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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: 16-28842995-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28842995&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 28842995,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003321.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1348A>G",
"hgvs_p": "p.Lys450Glu",
"transcript": "NM_003321.5",
"protein_id": "NP_003312.3",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 455,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313511.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003321.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1348A>G",
"hgvs_p": "p.Lys450Glu",
"transcript": "ENST00000313511.8",
"protein_id": "ENSP00000322439.3",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 455,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003321.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313511.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1447A>G",
"hgvs_p": "p.Lys483Glu",
"transcript": "ENST00000916490.1",
"protein_id": "ENSP00000586549.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 488,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916490.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1393A>G",
"hgvs_p": "p.Lys465Glu",
"transcript": "ENST00000916489.1",
"protein_id": "ENSP00000586548.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 470,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916489.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1372A>G",
"hgvs_p": "p.Lys458Glu",
"transcript": "ENST00000864063.1",
"protein_id": "ENSP00000534122.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 463,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864063.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1363A>G",
"hgvs_p": "p.Lys455Glu",
"transcript": "ENST00000864058.1",
"protein_id": "ENSP00000534117.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 460,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864058.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1363A>G",
"hgvs_p": "p.Lys455Glu",
"transcript": "ENST00000864060.1",
"protein_id": "ENSP00000534119.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 460,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864060.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1345A>G",
"hgvs_p": "p.Lys449Glu",
"transcript": "ENST00000916488.1",
"protein_id": "ENSP00000586547.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 454,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916488.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1342A>G",
"hgvs_p": "p.Lys448Glu",
"transcript": "ENST00000864064.1",
"protein_id": "ENSP00000534123.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 453,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864064.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1336A>G",
"hgvs_p": "p.Lys446Glu",
"transcript": "ENST00000864066.1",
"protein_id": "ENSP00000534125.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 451,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864066.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1327A>G",
"hgvs_p": "p.Lys443Glu",
"transcript": "ENST00000916493.1",
"protein_id": "ENSP00000586552.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 448,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916493.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1321A>G",
"hgvs_p": "p.Lys441Glu",
"transcript": "ENST00000864062.1",
"protein_id": "ENSP00000534121.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 446,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864062.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1312A>G",
"hgvs_p": "p.Lys438Glu",
"transcript": "ENST00000864068.1",
"protein_id": "ENSP00000534127.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 443,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864068.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1303A>G",
"hgvs_p": "p.Lys435Glu",
"transcript": "ENST00000864059.1",
"protein_id": "ENSP00000534118.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 440,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864059.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Lys433Glu",
"transcript": "ENST00000864067.1",
"protein_id": "ENSP00000534126.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 438,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864067.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1264A>G",
"hgvs_p": "p.Lys422Glu",
"transcript": "NM_001365360.2",
"protein_id": "NP_001352289.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 427,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365360.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1264A>G",
"hgvs_p": "p.Lys422Glu",
"transcript": "ENST00000864057.1",
"protein_id": "ENSP00000534116.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 427,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864057.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1258A>G",
"hgvs_p": "p.Lys420Glu",
"transcript": "ENST00000916495.1",
"protein_id": "ENSP00000586554.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 425,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916495.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1243A>G",
"hgvs_p": "p.Lys415Glu",
"transcript": "ENST00000864061.1",
"protein_id": "ENSP00000534120.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 420,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864061.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1243A>G",
"hgvs_p": "p.Lys415Glu",
"transcript": "ENST00000864065.1",
"protein_id": "ENSP00000534124.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 420,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864065.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1192A>G",
"hgvs_p": "p.Lys398Glu",
"transcript": "ENST00000916494.1",
"protein_id": "ENSP00000586553.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 403,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916494.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1183A>G",
"hgvs_p": "p.Lys395Glu",
"transcript": "ENST00000916492.1",
"protein_id": "ENSP00000586551.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 400,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916492.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "c.1099A>G",
"hgvs_p": "p.Lys367Glu",
"transcript": "ENST00000916491.1",
"protein_id": "ENSP00000586550.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 372,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916491.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"hgvs_c": "n.657A>G",
"hgvs_p": null,
"transcript": "ENST00000569217.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000569217.1"
}
],
"gene_symbol": "TUFM",
"gene_hgnc_id": 12420,
"dbsnp": "rs199674838",
"frequency_reference_population": 0.00008054153,
"hom_count_reference_population": 0,
"allele_count_reference_population": 130,
"gnomad_exomes_af": 0.0000848219,
"gnomad_genomes_af": 0.0000394249,
"gnomad_exomes_ac": 124,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1254798173904419,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.184,
"revel_prediction": "Benign",
"alphamissense_score": 0.0748,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.15,
"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_003321.5",
"gene_symbol": "TUFM",
"hgnc_id": 12420,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1348A>G",
"hgvs_p": "p.Lys450Glu"
}
],
"clinvar_disease": "Combined oxidative phosphorylation defect type 4,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|Combined oxidative phosphorylation defect type 4|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}