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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: 15-73985326-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=73985326&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 73985326,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004809.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.782C>A",
"hgvs_p": "p.Pro261Gln",
"transcript": "NM_004809.5",
"protein_id": "NP_004800.2",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 398,
"cds_start": 782,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000541638.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004809.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.782C>A",
"hgvs_p": "p.Pro261Gln",
"transcript": "ENST00000541638.6",
"protein_id": "ENSP00000442478.2",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 398,
"cds_start": 782,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004809.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541638.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.632C>A",
"hgvs_p": "p.Pro211Gln",
"transcript": "ENST00000316911.10",
"protein_id": "ENSP00000319384.6",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 348,
"cds_start": 632,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316911.10"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.632C>A",
"hgvs_p": "p.Pro211Gln",
"transcript": "ENST00000564777.5",
"protein_id": "ENSP00000456343.1",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 347,
"cds_start": 632,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564777.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.782C>A",
"hgvs_p": "p.Pro261Gln",
"transcript": "ENST00000359750.8",
"protein_id": "ENSP00000352788.4",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 327,
"cds_start": 782,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359750.8"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.782C>A",
"hgvs_p": "p.Pro261Gln",
"transcript": "NM_001256672.2",
"protein_id": "NP_001243601.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 397,
"cds_start": 782,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256672.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.770C>A",
"hgvs_p": "p.Pro257Gln",
"transcript": "ENST00000958642.1",
"protein_id": "ENSP00000628701.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 394,
"cds_start": 770,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958642.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.755C>A",
"hgvs_p": "p.Pro252Gln",
"transcript": "ENST00000903412.1",
"protein_id": "ENSP00000573471.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 389,
"cds_start": 755,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903412.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.755C>A",
"hgvs_p": "p.Pro252Gln",
"transcript": "ENST00000903410.1",
"protein_id": "ENSP00000573469.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 388,
"cds_start": 755,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903410.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.677C>A",
"hgvs_p": "p.Pro226Gln",
"transcript": "ENST00000903413.1",
"protein_id": "ENSP00000573472.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 363,
"cds_start": 677,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903413.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.656C>A",
"hgvs_p": "p.Pro219Gln",
"transcript": "NM_001324230.2",
"protein_id": "NP_001311159.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 356,
"cds_start": 656,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324230.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.656C>A",
"hgvs_p": "p.Pro219Gln",
"transcript": "NM_001256677.1",
"protein_id": "NP_001243606.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 355,
"cds_start": 656,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256677.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.656C>A",
"hgvs_p": "p.Pro219Gln",
"transcript": "ENST00000316900.9",
"protein_id": "ENSP00000319323.6",
"transcript_support_level": 2,
"aa_start": 219,
"aa_end": null,
"aa_length": 355,
"cds_start": 656,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316900.9"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.632C>A",
"hgvs_p": "p.Pro211Gln",
"transcript": "NM_001256673.1",
"protein_id": "NP_001243602.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 348,
"cds_start": 632,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256673.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.632C>A",
"hgvs_p": "p.Pro211Gln",
"transcript": "NM_001256674.2",
"protein_id": "NP_001243603.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 347,
"cds_start": 632,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256674.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.782C>A",
"hgvs_p": "p.Pro261Gln",
"transcript": "NM_001256675.2",
"protein_id": "NP_001243604.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 327,
"cds_start": 782,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256675.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.755C>A",
"hgvs_p": "p.Pro252Gln",
"transcript": "ENST00000958643.1",
"protein_id": "ENSP00000628702.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 318,
"cds_start": 755,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958643.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.521C>A",
"hgvs_p": "p.Pro174Gln",
"transcript": "NM_001324227.1",
"protein_id": "NP_001311156.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 311,
"cds_start": 521,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324227.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.521C>A",
"hgvs_p": "p.Pro174Gln",
"transcript": "NM_001324228.2",
"protein_id": "NP_001311157.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 311,
"cds_start": 521,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324228.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.521C>A",
"hgvs_p": "p.Pro174Gln",
"transcript": "NM_001256676.1",
"protein_id": "NP_001243605.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 310,
"cds_start": 521,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256676.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.521C>A",
"hgvs_p": "p.Pro174Gln",
"transcript": "ENST00000561656.5",
"protein_id": "ENSP00000456853.1",
"transcript_support_level": 3,
"aa_start": 174,
"aa_end": null,
"aa_length": 310,
"cds_start": 521,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561656.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.632C>A",
"hgvs_p": "p.Pro211Gln",
"transcript": "ENST00000903411.1",
"protein_id": "ENSP00000573470.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 277,
"cds_start": 632,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
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{
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{
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],
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"hom_count_reference_population": 0,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.08686360716819763,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.285,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.261,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004809.5",
"gene_symbol": "STOML1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}