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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: 2-85599135-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85599135&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85599135,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001031738.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"transcript": "NM_001031738.3",
"protein_id": "NP_001026908.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 271,
"cds_start": 757,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334462.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031738.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"transcript": "ENST00000334462.10",
"protein_id": "ENSP00000334708.5",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 271,
"cds_start": 757,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001031738.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334462.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Gly261Arg",
"transcript": "ENST00000898692.1",
"protein_id": "ENSP00000568751.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 279,
"cds_start": 781,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898692.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"transcript": "NM_001369917.1",
"protein_id": "NP_001356846.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 271,
"cds_start": 757,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369917.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"transcript": "ENST00000409668.1",
"protein_id": "ENSP00000387292.1",
"transcript_support_level": 2,
"aa_start": 253,
"aa_end": null,
"aa_length": 271,
"cds_start": 757,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409668.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"transcript": "ENST00000898691.1",
"protein_id": "ENSP00000568750.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 271,
"cds_start": 757,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898691.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"transcript": "ENST00000898694.1",
"protein_id": "ENSP00000568753.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 271,
"cds_start": 757,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898694.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"transcript": "ENST00000923606.1",
"protein_id": "ENSP00000593665.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 271,
"cds_start": 757,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923606.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"transcript": "ENST00000959580.1",
"protein_id": "ENSP00000629639.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 271,
"cds_start": 757,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959580.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Gly251Arg",
"transcript": "ENST00000898693.1",
"protein_id": "ENSP00000568752.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 269,
"cds_start": 751,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898693.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Gly251Arg",
"transcript": "ENST00000959579.1",
"protein_id": "ENSP00000629638.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 269,
"cds_start": 751,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959579.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Gly237Arg",
"transcript": "ENST00000898695.1",
"protein_id": "ENSP00000568754.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 255,
"cds_start": 709,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898695.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Gly237Arg",
"transcript": "ENST00000923607.1",
"protein_id": "ENSP00000593666.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 255,
"cds_start": 709,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923607.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Gly200Arg",
"transcript": "NM_153342.4",
"protein_id": "NP_699173.2",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 218,
"cds_start": 598,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153342.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"transcript": "XM_006711930.4",
"protein_id": "XP_006711993.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 271,
"cds_start": 757,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711930.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg",
"transcript": "XM_006711931.4",
"protein_id": "XP_006711994.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 271,
"cds_start": 757,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711931.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Gly229Arg",
"transcript": "XM_011532505.3",
"protein_id": "XP_011530807.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 247,
"cds_start": 685,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532505.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Gly206Arg",
"transcript": "XM_011532507.3",
"protein_id": "XP_011530809.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 224,
"cds_start": 616,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532507.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Gly206Arg",
"transcript": "XM_017003305.2",
"protein_id": "XP_016858794.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 224,
"cds_start": 616,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003305.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Gly200Arg",
"transcript": "XM_011532508.3",
"protein_id": "XP_011530810.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 218,
"cds_start": 598,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532508.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Gly200Arg",
"transcript": "XM_047443258.1",
"protein_id": "XP_047299214.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 218,
"cds_start": 598,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443258.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg",
"transcript": "XM_047443265.1",
"protein_id": "XP_047299221.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 187,
"cds_start": 505,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443265.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"feature": "ENST00000306353.8"
},
{
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"protein_coding": false,
"strand": false,
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],
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000422458.6"
},
{
"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_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
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"hgvs_c": "n.1737G>A",
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"transcript": "ENST00000431593.5",
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"transcript_support_level": 2,
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000431593.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "TMEM150A",
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"hgvs_c": "n.1253G>A",
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"transcript": "ENST00000444380.5",
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"feature": "ENST00000444380.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 2,
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"gene_symbol": "TMEM150A",
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"hgvs_c": "n.294G>A",
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"transcript": "ENST00000463363.1",
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"biotype": "retained_intron",
"feature": "ENST00000463363.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
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"transcript": "ENST00000306353.8",
"protein_id": "ENSP00000302715.4",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000306353.8"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"hgvs_c": "n.*589G>A",
"hgvs_p": null,
"transcript": "ENST00000422458.6",
"protein_id": "ENSP00000409224.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000422458.6"
}
],
"gene_symbol": "TMEM150A",
"gene_hgnc_id": 24677,
"dbsnp": "rs545219097",
"frequency_reference_population": 0.000030363683,
"hom_count_reference_population": 0,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.0000307877,
"gnomad_genomes_af": 0.0000262905,
"gnomad_exomes_ac": 45,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2000226080417633,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.166,
"revel_prediction": "Benign",
"alphamissense_score": 0.2321,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.312,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001031738.3",
"gene_symbol": "TMEM150A",
"hgnc_id": 24677,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Gly253Arg"
}
],
"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
}