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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: 7-150804437-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150804437&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 150804437,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018487.3",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "NM_018487.3",
"protein_id": "NP_060957.2",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 235,
"cds_start": 631,
"cds_end": null,
"cds_length": 708,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1033,
"mane_select": "ENST00000004103.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018487.3"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000004103.8",
"protein_id": "ENSP00000004103.3",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 235,
"cds_start": 631,
"cds_end": null,
"cds_length": 708,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1033,
"mane_select": "NM_018487.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000004103.8"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.811T>C",
"hgvs_p": "p.Trp271Arg",
"transcript": "ENST00000855170.1",
"protein_id": "ENSP00000525229.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 295,
"cds_start": 811,
"cds_end": null,
"cds_length": 888,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 1694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855170.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.811T>C",
"hgvs_p": "p.Trp271Arg",
"transcript": "ENST00000855172.1",
"protein_id": "ENSP00000525231.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 295,
"cds_start": 811,
"cds_end": null,
"cds_length": 888,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855172.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.811T>C",
"hgvs_p": "p.Trp271Arg",
"transcript": "ENST00000855186.1",
"protein_id": "ENSP00000525245.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 295,
"cds_start": 811,
"cds_end": null,
"cds_length": 888,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 1181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855186.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.715T>C",
"hgvs_p": "p.Trp239Arg",
"transcript": "ENST00000855171.1",
"protein_id": "ENSP00000525230.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 263,
"cds_start": 715,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855171.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.715T>C",
"hgvs_p": "p.Trp239Arg",
"transcript": "ENST00000855173.1",
"protein_id": "ENSP00000525232.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 263,
"cds_start": 715,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855173.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.715T>C",
"hgvs_p": "p.Trp239Arg",
"transcript": "ENST00000956676.1",
"protein_id": "ENSP00000626735.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 263,
"cds_start": 715,
"cds_end": null,
"cds_length": 792,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956676.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.658T>C",
"hgvs_p": "p.Trp220Arg",
"transcript": "ENST00000855177.1",
"protein_id": "ENSP00000525236.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 244,
"cds_start": 658,
"cds_end": null,
"cds_length": 735,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855177.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.658T>C",
"hgvs_p": "p.Trp220Arg",
"transcript": "ENST00000855178.1",
"protein_id": "ENSP00000525237.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 244,
"cds_start": 658,
"cds_end": null,
"cds_length": 735,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 1169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855178.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000484928.5",
"protein_id": "ENSP00000417626.1",
"transcript_support_level": 5,
"aa_start": 211,
"aa_end": null,
"aa_length": 235,
"cds_start": 631,
"cds_end": null,
"cds_length": 708,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484928.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000855157.1",
"protein_id": "ENSP00000525216.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 235,
"cds_start": 631,
"cds_end": null,
"cds_length": 708,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855157.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000855158.1",
"protein_id": "ENSP00000525217.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 235,
"cds_start": 631,
"cds_end": null,
"cds_length": 708,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855158.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000855159.1",
"protein_id": "ENSP00000525218.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 235,
"cds_start": 631,
"cds_end": null,
"cds_length": 708,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855159.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000855160.1",
"protein_id": "ENSP00000525219.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 235,
"cds_start": 631,
"cds_end": null,
"cds_length": 708,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855160.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000855161.1",
"protein_id": "ENSP00000525220.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 235,
"cds_start": 631,
"cds_end": null,
"cds_length": 708,
"cdna_start": 2479,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855161.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000855163.1",
"protein_id": "ENSP00000525222.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 235,
"cds_start": 631,
"cds_end": null,
"cds_length": 708,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855163.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000855164.1",
"protein_id": "ENSP00000525223.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 235,
"cds_start": 631,
"cds_end": null,
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"cdna_start": 843,
"cdna_end": null,
"cdna_length": 1171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855164.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000855165.1",
"protein_id": "ENSP00000525224.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 235,
"cds_start": 631,
"cds_end": null,
"cds_length": 708,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 1255,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855165.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000855168.1",
"protein_id": "ENSP00000525227.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 235,
"cds_start": 631,
"cds_end": null,
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"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855168.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000855174.1",
"protein_id": "ENSP00000525233.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 235,
"cds_start": 631,
"cds_end": null,
"cds_length": 708,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 1372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855174.1"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM176A",
"gene_hgnc_id": 24930,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg",
"transcript": "ENST00000855175.1",
"protein_id": "ENSP00000525234.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 235,
"cds_start": 631,
"cds_end": null,
"cds_length": 708,
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{
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{
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"feature": "XM_024446824.2"
},
{
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"strand": true,
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],
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"feature": "ENST00000474166.1"
},
{
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"strand": true,
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],
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{
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],
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{
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],
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},
{
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],
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"gene_symbol": "TMEM176A",
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"transcript": "ENST00000481305.1",
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"feature": "ENST00000481305.1"
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],
"gene_symbol": "TMEM176A",
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"dbsnp": "rs756348472",
"frequency_reference_population": 0.0000068406284,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684063,
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"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2565286159515381,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.158,
"revel_prediction": "Benign",
"alphamissense_score": 0.6894,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.152,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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_018487.3",
"gene_symbol": "TMEM176A",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Trp211Arg"
}
],
"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
}