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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: 12-113398594-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=113398594&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 113398594,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006843.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "NM_006843.3",
"protein_id": "NP_006834.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 328,
"cds_start": 346,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257549.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006843.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000257549.9",
"protein_id": "ENSP00000257549.4",
"transcript_support_level": 2,
"aa_start": 116,
"aa_end": null,
"aa_length": 328,
"cds_start": 346,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006843.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257549.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Ala130Thr",
"transcript": "ENST00000880860.1",
"protein_id": "ENSP00000550919.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 342,
"cds_start": 388,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880860.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Ala120Thr",
"transcript": "ENST00000880862.1",
"protein_id": "ENSP00000550921.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 332,
"cds_start": 358,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880862.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880846.1",
"protein_id": "ENSP00000550905.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 328,
"cds_start": 346,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880846.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880847.1",
"protein_id": "ENSP00000550906.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 328,
"cds_start": 346,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880847.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880848.1",
"protein_id": "ENSP00000550907.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 328,
"cds_start": 346,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880848.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880849.1",
"protein_id": "ENSP00000550908.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 328,
"cds_start": 346,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880849.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880851.1",
"protein_id": "ENSP00000550910.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 328,
"cds_start": 346,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880851.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880852.1",
"protein_id": "ENSP00000550911.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 328,
"cds_start": 346,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880852.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880853.1",
"protein_id": "ENSP00000550912.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 328,
"cds_start": 346,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880853.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880854.1",
"protein_id": "ENSP00000550913.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 328,
"cds_start": 346,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880854.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880855.1",
"protein_id": "ENSP00000550914.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 328,
"cds_start": 346,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880855.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880857.1",
"protein_id": "ENSP00000550916.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 328,
"cds_start": 346,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880857.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880858.1",
"protein_id": "ENSP00000550917.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 328,
"cds_start": 346,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880858.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880863.1",
"protein_id": "ENSP00000550922.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 328,
"cds_start": 346,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880863.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880864.1",
"protein_id": "ENSP00000550923.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 328,
"cds_start": 346,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880864.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880865.1",
"protein_id": "ENSP00000550924.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 328,
"cds_start": 346,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880865.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Ala112Thr",
"transcript": "ENST00000880861.1",
"protein_id": "ENSP00000550920.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 324,
"cds_start": 334,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880861.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880859.1",
"protein_id": "ENSP00000550918.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 270,
"cds_start": 346,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880859.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "ENST00000880866.1",
"protein_id": "ENSP00000550925.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 268,
"cds_start": 166,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880866.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880850.1",
"protein_id": "ENSP00000550909.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 252,
"cds_start": 346,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880850.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"transcript": "ENST00000880856.1",
"protein_id": "ENSP00000550915.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 252,
"cds_start": 346,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880856.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Ala210Thr",
"transcript": "ENST00000547342.1",
"protein_id": "ENSP00000449061.1",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 234,
"cds_start": 628,
"cds_end": null,
"cds_length": 707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547342.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "c.153+962G>A",
"hgvs_p": null,
"transcript": "ENST00000552280.5",
"protein_id": "ENSP00000449833.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 96,
"cds_start": null,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552280.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "n.467G>A",
"hgvs_p": null,
"transcript": "ENST00000553112.5",
"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": "ENST00000553112.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"hgvs_c": "n.*243G>A",
"hgvs_p": null,
"transcript": "ENST00000546639.1",
"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": "ENST00000546639.1"
}
],
"gene_symbol": "SDS",
"gene_hgnc_id": 10691,
"dbsnp": "rs749693153",
"frequency_reference_population": 0.000004851193,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000485119,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.81026691198349,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.488,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1497,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.519,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006843.3",
"gene_symbol": "SDS",
"hgnc_id": 10691,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr"
}
],
"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
}