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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-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=73985326&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 73985326,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004809.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro261Leu",
"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": 854,
"cdna_end": null,
"cdna_length": 6280,
"mane_select": "ENST00000541638.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004809.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro261Leu",
"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": 854,
"cdna_end": null,
"cdna_length": 6280,
"mane_select": "NM_004809.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541638.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro211Leu",
"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": 757,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316911.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro211Leu",
"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": 706,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564777.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro261Leu",
"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": 782,
"cdna_end": null,
"cdna_length": 984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359750.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro261Leu",
"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": 854,
"cdna_end": null,
"cdna_length": 6277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256672.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro257Leu",
"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": 792,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958642.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro252Leu",
"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": 839,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903412.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro252Leu",
"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": 870,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903410.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro226Leu",
"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": 749,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903413.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro219Leu",
"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": 985,
"cdna_end": null,
"cdna_length": 6411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324230.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro219Leu",
"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": 1038,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256677.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro219Leu",
"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": 1038,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316900.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro211Leu",
"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": 757,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256673.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro211Leu",
"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": 704,
"cdna_end": null,
"cdna_length": 6127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256674.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro261Leu",
"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": 854,
"cdna_end": null,
"cdna_length": 6067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256675.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro252Leu",
"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": 778,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958643.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro174Leu",
"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": 721,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324227.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro174Leu",
"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": 732,
"cdna_end": null,
"cdna_length": 6158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324228.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro174Leu",
"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,
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"cdna_start": 721,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256676.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro174Leu",
"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": 721,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561656.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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>T",
"hgvs_p": "p.Pro211Leu",
"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": 725,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903411.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "NM_001324229.2",
"protein_id": "NP_001311158.1",
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"aa_start": 105,
"aa_end": null,
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"cds_start": 314,
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"cdna_start": 1159,
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"cdna_length": 6585,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001324229.2"
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
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"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "NM_001324226.1",
"protein_id": "NP_001311155.1",
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"aa_start": 105,
"aa_end": null,
"aa_length": 241,
"cds_start": 314,
"cds_end": null,
"cds_length": 726,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 2157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324226.1"
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "STOML1",
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"hgvs_c": "c.428C>T",
"hgvs_p": "p.Pro143Leu",
"transcript": "ENST00000958644.1",
"protein_id": "ENSP00000628703.1",
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"aa_start": 143,
"aa_end": null,
"aa_length": 209,
"cds_start": 428,
"cds_end": null,
"cds_length": 630,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 1364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958644.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.769+13C>T",
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"transcript": "ENST00000958641.1",
"protein_id": "ENSP00000628700.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958641.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "n.1175C>T",
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"transcript": "ENST00000561480.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000561480.1"
}
],
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"dbsnp": "rs530567361",
"frequency_reference_population": 0.00004641087,
"hom_count_reference_population": 0,
"allele_count_reference_population": 71,
"gnomad_exomes_af": 0.0000283122,
"gnomad_genomes_af": 0.000210087,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 32,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.018530964851379395,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.236,
"revel_prediction": "Benign",
"alphamissense_score": 0.0671,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.261,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_004809.5",
"gene_symbol": "STOML1",
"hgnc_id": 14560,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Pro261Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}