← 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: 19-55313014-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55313014&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55313014,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000326652.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Ala183Pro",
"transcript": "NM_001282011.2",
"protein_id": "NP_001268940.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 233,
"cds_start": 547,
"cds_end": null,
"cds_length": 702,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 983,
"mane_select": "ENST00000326652.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Ala183Pro",
"transcript": "ENST00000326652.9",
"protein_id": "ENSP00000320757.4",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 233,
"cds_start": 547,
"cds_end": null,
"cds_length": 702,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 983,
"mane_select": "NM_001282011.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "n.*287G>C",
"hgvs_p": null,
"transcript": "ENST00000586609.5",
"protein_id": "ENSP00000466957.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "n.*287G>C",
"hgvs_p": null,
"transcript": "ENST00000592603.5",
"protein_id": "ENSP00000468745.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "n.*287G>C",
"hgvs_p": null,
"transcript": "ENST00000586609.5",
"protein_id": "ENSP00000466957.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "n.*287G>C",
"hgvs_p": null,
"transcript": "ENST00000592603.5",
"protein_id": "ENSP00000468745.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Ala183Pro",
"transcript": "NM_001085488.3",
"protein_id": "NP_001078957.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 233,
"cds_start": 547,
"cds_end": null,
"cds_length": 702,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.412G>C",
"hgvs_p": "p.Ala138Pro",
"transcript": "ENST00000585918.5",
"protein_id": "ENSP00000465672.2",
"transcript_support_level": 2,
"aa_start": 138,
"aa_end": null,
"aa_length": 151,
"cds_start": 412,
"cds_end": null,
"cds_length": 457,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Ala183Pro",
"transcript": "XM_005258812.5",
"protein_id": "XP_005258869.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 233,
"cds_start": 547,
"cds_end": null,
"cds_length": 702,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 1106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Ala183Pro",
"transcript": "XM_011526854.4",
"protein_id": "XP_011525156.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 233,
"cds_start": 547,
"cds_end": null,
"cds_length": 702,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Ala183Pro",
"transcript": "XM_011526856.4",
"protein_id": "XP_011525158.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 233,
"cds_start": 547,
"cds_end": null,
"cds_length": 702,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Ala183Pro",
"transcript": "XM_017026667.3",
"protein_id": "XP_016882156.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 233,
"cds_start": 547,
"cds_end": null,
"cds_length": 702,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Ala183Pro",
"transcript": "XM_047438668.1",
"protein_id": "XP_047294624.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 233,
"cds_start": 547,
"cds_end": null,
"cds_length": 702,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Ala183Pro",
"transcript": "XM_047438669.1",
"protein_id": "XP_047294625.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 233,
"cds_start": 547,
"cds_end": null,
"cds_length": 702,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Ala183Pro",
"transcript": "XM_047438670.1",
"protein_id": "XP_047294626.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 233,
"cds_start": 547,
"cds_end": null,
"cds_length": 702,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Ala183Pro",
"transcript": "XM_047438671.1",
"protein_id": "XP_047294627.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 233,
"cds_start": 547,
"cds_end": null,
"cds_length": 702,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Ala183Pro",
"transcript": "XM_047438672.1",
"protein_id": "XP_047294628.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 233,
"cds_start": 547,
"cds_end": null,
"cds_length": 702,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Ala183Pro",
"transcript": "XM_047438673.1",
"protein_id": "XP_047294629.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 233,
"cds_start": 547,
"cds_end": null,
"cds_length": 702,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 1216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Ala183Pro",
"transcript": "XM_047438674.1",
"protein_id": "XP_047294630.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 233,
"cds_start": 547,
"cds_end": null,
"cds_length": 702,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.367G>C",
"hgvs_p": "p.Ala123Pro",
"transcript": "XM_011526857.3",
"protein_id": "XP_011525159.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 173,
"cds_start": 367,
"cds_end": null,
"cds_length": 522,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.367G>C",
"hgvs_p": "p.Ala123Pro",
"transcript": "XM_047438675.1",
"protein_id": "XP_047294631.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 173,
"cds_start": 367,
"cds_end": null,
"cds_length": 522,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "n.*175G>C",
"hgvs_p": null,
"transcript": "ENST00000592731.5",
"protein_id": "ENSP00000465815.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "n.702G>C",
"hgvs_p": null,
"transcript": "NR_104066.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "n.653G>C",
"hgvs_p": null,
"transcript": "NR_104071.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "n.*175G>C",
"hgvs_p": null,
"transcript": "ENST00000592731.5",
"protein_id": "ENSP00000465815.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"hgvs_c": "c.506-2719G>C",
"hgvs_p": null,
"transcript": "XM_011526850.4",
"protein_id": "XP_011525152.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": -4,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMEM150B",
"gene_hgnc_id": 34415,
"dbsnp": "rs1249063566",
"frequency_reference_population": 6.844018e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84402e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7994955778121948,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": 0.6068,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.378,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000326652.9",
"gene_symbol": "TMEM150B",
"hgnc_id": 34415,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Ala183Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}