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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: 19-11345388-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11345388&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11345388,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033408.4",
"consequences": [
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "NM_198536.3",
"protein_id": "NP_940938.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354882.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198536.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "ENST00000354882.10",
"protein_id": "ENSP00000346954.4",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198536.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354882.10"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "ENST00000593256.6",
"protein_id": "ENSP00000468733.1",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593256.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "NM_001145416.2",
"protein_id": "NP_001138888.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145416.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "NM_001321112.2",
"protein_id": "NP_001308041.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321112.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "NM_001321113.2",
"protein_id": "NP_001308042.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321113.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "NM_001321114.2",
"protein_id": "NP_001308043.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321114.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "NM_033408.4",
"protein_id": "NP_212133.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033408.4"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "ENST00000447337.5",
"protein_id": "ENSP00000398258.1",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447337.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "ENST00000586590.5",
"protein_id": "ENSP00000466986.1",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586590.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "ENST00000586956.5",
"protein_id": "ENSP00000465483.1",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586956.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "ENST00000587948.5",
"protein_id": "ENSP00000465149.1",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587948.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "ENST00000588560.5",
"protein_id": "ENSP00000466495.1",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588560.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "ENST00000589555.5",
"protein_id": "ENSP00000465553.1",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589555.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "ENST00000853514.1",
"protein_id": "ENSP00000523573.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853514.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "ENST00000590482.5",
"protein_id": "ENSP00000466180.1",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 169,
"cds_start": 128,
"cds_end": null,
"cds_length": 512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590482.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "ENST00000591677.5",
"protein_id": "ENSP00000465283.1",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 106,
"cds_start": 128,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591677.5"
},
{
"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": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "ENST00000590788.1",
"protein_id": "ENSP00000468056.1",
"transcript_support_level": 3,
"aa_start": 43,
"aa_end": null,
"aa_length": 87,
"cds_start": 128,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590788.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "XM_005259899.3",
"protein_id": "XP_005259956.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259899.3"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "XM_024451500.2",
"protein_id": "XP_024307268.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451500.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "XM_024451501.2",
"protein_id": "XP_024307269.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 189,
"cds_start": 128,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451501.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"hgvs_c": "c.-56G>A",
"hgvs_p": null,
"transcript": "ENST00000586218.5",
"protein_id": "ENSP00000467493.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586218.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
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"hgvs_c": "c.-56G>A",
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"transcript": "ENST00000586701.1",
"protein_id": "ENSP00000466310.1",
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"aa_end": null,
"aa_length": 119,
"cds_start": null,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586701.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "CCDC159",
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"hgvs_c": "c.-367+7C>T",
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"transcript": "ENST00000588790.5",
"protein_id": "ENSP00000468232.1",
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"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588790.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB3D",
"gene_hgnc_id": 9779,
"hgvs_c": "c.-62+739G>A",
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"transcript": "ENST00000589655.1",
"protein_id": "ENSP00000466000.1",
"transcript_support_level": 2,
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"aa_end": null,
"aa_length": 219,
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"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589655.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
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"hgvs_c": "c.100+132G>A",
"hgvs_p": null,
"transcript": "ENST00000592952.5",
"protein_id": "ENSP00000466672.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 371,
"cdna_start": null,
"cdna_end": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592952.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
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"hgvs_c": "n.668G>A",
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"transcript": "ENST00000585722.1",
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"aa_end": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000585722.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM205",
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"hgvs_c": "n.869G>A",
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"transcript": "ENST00000588321.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000588321.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.263+7C>T",
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"transcript": "ENST00000587100.1",
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"transcript_support_level": 4,
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"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": "ENST00000587100.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "CCDC159",
"gene_hgnc_id": 26996,
"hgvs_c": "n.274+7C>T",
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"transcript": "ENST00000589186.5",
"protein_id": null,
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"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": "ENST00000589186.5"
}
],
"gene_symbol": "TMEM205",
"gene_hgnc_id": 29631,
"dbsnp": "rs1301481073",
"frequency_reference_population": 0.000012312979,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.000012313,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9332122802734375,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.578,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2603,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.244,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033408.4",
"gene_symbol": "TMEM205",
"hgnc_id": 29631,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000589655.1",
"gene_symbol": "RAB3D",
"hgnc_id": 9779,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-62+739G>A",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000587100.1",
"gene_symbol": "CCDC159",
"hgnc_id": 26996,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.263+7C>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
}