← Back to variant description
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: 8-132751925-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132751925&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 132751925,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001382396.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "NM_001382403.1",
"protein_id": "NP_001369332.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 295,
"cds_start": 174,
"cds_end": null,
"cds_length": 888,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": "ENST00000677595.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382403.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "ENST00000677595.1",
"protein_id": "ENSP00000504388.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 295,
"cds_start": 174,
"cds_end": null,
"cds_length": 888,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": "NM_001382403.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677595.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "ENST00000356838.7",
"protein_id": "ENSP00000349296.3",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 276,
"cds_start": 174,
"cds_end": null,
"cds_length": 831,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356838.7"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "ENST00000377901.8",
"protein_id": "ENSP00000367133.4",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 232,
"cds_start": 174,
"cds_end": null,
"cds_length": 699,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377901.8"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "NM_001382396.1",
"protein_id": "NP_001369325.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 338,
"cds_start": 174,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382396.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "NM_001382397.1",
"protein_id": "NP_001369326.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 316,
"cds_start": 174,
"cds_end": null,
"cds_length": 951,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382397.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "NM_001382402.1",
"protein_id": "NP_001369331.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 316,
"cds_start": 174,
"cds_end": null,
"cds_length": 951,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382402.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "ENST00000872715.1",
"protein_id": "ENSP00000542774.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 316,
"cds_start": 174,
"cds_end": null,
"cds_length": 951,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872715.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "ENST00000872714.1",
"protein_id": "ENSP00000542773.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 315,
"cds_start": 174,
"cds_end": null,
"cds_length": 948,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872714.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "NM_001382398.1",
"protein_id": "NP_001369327.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 313,
"cds_start": 174,
"cds_end": null,
"cds_length": 942,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382398.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "ENST00000523829.5",
"protein_id": "ENSP00000428228.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 313,
"cds_start": 174,
"cds_end": null,
"cds_length": 942,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523829.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.180C>G",
"hgvs_p": "p.His60Gln",
"transcript": "NM_001382399.1",
"protein_id": "NP_001369328.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 297,
"cds_start": 180,
"cds_end": null,
"cds_length": 894,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382399.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.180C>G",
"hgvs_p": "p.His60Gln",
"transcript": "ENST00000872713.1",
"protein_id": "ENSP00000542772.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 297,
"cds_start": 180,
"cds_end": null,
"cds_length": 894,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872713.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.180C>G",
"hgvs_p": "p.His60Gln",
"transcript": "NM_001382400.1",
"protein_id": "NP_001369329.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 296,
"cds_start": 180,
"cds_end": null,
"cds_length": 891,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382400.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "NM_001382404.1",
"protein_id": "NP_001369333.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 295,
"cds_start": 174,
"cds_end": null,
"cds_length": 888,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382404.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "ENST00000872716.1",
"protein_id": "ENSP00000542775.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 295,
"cds_start": 174,
"cds_end": null,
"cds_length": 888,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872716.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "ENST00000963931.1",
"protein_id": "ENSP00000633990.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 295,
"cds_start": 174,
"cds_end": null,
"cds_length": 888,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963931.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "NM_001364885.2",
"protein_id": "NP_001351814.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 294,
"cds_start": 174,
"cds_end": null,
"cds_length": 885,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364885.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "NM_001382405.1",
"protein_id": "NP_001369334.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 294,
"cds_start": 174,
"cds_end": null,
"cds_length": 885,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382405.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "ENST00000872711.1",
"protein_id": "ENSP00000542770.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 294,
"cds_start": 174,
"cds_end": null,
"cds_length": 885,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872711.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "ENST00000963932.1",
"protein_id": "ENSP00000633991.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 294,
"cds_start": 174,
"cds_end": null,
"cds_length": 885,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963932.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.159C>G",
"hgvs_p": "p.His53Gln",
"transcript": "NM_001382401.1",
"protein_id": "NP_001369330.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 290,
"cds_start": 159,
"cds_end": null,
"cds_length": 873,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382401.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "NM_144649.3",
"protein_id": "NP_653250.2",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 276,
"cds_start": 174,
"cds_end": null,
"cds_length": 831,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144649.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "ENST00000872712.1",
"protein_id": "ENSP00000542771.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 275,
"cds_start": 174,
"cds_end": null,
"cds_length": 828,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872712.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "NM_001145153.2",
"protein_id": "NP_001138625.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 232,
"cds_start": 174,
"cds_end": null,
"cds_length": 699,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145153.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "ENST00000519187.5",
"protein_id": "ENSP00000429873.1",
"transcript_support_level": 3,
"aa_start": 58,
"aa_end": null,
"aa_length": 98,
"cds_start": 174,
"cds_end": null,
"cds_length": 297,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519187.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "ENST00000519304.1",
"protein_id": "ENSP00000430239.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 90,
"cds_start": 174,
"cds_end": null,
"cds_length": 275,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519304.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln",
"transcript": "XM_047421363.1",
"protein_id": "XP_047277319.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 275,
"cds_start": 174,
"cds_end": null,
"cds_length": 828,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421363.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.-118C>G",
"hgvs_p": null,
"transcript": "ENST00000522334.5",
"protein_id": "ENSP00000430847.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": null,
"cds_end": null,
"cds_length": 190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522334.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "c.-118C>G",
"hgvs_p": null,
"transcript": "ENST00000519016.5",
"protein_id": "ENSP00000428397.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": null,
"cds_end": null,
"cds_length": 124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519016.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"hgvs_c": "n.379C>G",
"hgvs_p": null,
"transcript": "ENST00000517538.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 590,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000517538.1"
}
],
"gene_symbol": "TMEM71",
"gene_hgnc_id": 26572,
"dbsnp": "rs368405244",
"frequency_reference_population": 0.000060713744,
"hom_count_reference_population": 0,
"allele_count_reference_population": 98,
"gnomad_exomes_af": 0.0000656721,
"gnomad_genomes_af": 0.0000131299,
"gnomad_exomes_ac": 96,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.019969522953033447,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.1697,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.392,
"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_001382396.1",
"gene_symbol": "TMEM71",
"hgnc_id": 26572,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.174C>G",
"hgvs_p": "p.His58Gln"
}
],
"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
}