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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: 11-67464809-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67464809&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67464809,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_025124.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "c.499C>G",
"hgvs_p": "p.Pro167Ala",
"transcript": "NM_025124.4",
"protein_id": "NP_079400.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 195,
"cds_start": 499,
"cds_end": null,
"cds_length": 588,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 3551,
"mane_select": "ENST00000308022.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025124.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "c.499C>G",
"hgvs_p": "p.Pro167Ala",
"transcript": "ENST00000308022.7",
"protein_id": "ENSP00000312615.2",
"transcript_support_level": 2,
"aa_start": 167,
"aa_end": null,
"aa_length": 195,
"cds_start": 499,
"cds_end": null,
"cds_length": 588,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 3551,
"mane_select": "NM_025124.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308022.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "c.454C>G",
"hgvs_p": "p.Pro152Ala",
"transcript": "ENST00000393877.3",
"protein_id": "ENSP00000377455.3",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 180,
"cds_start": 454,
"cds_end": null,
"cds_length": 543,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393877.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "n.*87C>G",
"hgvs_p": null,
"transcript": "ENST00000545682.5",
"protein_id": "ENSP00000438439.1",
"transcript_support_level": 1,
"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": 1063,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000545682.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "n.*87C>G",
"hgvs_p": null,
"transcript": "ENST00000545682.5",
"protein_id": "ENSP00000438439.1",
"transcript_support_level": 1,
"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": 1063,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000545682.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "c.535C>G",
"hgvs_p": "p.Pro179Ala",
"transcript": "ENST00000909812.1",
"protein_id": "ENSP00000579871.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 207,
"cds_start": 535,
"cds_end": null,
"cds_length": 624,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909812.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "c.490C>G",
"hgvs_p": "p.Pro164Ala",
"transcript": "ENST00000909813.1",
"protein_id": "ENSP00000579872.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 192,
"cds_start": 490,
"cds_end": null,
"cds_length": 579,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909813.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "c.472C>G",
"hgvs_p": "p.Pro158Ala",
"transcript": "NM_001078651.3",
"protein_id": "NP_001072119.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 186,
"cds_start": 472,
"cds_end": null,
"cds_length": 561,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001078651.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "c.472C>G",
"hgvs_p": "p.Pro158Ala",
"transcript": "ENST00000909810.1",
"protein_id": "ENSP00000579869.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 186,
"cds_start": 472,
"cds_end": null,
"cds_length": 561,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909810.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "c.454C>G",
"hgvs_p": "p.Pro152Ala",
"transcript": "NM_001078650.3",
"protein_id": "NP_001072118.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 180,
"cds_start": 454,
"cds_end": null,
"cds_length": 543,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001078650.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "c.427C>G",
"hgvs_p": "p.Pro143Ala",
"transcript": "ENST00000909811.1",
"protein_id": "ENSP00000579870.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 171,
"cds_start": 427,
"cds_end": null,
"cds_length": 516,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909811.1"
},
{
"aa_ref": "C",
"aa_alt": "W",
"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": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "c.462C>G",
"hgvs_p": "p.Cys154Trp",
"transcript": "ENST00000909814.1",
"protein_id": "ENSP00000579873.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 171,
"cds_start": 462,
"cds_end": null,
"cds_length": 516,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909814.1"
},
{
"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": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "c.425-113C>G",
"hgvs_p": null,
"transcript": "ENST00000952655.1",
"protein_id": "ENSP00000622714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952655.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "c.407-113C>G",
"hgvs_p": null,
"transcript": "ENST00000932053.1",
"protein_id": "ENSP00000602112.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932053.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "c.212-113C>G",
"hgvs_p": null,
"transcript": "ENST00000535813.5",
"protein_id": "ENSP00000481549.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 97,
"cds_start": null,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535813.5"
},
{
"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": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "n.326C>G",
"hgvs_p": null,
"transcript": "ENST00000535175.5",
"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": 565,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000535175.5"
},
{
"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": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "n.*105C>G",
"hgvs_p": null,
"transcript": "ENST00000536020.5",
"protein_id": "ENSP00000440630.1",
"transcript_support_level": 3,
"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": 680,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000536020.5"
},
{
"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": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "n.432C>G",
"hgvs_p": null,
"transcript": "ENST00000537601.5",
"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": 512,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000537601.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "n.*393C>G",
"hgvs_p": null,
"transcript": "ENST00000541059.5",
"protein_id": "ENSP00000483083.1",
"transcript_support_level": 3,
"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": 716,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000541059.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "n.300C>G",
"hgvs_p": null,
"transcript": "ENST00000543661.1",
"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": 610,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000543661.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "n.725C>G",
"hgvs_p": null,
"transcript": "NR_073409.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_073409.2"
},
{
"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": "TMEM134",
"gene_hgnc_id": 26142,
"hgvs_c": "n.497C>G",
"hgvs_p": null,
"transcript": "NR_073410.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3490,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_073410.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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{
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{
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{
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{
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"transcript": "ENST00000541059.5",
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "TMEM134",
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"dbsnp": "rs1268477832",
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"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": 0.8298022747039795,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.442,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9023,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.392,
"phylop100way_prediction": "Uncertain_significance",
"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,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_025124.4",
"gene_symbol": "TMEM134",
"hgnc_id": 26142,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.499C>G",
"hgvs_p": "p.Pro167Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}