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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: 15-73984752-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=73984752&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 73984752,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004809.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Glu304Lys",
"transcript": "NM_004809.5",
"protein_id": "NP_004800.2",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 398,
"cds_start": 910,
"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": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Glu304Lys",
"transcript": "ENST00000541638.6",
"protein_id": "ENSP00000442478.2",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 398,
"cds_start": 910,
"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": "E",
"aa_alt": "K",
"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.760G>A",
"hgvs_p": "p.Glu254Lys",
"transcript": "ENST00000316911.10",
"protein_id": "ENSP00000319384.6",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 348,
"cds_start": 760,
"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": "E",
"aa_alt": "K",
"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.757G>A",
"hgvs_p": "p.Glu253Lys",
"transcript": "ENST00000564777.5",
"protein_id": "ENSP00000456343.1",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 347,
"cds_start": 757,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.790+566G>A",
"hgvs_p": null,
"transcript": "ENST00000359750.8",
"protein_id": "ENSP00000352788.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.907G>A",
"hgvs_p": "p.Glu303Lys",
"transcript": "NM_001256672.2",
"protein_id": "NP_001243601.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 397,
"cds_start": 907,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Glu300Lys",
"transcript": "ENST00000958642.1",
"protein_id": "ENSP00000628701.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 394,
"cds_start": 898,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.889G>A",
"hgvs_p": "p.Glu297Lys",
"transcript": "ENST00000958641.1",
"protein_id": "ENSP00000628700.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 391,
"cds_start": 889,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958641.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.883G>A",
"hgvs_p": "p.Glu295Lys",
"transcript": "ENST00000903412.1",
"protein_id": "ENSP00000573471.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 389,
"cds_start": 883,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Glu294Lys",
"transcript": "ENST00000903410.1",
"protein_id": "ENSP00000573469.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 388,
"cds_start": 880,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.805G>A",
"hgvs_p": "p.Glu269Lys",
"transcript": "ENST00000903413.1",
"protein_id": "ENSP00000573472.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 363,
"cds_start": 805,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Glu262Lys",
"transcript": "NM_001324230.2",
"protein_id": "NP_001311159.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 356,
"cds_start": 784,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Glu261Lys",
"transcript": "NM_001256677.1",
"protein_id": "NP_001243606.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 355,
"cds_start": 781,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Glu261Lys",
"transcript": "ENST00000316900.9",
"protein_id": "ENSP00000319323.6",
"transcript_support_level": 2,
"aa_start": 261,
"aa_end": null,
"aa_length": 355,
"cds_start": 781,
"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": "E",
"aa_alt": "K",
"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.760G>A",
"hgvs_p": "p.Glu254Lys",
"transcript": "NM_001256673.1",
"protein_id": "NP_001243602.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 348,
"cds_start": 760,
"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": "E",
"aa_alt": "K",
"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.757G>A",
"hgvs_p": "p.Glu253Lys",
"transcript": "NM_001256674.2",
"protein_id": "NP_001243603.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 347,
"cds_start": 757,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Glu217Lys",
"transcript": "NM_001324227.1",
"protein_id": "NP_001311156.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 311,
"cds_start": 649,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Glu217Lys",
"transcript": "NM_001324228.2",
"protein_id": "NP_001311157.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 311,
"cds_start": 649,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Glu216Lys",
"transcript": "NM_001256676.1",
"protein_id": "NP_001243605.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 310,
"cds_start": 646,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Glu216Lys",
"transcript": "ENST00000561656.5",
"protein_id": "ENSP00000456853.1",
"transcript_support_level": 3,
"aa_start": 216,
"aa_end": null,
"aa_length": 310,
"cds_start": 646,
"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": "E",
"aa_alt": "K",
"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.442G>A",
"hgvs_p": "p.Glu148Lys",
"transcript": "NM_001324229.2",
"protein_id": "NP_001311158.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 242,
"cds_start": 442,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324229.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.439G>A",
"hgvs_p": "p.Glu147Lys",
"transcript": "NM_001324226.1",
"protein_id": "NP_001311155.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 241,
"cds_start": 439,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324226.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "STOML1",
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"hgvs_c": "c.790+566G>A",
"hgvs_p": null,
"transcript": "NM_001256675.2",
"protein_id": "NP_001243604.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"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": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.763+566G>A",
"hgvs_p": null,
"transcript": "ENST00000958643.1",
"protein_id": "ENSP00000628702.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": null,
"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": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.640+566G>A",
"hgvs_p": null,
"transcript": "ENST00000903411.1",
"protein_id": "ENSP00000573470.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": null,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903411.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "c.436+566G>A",
"hgvs_p": null,
"transcript": "ENST00000958644.1",
"protein_id": "ENSP00000628703.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": null,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958644.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"hgvs_c": "n.1300G>A",
"hgvs_p": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000561480.1"
}
],
"gene_symbol": "STOML1",
"gene_hgnc_id": 14560,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5769858360290527,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.25,
"revel_prediction": "Benign",
"alphamissense_score": 0.1311,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.967,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004809.5",
"gene_symbol": "STOML1",
"hgnc_id": 14560,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Glu304Lys"
}
],
"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
}