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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: 2-178123885-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178123885&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178123885,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001365579.1",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1041G>C",
"hgvs_p": "p.Trp347Cys",
"transcript": "NM_152945.4",
"protein_id": "NP_694453.2",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 474,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": "ENST00000286070.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152945.4"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1041G>C",
"hgvs_p": "p.Trp347Cys",
"transcript": "ENST00000286070.10",
"protein_id": "ENSP00000286070.5",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 474,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": "NM_152945.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286070.10"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1470G>C",
"hgvs_p": "p.Trp490Cys",
"transcript": "ENST00000861657.1",
"protein_id": "ENSP00000531716.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 617,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861657.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1470G>C",
"hgvs_p": "p.Trp490Cys",
"transcript": "ENST00000953979.1",
"protein_id": "ENSP00000624038.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 617,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1632,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953979.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1470G>C",
"hgvs_p": "p.Trp490Cys",
"transcript": "ENST00000953981.1",
"protein_id": "ENSP00000624040.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 617,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953981.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1290G>C",
"hgvs_p": "p.Trp430Cys",
"transcript": "ENST00000861659.1",
"protein_id": "ENSP00000531718.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 557,
"cds_start": 1290,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 2327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861659.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1047G>C",
"hgvs_p": "p.Trp349Cys",
"transcript": "NM_001365579.1",
"protein_id": "NP_001352508.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 476,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365579.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1041G>C",
"hgvs_p": "p.Trp347Cys",
"transcript": "NM_001365578.1",
"protein_id": "NP_001352507.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 474,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365578.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1041G>C",
"hgvs_p": "p.Trp347Cys",
"transcript": "ENST00000861654.1",
"protein_id": "ENSP00000531713.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 474,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 1804,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861654.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1041G>C",
"hgvs_p": "p.Trp347Cys",
"transcript": "ENST00000861655.1",
"protein_id": "ENSP00000531714.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 474,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861655.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1041G>C",
"hgvs_p": "p.Trp347Cys",
"transcript": "ENST00000861656.1",
"protein_id": "ENSP00000531715.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 474,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861656.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1041G>C",
"hgvs_p": "p.Trp347Cys",
"transcript": "ENST00000861658.1",
"protein_id": "ENSP00000531717.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 474,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861658.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1041G>C",
"hgvs_p": "p.Trp347Cys",
"transcript": "ENST00000914888.1",
"protein_id": "ENSP00000584947.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 474,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914888.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1032G>C",
"hgvs_p": "p.Trp344Cys",
"transcript": "ENST00000953980.1",
"protein_id": "ENSP00000624039.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 471,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953980.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "ENST00000455903.6",
"protein_id": "ENSP00000415940.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 134,
"cds_start": 21,
"cds_end": null,
"cds_length": 405,
"cdna_start": 23,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455903.6"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1470G>C",
"hgvs_p": "p.Trp490Cys",
"transcript": "XM_017003320.2",
"protein_id": "XP_016858809.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 617,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003320.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1470G>C",
"hgvs_p": "p.Trp490Cys",
"transcript": "XM_017003321.2",
"protein_id": "XP_016858810.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 617,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003321.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1470G>C",
"hgvs_p": "p.Trp490Cys",
"transcript": "XM_047443321.1",
"protein_id": "XP_047299277.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 617,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 4561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443321.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1470G>C",
"hgvs_p": "p.Trp490Cys",
"transcript": "XM_047443322.1",
"protein_id": "XP_047299278.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 617,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 7123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443322.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1041G>C",
"hgvs_p": "p.Trp347Cys",
"transcript": "XM_047443323.1",
"protein_id": "XP_047299279.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 474,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 6694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443323.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1041G>C",
"hgvs_p": "p.Trp347Cys",
"transcript": "XM_047443324.1",
"protein_id": "XP_047299280.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 474,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1151,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443324.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "n.1340G>C",
"hgvs_p": null,
"transcript": "ENST00000424000.6",
"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": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000424000.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "n.544G>C",
"hgvs_p": null,
"transcript": "ENST00000493048.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 735,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000493048.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "n.1580G>C",
"hgvs_p": null,
"transcript": "XR_007069526.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6953,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007069526.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "n.1151G>C",
"hgvs_p": null,
"transcript": "XR_007069527.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007069527.1"
}
],
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"dbsnp": "rs570468892",
"frequency_reference_population": 0.000023545566,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000239443,
"gnomad_genomes_af": 0.0000197153,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14420762658119202,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.147,
"revel_prediction": "Benign",
"alphamissense_score": 0.4298,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.201,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001365579.1",
"gene_symbol": "RBM45",
"hgnc_id": 24468,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1047G>C",
"hgvs_p": "p.Trp349Cys"
}
],
"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
}