
"cdna_start": 372,
"cds_end": null,
"cds_length": 645,
"cds_start": 235,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915508.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585567.1",
"strand": false,
"transcript": "ENST00000915508.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 212,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 871,
"cdna_start": 378,
"cds_end": null,
"cds_length": 639,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915506.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585565.1",
"strand": false,
"transcript": "ENST00000915506.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 210,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 857,
"cdna_start": 369,
"cds_end": null,
"cds_length": 633,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915503.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585562.1",
"strand": false,
"transcript": "ENST00000915503.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 172,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 990,
"cdna_start": 712,
"cds_end": null,
"cds_length": 519,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000434558.5",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411369.1",
"strand": false,
"transcript": "ENST00000434558.5",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 97,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 514,
"cdna_start": 459,
"cds_end": null,
"cds_length": 296,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000412846.5",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406681.1",
"strand": false,
"transcript": "ENST00000412846.5",
"transcript_support_level": 3
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 964,
"cdna_start": 459,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011509981.3",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508283.1",
"strand": false,
"transcript": "XM_011509981.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2343,
"cdna_start": 1838,
"cds_end": null,
"cds_length": 651,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011509982.3",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Arg81Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508284.1",
"strand": false,
"transcript": "XM_011509982.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 198,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 813,
"cdna_start": null,
"cds_end": null,
"cds_length": 597,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966310.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.225+16C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636369.1",
"strand": false,
"transcript": "ENST00000966310.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 184,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 789,
"cdna_start": null,
"cds_end": null,
"cds_length": 555,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915501.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.183+141C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585560.1",
"strand": false,
"transcript": "ENST00000915501.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 184,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 784,
"cdna_start": null,
"cds_end": null,
"cds_length": 555,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915507.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.183+141C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585566.1",
"strand": false,
"transcript": "ENST00000915507.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 67,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 448,
"cdna_start": null,
"cds_end": null,
"cds_length": 204,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000420938.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "c.*37C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409803.1",
"strand": true,
"transcript": "ENST00000420938.1",
"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": 560,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000478899.1",
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"hgvs_c": "n.-154C>T",
"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": "ENST00000478899.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs747079517",
"effect": "missense_variant",
"frequency_reference_population": 0.000050187056,
"gene_hgnc_id": 14037,
"gene_symbol": "MRPL24",
"gnomad_exomes_ac": 77,
"gnomad_exomes_af": 0.0000526715,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000263033,
"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": 4.018,
"pos": 156738381,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.433,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_024540.4"
}
]
}