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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: 16-28843035-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28843035&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 28843035,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_003321.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1308C>T",
"hgvs_p": "p.Thr436Thr",
"transcript": "NM_003321.5",
"protein_id": "NP_003312.3",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 455,
"cds_start": 1308,
"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": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1308C>T",
"hgvs_p": "p.Thr436Thr",
"transcript": "ENST00000313511.8",
"protein_id": "ENSP00000322439.3",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 455,
"cds_start": 1308,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1407C>T",
"hgvs_p": "p.Thr469Thr",
"transcript": "ENST00000916490.1",
"protein_id": "ENSP00000586549.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 488,
"cds_start": 1407,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1353C>T",
"hgvs_p": "p.Thr451Thr",
"transcript": "ENST00000916489.1",
"protein_id": "ENSP00000586548.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 470,
"cds_start": 1353,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1332C>T",
"hgvs_p": "p.Thr444Thr",
"transcript": "ENST00000864063.1",
"protein_id": "ENSP00000534122.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 463,
"cds_start": 1332,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1323C>T",
"hgvs_p": "p.Thr441Thr",
"transcript": "ENST00000864058.1",
"protein_id": "ENSP00000534117.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 460,
"cds_start": 1323,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1323C>T",
"hgvs_p": "p.Thr441Thr",
"transcript": "ENST00000864060.1",
"protein_id": "ENSP00000534119.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 460,
"cds_start": 1323,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1305C>T",
"hgvs_p": "p.Thr435Thr",
"transcript": "ENST00000916488.1",
"protein_id": "ENSP00000586547.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 454,
"cds_start": 1305,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1302C>T",
"hgvs_p": "p.Thr434Thr",
"transcript": "ENST00000864064.1",
"protein_id": "ENSP00000534123.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 453,
"cds_start": 1302,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1296C>T",
"hgvs_p": "p.Thr432Thr",
"transcript": "ENST00000864066.1",
"protein_id": "ENSP00000534125.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 451,
"cds_start": 1296,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1287C>T",
"hgvs_p": "p.Thr429Thr",
"transcript": "ENST00000916493.1",
"protein_id": "ENSP00000586552.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 448,
"cds_start": 1287,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1281C>T",
"hgvs_p": "p.Thr427Thr",
"transcript": "ENST00000864062.1",
"protein_id": "ENSP00000534121.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 446,
"cds_start": 1281,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1272C>T",
"hgvs_p": "p.Thr424Thr",
"transcript": "ENST00000864068.1",
"protein_id": "ENSP00000534127.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 443,
"cds_start": 1272,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1263C>T",
"hgvs_p": "p.Thr421Thr",
"transcript": "ENST00000864059.1",
"protein_id": "ENSP00000534118.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 440,
"cds_start": 1263,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1257C>T",
"hgvs_p": "p.Thr419Thr",
"transcript": "ENST00000864067.1",
"protein_id": "ENSP00000534126.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 438,
"cds_start": 1257,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1224C>T",
"hgvs_p": "p.Thr408Thr",
"transcript": "NM_001365360.2",
"protein_id": "NP_001352289.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 427,
"cds_start": 1224,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1224C>T",
"hgvs_p": "p.Thr408Thr",
"transcript": "ENST00000864057.1",
"protein_id": "ENSP00000534116.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 427,
"cds_start": 1224,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1218C>T",
"hgvs_p": "p.Thr406Thr",
"transcript": "ENST00000916495.1",
"protein_id": "ENSP00000586554.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 425,
"cds_start": 1218,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1203C>T",
"hgvs_p": "p.Thr401Thr",
"transcript": "ENST00000864061.1",
"protein_id": "ENSP00000534120.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 420,
"cds_start": 1203,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1203C>T",
"hgvs_p": "p.Thr401Thr",
"transcript": "ENST00000864065.1",
"protein_id": "ENSP00000534124.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 420,
"cds_start": 1203,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1152C>T",
"hgvs_p": "p.Thr384Thr",
"transcript": "ENST00000916494.1",
"protein_id": "ENSP00000586553.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 403,
"cds_start": 1152,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1143C>T",
"hgvs_p": "p.Thr381Thr",
"transcript": "ENST00000916492.1",
"protein_id": "ENSP00000586551.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 400,
"cds_start": 1143,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1059C>T",
"hgvs_p": "p.Thr353Thr",
"transcript": "ENST00000916491.1",
"protein_id": "ENSP00000586550.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 372,
"cds_start": 1059,
"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.617C>T",
"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": "rs753124586",
"frequency_reference_population": 0.0000111518775,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000109448,
"gnomad_genomes_af": 0.0000131406,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.51,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_003321.5",
"gene_symbol": "TUFM",
"hgnc_id": 12420,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1308C>T",
"hgvs_p": "p.Thr436Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}