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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: 22-38231330-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38231330&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38231330,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_012264.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "NM_012264.5",
"protein_id": "NP_036396.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 407,
"cds_start": 363,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361906.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012264.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000361906.8",
"protein_id": "ENSP00000355210.3",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 407,
"cds_start": 363,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012264.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361906.8"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000361684.8",
"protein_id": "ENSP00000354441.4",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 407,
"cds_start": 363,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361684.8"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "n.*245G>C",
"hgvs_p": null,
"transcript": "ENST00000436674.5",
"protein_id": "ENSP00000413085.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000436674.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "n.*245G>C",
"hgvs_p": null,
"transcript": "ENST00000436674.5",
"protein_id": "ENSP00000413085.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000436674.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000883825.1",
"protein_id": "ENSP00000553884.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 426,
"cds_start": 363,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883825.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000883824.1",
"protein_id": "ENSP00000553883.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 419,
"cds_start": 363,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883824.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000883827.1",
"protein_id": "ENSP00000553886.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 419,
"cds_start": 363,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883827.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "NM_001195071.1",
"protein_id": "NP_001182000.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 407,
"cds_start": 363,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195071.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000883826.1",
"protein_id": "ENSP00000553885.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 407,
"cds_start": 363,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883826.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000883828.1",
"protein_id": "ENSP00000553887.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 407,
"cds_start": 363,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883828.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000883831.1",
"protein_id": "ENSP00000553890.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 407,
"cds_start": 363,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883831.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000883832.1",
"protein_id": "ENSP00000553891.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 407,
"cds_start": 363,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883832.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000883833.1",
"protein_id": "ENSP00000553892.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 407,
"cds_start": 363,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883833.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000883834.1",
"protein_id": "ENSP00000553893.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 407,
"cds_start": 363,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883834.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000913389.1",
"protein_id": "ENSP00000583448.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 407,
"cds_start": 363,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913389.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000956215.1",
"protein_id": "ENSP00000626274.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 407,
"cds_start": 363,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956215.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000956216.1",
"protein_id": "ENSP00000626275.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 407,
"cds_start": 363,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956216.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000956214.1",
"protein_id": "ENSP00000626273.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 404,
"cds_start": 363,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956214.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000883830.1",
"protein_id": "ENSP00000553889.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 397,
"cds_start": 363,
"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": "ENST00000883830.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000883823.1",
"protein_id": "ENSP00000553882.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 390,
"cds_start": 363,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883823.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe",
"transcript": "ENST00000883829.1",
"protein_id": "ENSP00000553888.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 390,
"cds_start": 363,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474416.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "TMEM184B-AS1",
"gene_hgnc_id": 56716,
"hgvs_c": "n.11C>G",
"hgvs_p": null,
"transcript": "NR_186700.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_186700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "n.*34G>C",
"hgvs_p": null,
"transcript": "ENST00000457534.5",
"protein_id": "ENSP00000399073.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000457534.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "n.-12G>C",
"hgvs_p": null,
"transcript": "ENST00000488844.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000488844.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"hgvs_c": "n.*224G>C",
"hgvs_p": null,
"transcript": "ENST00000411679.2",
"protein_id": "ENSP00000393918.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000411679.2"
}
],
"gene_symbol": "TMEM184B",
"gene_hgnc_id": 1310,
"dbsnp": "rs773531524",
"frequency_reference_population": 0.000016730346,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000164191,
"gnomad_genomes_af": 0.000019721,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07950827479362488,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.129,
"revel_prediction": "Benign",
"alphamissense_score": 0.0439,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.21,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012264.5",
"gene_symbol": "TMEM184B",
"hgnc_id": 1310,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.363G>C",
"hgvs_p": "p.Leu121Phe"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000420172.1",
"gene_symbol": "TMEM184B-AS1",
"hgnc_id": 56716,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.11C>G",
"hgvs_p": null
}
],
"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
}