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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: 20-1181323-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=1181323&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 1181323,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018354.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "NM_001304748.2",
"protein_id": "NP_001291677.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000429036.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304748.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "ENST00000429036.2",
"protein_id": "ENSP00000400552.2",
"transcript_support_level": 3,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001304748.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429036.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "ENST00000381894.3",
"protein_id": "ENSP00000371318.3",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381894.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "NM_001387330.1",
"protein_id": "NP_001374259.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387330.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "NM_001387331.1",
"protein_id": "NP_001374260.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387331.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "NM_001387332.1",
"protein_id": "NP_001374261.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387332.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "NM_001387333.1",
"protein_id": "NP_001374262.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387333.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "NM_001387334.1",
"protein_id": "NP_001374263.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387334.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "NM_018354.3",
"protein_id": "NP_060824.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018354.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "ENST00000866484.1",
"protein_id": "ENSP00000536543.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866484.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "ENST00000866486.1",
"protein_id": "ENSP00000536544.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866486.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "ENST00000866487.1",
"protein_id": "ENSP00000536546.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866487.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "ENST00000935819.1",
"protein_id": "ENSP00000605878.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935819.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "ENST00000935820.1",
"protein_id": "ENSP00000605879.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935820.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "ENST00000964217.1",
"protein_id": "ENSP00000634276.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964217.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "ENST00000964218.1",
"protein_id": "ENSP00000634277.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964218.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "ENST00000964219.1",
"protein_id": "ENSP00000634278.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964219.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln",
"transcript": "ENST00000964220.1",
"protein_id": "ENSP00000634279.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 256,
"cds_start": 296,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964220.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Gln",
"transcript": "NM_001304749.2",
"protein_id": "NP_001291678.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 232,
"cds_start": 224,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304749.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Gln",
"transcript": "NM_001387329.1",
"protein_id": "NP_001374258.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 232,
"cds_start": 224,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387329.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Arg156Gln",
"transcript": "XM_011529281.3",
"protein_id": "XP_011527583.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 313,
"cds_start": 467,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529281.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"hgvs_c": "c.392G>A",
"hgvs_p": "p.Arg131Gln",
"transcript": "XM_017027923.2",
"protein_id": "XP_016883412.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 288,
"cds_start": 392,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027923.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
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"gene_symbol": "TMEM74B",
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"transcript": "XM_017027924.2",
"protein_id": "XP_016883413.1",
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"aa_start": 99,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017027924.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"gene_symbol": "TMEM74B",
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"transcript": "XM_047440257.1",
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"biotype": "protein_coding",
"feature": "XM_047440257.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 3,
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"intron_rank_end": null,
"gene_symbol": "TMEM74B",
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"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Gln",
"transcript": "XM_017027925.2",
"protein_id": "XP_016883414.1",
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"aa_start": 75,
"aa_end": null,
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"cds_start": 224,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_017027925.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "PSMF1",
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"hgvs_c": "c.243-5017C>T",
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"transcript": "ENST00000381898.5",
"protein_id": "ENSP00000371323.5",
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"aa_end": null,
"aa_length": 127,
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"cds_end": null,
"cds_length": 384,
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"biotype": "protein_coding",
"feature": "ENST00000381898.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 2,
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"gene_symbol": "TMEM74B",
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"hgvs_c": "n.543G>A",
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"transcript": "ENST00000481747.1",
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"biotype": "pseudogene",
"feature": "ENST00000481747.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
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"exon_count": 10,
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"gene_symbol": "PSMF1",
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"hgvs_c": "n.*675C>T",
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"transcript": "ENST00000652336.1",
"protein_id": "ENSP00000499011.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652336.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMF1",
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"hgvs_c": "n.*675C>T",
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"transcript": "ENST00000652336.1",
"protein_id": "ENSP00000499011.1",
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"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": "ENST00000652336.1"
}
],
"gene_symbol": "TMEM74B",
"gene_hgnc_id": 15893,
"dbsnp": "rs542183778",
"frequency_reference_population": 0.000038088674,
"hom_count_reference_population": 1,
"allele_count_reference_population": 61,
"gnomad_exomes_af": 0.0000379515,
"gnomad_genomes_af": 0.0000393939,
"gnomad_exomes_ac": 55,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.030439138412475586,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0728,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.672,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_018354.3",
"gene_symbol": "TMEM74B",
"hgnc_id": 15893,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.296G>A",
"hgvs_p": "p.Arg99Gln"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000381898.5",
"gene_symbol": "PSMF1",
"hgnc_id": 9571,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.243-5017C>T",
"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
}