← 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: 15-73985468-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=73985468&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "STOML1",
"hgnc_id": 14560,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.Arg214Cys",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_004809.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 109,
"alphamissense_prediction": null,
"alphamissense_score": 0.454,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.42,
"chr": "15",
"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": 0.8392329216003418,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 398,
"aa_ref": "R",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6280,
"cdna_start": 712,
"cds_end": null,
"cds_length": 1197,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004809.5",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.640C>T",
"hgvs_p": "p.Arg214Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000541638.6",
"protein_coding": true,
"protein_id": "NP_004800.2",
"strand": false,
"transcript": "NM_004809.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 398,
"aa_ref": "R",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6280,
"cdna_start": 712,
"cds_end": null,
"cds_length": 1197,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000541638.6",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.640C>T",
"hgvs_p": "p.Arg214Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004809.5",
"protein_coding": true,
"protein_id": "ENSP00000442478.2",
"strand": false,
"transcript": "ENST00000541638.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 615,
"cds_end": null,
"cds_length": 1047,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000316911.10",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319384.6",
"strand": false,
"transcript": "ENST00000316911.10",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1849,
"cdna_start": 564,
"cds_end": null,
"cds_length": 1044,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000564777.5",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456343.1",
"strand": false,
"transcript": "ENST00000564777.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 327,
"aa_ref": "R",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 984,
"cdna_start": 640,
"cds_end": null,
"cds_length": 984,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000359750.8",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.640C>T",
"hgvs_p": "p.Arg214Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352788.4",
"strand": false,
"transcript": "ENST00000359750.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 397,
"aa_ref": "R",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6277,
"cdna_start": 712,
"cds_end": null,
"cds_length": 1194,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001256672.2",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.640C>T",
"hgvs_p": "p.Arg214Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243601.1",
"strand": false,
"transcript": "NM_001256672.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 394,
"aa_ref": "R",
"aa_start": 210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1922,
"cdna_start": 650,
"cds_end": null,
"cds_length": 1185,
"cds_start": 628,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000958642.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.628C>T",
"hgvs_p": "p.Arg210Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628701.1",
"strand": false,
"transcript": "ENST00000958642.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 391,
"aa_ref": "R",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1917,
"cdna_start": 664,
"cds_end": null,
"cds_length": 1176,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000958641.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.640C>T",
"hgvs_p": "p.Arg214Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628700.1",
"strand": false,
"transcript": "ENST00000958641.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 389,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": 697,
"cds_end": null,
"cds_length": 1170,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903412.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573471.1",
"strand": false,
"transcript": "ENST00000903412.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 388,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2005,
"cdna_start": 728,
"cds_end": null,
"cds_length": 1167,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903410.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573469.1",
"strand": false,
"transcript": "ENST00000903410.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 363,
"aa_ref": "R",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1092,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903413.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Arg179Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573472.1",
"strand": false,
"transcript": "ENST00000903413.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 356,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6411,
"cdna_start": 843,
"cds_end": null,
"cds_length": 1071,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001324230.2",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311159.1",
"strand": false,
"transcript": "NM_001324230.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 355,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2169,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1068,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001256677.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243606.1",
"strand": false,
"transcript": "NM_001256677.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 355,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2169,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1068,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000316900.9",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319323.6",
"strand": false,
"transcript": "ENST00000316900.9",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 615,
"cds_end": null,
"cds_length": 1047,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001256673.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243602.1",
"strand": false,
"transcript": "NM_001256673.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6127,
"cdna_start": 562,
"cds_end": null,
"cds_length": 1044,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001256674.2",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243603.1",
"strand": false,
"transcript": "NM_001256674.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 327,
"aa_ref": "R",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6067,
"cdna_start": 712,
"cds_end": null,
"cds_length": 984,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001256675.2",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.640C>T",
"hgvs_p": "p.Arg214Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243604.1",
"strand": false,
"transcript": "NM_001256675.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": 636,
"cds_end": null,
"cds_length": 957,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000958643.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Arg205Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628702.1",
"strand": false,
"transcript": "ENST00000958643.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 311,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": 579,
"cds_end": null,
"cds_length": 936,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001324227.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311156.1",
"strand": false,
"transcript": "NM_001324227.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 311,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6158,
"cdna_start": 590,
"cds_end": null,
"cds_length": 936,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001324228.2",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311157.1",
"strand": false,
"transcript": "NM_001324228.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 310,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 579,
"cds_end": null,
"cds_length": 933,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001256676.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243605.1",
"strand": false,
"transcript": "NM_001256676.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 310,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 579,
"cds_end": null,
"cds_length": 933,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000561656.5",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456853.1",
"strand": false,
"transcript": "ENST00000561656.5",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 277,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 583,
"cds_end": null,
"cds_length": 834,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000903411.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Arg164Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573470.1",
"strand": false,
"transcript": "ENST00000903411.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6585,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 729,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001324229.2",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Arg58Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311158.1",
"strand": false,
"transcript": "NM_001324229.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 241,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2157,
"cdna_start": 884,
"cds_end": null,
"cds_length": 726,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001324226.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Arg58Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311155.1",
"strand": false,
"transcript": "NM_001324226.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 209,
"aa_ref": "R",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1364,
"cdna_start": 304,
"cds_end": null,
"cds_length": 630,
"cds_start": 286,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000958644.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628703.1",
"strand": false,
"transcript": "ENST00000958644.1",
"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": 2304,
"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": "ENST00000561480.1",
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"hgvs_c": "n.1033C>T",
"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": "ENST00000561480.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs373693671",
"effect": "missense_variant",
"frequency_reference_population": 0.00007069934,
"gene_hgnc_id": 14560,
"gene_symbol": "STOML1",
"gnomad_exomes_ac": 91,
"gnomad_exomes_af": 0.0000654905,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 18,
"gnomad_genomes_af": 0.000118245,
"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": 4.067,
"pos": 73985468,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.866,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004809.5"
}
]
}