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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: 8-55762839-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=55762839&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 55762839,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001286657.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "NM_001286657.2",
"protein_id": "NP_001273586.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 324,
"cds_start": 121,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000434581.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286657.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"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": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "ENST00000434581.7",
"protein_id": "ENSP00000395204.2",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 324,
"cds_start": 121,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001286657.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434581.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "ENST00000521229.5",
"protein_id": "ENSP00000429210.1",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 135,
"cds_start": 121,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521229.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "NM_001363176.1",
"protein_id": "NP_001350105.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 324,
"cds_start": 121,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363176.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "ENST00000617782.4",
"protein_id": "ENSP00000478242.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 324,
"cds_start": 121,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617782.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "ENST00000881275.1",
"protein_id": "ENSP00000551334.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 324,
"cds_start": 121,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881275.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "ENST00000881277.1",
"protein_id": "ENSP00000551336.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 324,
"cds_start": 121,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881277.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "ENST00000939843.1",
"protein_id": "ENSP00000609902.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 324,
"cds_start": 121,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939843.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "ENST00000939844.1",
"protein_id": "ENSP00000609903.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 324,
"cds_start": 121,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939844.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "ENST00000881276.1",
"protein_id": "ENSP00000551335.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 295,
"cds_start": 121,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881276.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "NM_152417.3",
"protein_id": "NP_689630.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 257,
"cds_start": 121,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152417.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "ENST00000334667.6",
"protein_id": "ENSP00000335416.2",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 257,
"cds_start": 121,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334667.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "ENST00000881274.1",
"protein_id": "ENSP00000551333.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 257,
"cds_start": 121,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881274.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "ENST00000522090.5",
"protein_id": "ENSP00000430542.1",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 242,
"cds_start": 121,
"cds_end": null,
"cds_length": 731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522090.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "ENST00000523423.5",
"protein_id": "ENSP00000429175.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 163,
"cds_start": 121,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523423.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "ENST00000522030.1",
"protein_id": "ENSP00000430838.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 143,
"cds_start": 121,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522030.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "NM_001286660.2",
"protein_id": "NP_001273589.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 135,
"cds_start": 121,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286660.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "ENST00000522576.5",
"protein_id": "ENSP00000431047.1",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 135,
"cds_start": 121,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522576.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "ENST00000520414.5",
"protein_id": "ENSP00000429758.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 125,
"cds_start": 121,
"cds_end": null,
"cds_length": 379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520414.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr",
"transcript": "XM_047421360.1",
"protein_id": "XP_047277316.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 251,
"cds_start": 121,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421360.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.-18+1097G>A",
"hgvs_p": null,
"transcript": "NM_001363177.1",
"protein_id": "NP_001350106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363177.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "c.-18+1097G>A",
"hgvs_p": null,
"transcript": "ENST00000519780.5",
"protein_id": "ENSP00000429667.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519780.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 5,
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},
{
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],
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"feature": "ENST00000523073.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "TMEM68",
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"transcript": "ENST00000519784.5",
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"biotype": "protein_coding",
"feature": "ENST00000519784.5"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 7,
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"gene_symbol": "TMEM68",
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"hgvs_c": "c.-18+1097G>A",
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"transcript": "XM_047421361.1",
"protein_id": "XP_047277317.1",
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"biotype": "protein_coding",
"feature": "XM_047421361.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 7,
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"intron_rank_end": null,
"gene_symbol": "TMEM68",
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"hgvs_c": "n.345G>A",
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"transcript": "NR_156454.1",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_156454.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
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"gene_symbol": "TMEM68",
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"hgvs_c": "c.*115G>A",
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"transcript": "ENST00000523180.5",
"protein_id": "ENSP00000427939.1",
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"cds_length": 6,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523180.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM68",
"gene_hgnc_id": 26510,
"hgvs_c": "n.-66G>A",
"hgvs_p": null,
"transcript": "ENST00000520061.5",
"protein_id": "ENSP00000428236.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000520061.5"
}
],
"gene_symbol": "TMEM68",
"gene_hgnc_id": 26510,
"dbsnp": "rs772416639",
"frequency_reference_population": 0.00000136815,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136815,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1500655710697174,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.379,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0868,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.03,
"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_001286657.2",
"gene_symbol": "TMEM68",
"hgnc_id": 26510,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Ala41Thr"
}
],
"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
}