← 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: 3-133380085-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=133380085&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM108",
"hgnc_id": 28451,
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_023943.4",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC101927432",
"hgnc_id": null,
"hgvs_c": "n.131+1578G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NR_189054.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000300103",
"hgnc_id": null,
"hgvs_c": "n.79+1578G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000768831.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.1074,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10809719562530518,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 584,
"cds_end": null,
"cds_length": 1728,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_023943.4",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000321871.11",
"protein_coding": true,
"protein_id": "NP_076432.1",
"strand": true,
"transcript": "NM_023943.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 584,
"cds_end": null,
"cds_length": 1728,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000321871.11",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_023943.4",
"protein_coding": true,
"protein_id": "ENSP00000324651.6",
"strand": true,
"transcript": "ENST00000321871.11",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2165,
"cdna_start": 569,
"cds_end": null,
"cds_length": 1728,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000393130.7",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376838.3",
"strand": true,
"transcript": "ENST00000393130.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 488,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4833,
"cdna_start": 497,
"cds_end": null,
"cds_length": 1467,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000515826.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423338.1",
"strand": true,
"transcript": "ENST00000515826.1",
"transcript_support_level": 1
},
{
"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": 1929,
"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": "ENST00000511388.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "n.369C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000511388.1",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": 580,
"cds_end": null,
"cds_length": 1728,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001136469.3",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129941.1",
"strand": true,
"transcript": "NM_001136469.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2313,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1728,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000930514.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600573.1",
"strand": true,
"transcript": "ENST00000930514.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 637,
"cds_end": null,
"cds_length": 1728,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000930515.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600574.1",
"strand": true,
"transcript": "ENST00000930515.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2053,
"cdna_start": 474,
"cds_end": null,
"cds_length": 1728,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930516.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600575.1",
"strand": true,
"transcript": "ENST00000930516.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2307,
"cdna_start": 727,
"cds_end": null,
"cds_length": 1728,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000930517.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600576.1",
"strand": true,
"transcript": "ENST00000930517.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2088,
"cdna_start": 506,
"cds_end": null,
"cds_length": 1728,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930518.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600577.1",
"strand": true,
"transcript": "ENST00000930518.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2313,
"cdna_start": 728,
"cds_end": null,
"cds_length": 1728,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930519.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600578.1",
"strand": true,
"transcript": "ENST00000930519.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": 624,
"cds_end": null,
"cds_length": 1728,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000968854.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638913.1",
"strand": true,
"transcript": "ENST00000968854.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2198,
"cdna_start": 619,
"cds_end": null,
"cds_length": 1728,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000968855.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638914.1",
"strand": true,
"transcript": "ENST00000968855.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3979,
"cdna_start": 840,
"cds_end": null,
"cds_length": 1728,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000968856.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638915.1",
"strand": true,
"transcript": "ENST00000968856.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3889,
"cdna_start": 750,
"cds_end": null,
"cds_length": 1728,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000968857.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638916.1",
"strand": true,
"transcript": "ENST00000968857.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2635,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1728,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000968858.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638917.1",
"strand": true,
"transcript": "ENST00000968858.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 152,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 555,
"cdna_start": 469,
"cds_end": null,
"cds_length": 460,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000510183.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421486.1",
"strand": true,
"transcript": "ENST00000510183.1",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 147,
"aa_ref": "T",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 681,
"cdna_start": 609,
"cds_end": null,
"cds_length": 446,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000512137.5",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426301.1",
"strand": true,
"transcript": "ENST00000512137.5",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 120,
"aa_ref": "T",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 874,
"cdna_start": 736,
"cds_end": null,
"cds_length": 365,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000512662.5",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Thr76Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427447.1",
"strand": true,
"transcript": "ENST00000512662.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 88,
"aa_ref": "T",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 823,
"cdna_start": 782,
"cds_end": null,
"cds_length": 268,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000514894.5",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Thr76Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422072.1",
"strand": true,
"transcript": "ENST00000514894.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 105,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": null,
"cds_end": null,
"cds_length": 318,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282865.2",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.41-10095C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269794.1",
"strand": true,
"transcript": "NM_001282865.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 105,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2470,
"cdna_start": null,
"cds_end": null,
"cds_length": 318,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000508711.5",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.41-10095C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424897.1",
"strand": true,
"transcript": "ENST00000508711.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 105,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": null,
"cds_end": null,
"cds_length": 318,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930512.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.41-10095C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600571.1",
"strand": true,
"transcript": "ENST00000930512.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 105,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 822,
"cdna_start": null,
"cds_end": null,
"cds_length": 318,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930513.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.41-10095C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600572.1",
"strand": true,
"transcript": "ENST00000930513.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 105,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 831,
"cdna_start": null,
"cds_end": null,
"cds_length": 318,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930520.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.41-10095C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600579.1",
"strand": true,
"transcript": "ENST00000930520.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 458,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000768831.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000300103",
"hgvs_c": "n.79+1578G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000768831.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1271,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000768832.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000300103",
"hgvs_c": "n.314+1578G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000768832.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_189054.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC101927432",
"hgvs_c": "n.131+1578G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_189054.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 70,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 510,
"cdna_start": null,
"cds_end": null,
"cds_length": 215,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000511555.5",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.*159C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422196.1",
"strand": true,
"transcript": "ENST00000511555.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs371885570",
"effect": "missense_variant",
"frequency_reference_population": 0.0000043372174,
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"gnomad_exomes_ac": 6,
"gnomad_exomes_af": 0.00000410448,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657376,
"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": "Benign",
"phylop100way_score": 1.503,
"pos": 133380085,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.044,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_023943.4"
}
]
}