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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: 2-178124209-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178124209&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178124209,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001365579.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1151C>G",
"hgvs_p": "p.Ala384Gly",
"transcript": "NM_152945.4",
"protein_id": "NP_694453.2",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 474,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000286070.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152945.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1151C>G",
"hgvs_p": "p.Ala384Gly",
"transcript": "ENST00000286070.10",
"protein_id": "ENSP00000286070.5",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 474,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152945.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286070.10"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1580C>G",
"hgvs_p": "p.Ala527Gly",
"transcript": "ENST00000861657.1",
"protein_id": "ENSP00000531716.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 617,
"cds_start": 1580,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861657.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1580C>G",
"hgvs_p": "p.Ala527Gly",
"transcript": "ENST00000953979.1",
"protein_id": "ENSP00000624038.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 617,
"cds_start": 1580,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953979.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1580C>G",
"hgvs_p": "p.Ala527Gly",
"transcript": "ENST00000953981.1",
"protein_id": "ENSP00000624040.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 617,
"cds_start": 1580,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953981.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1400C>G",
"hgvs_p": "p.Ala467Gly",
"transcript": "ENST00000861659.1",
"protein_id": "ENSP00000531718.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 557,
"cds_start": 1400,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861659.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1157C>G",
"hgvs_p": "p.Ala386Gly",
"transcript": "NM_001365579.1",
"protein_id": "NP_001352508.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 476,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365579.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1151C>G",
"hgvs_p": "p.Ala384Gly",
"transcript": "NM_001365578.1",
"protein_id": "NP_001352507.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 474,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365578.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1151C>G",
"hgvs_p": "p.Ala384Gly",
"transcript": "ENST00000861654.1",
"protein_id": "ENSP00000531713.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 474,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861654.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1151C>G",
"hgvs_p": "p.Ala384Gly",
"transcript": "ENST00000861655.1",
"protein_id": "ENSP00000531714.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 474,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861655.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1151C>G",
"hgvs_p": "p.Ala384Gly",
"transcript": "ENST00000861656.1",
"protein_id": "ENSP00000531715.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 474,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861656.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1151C>G",
"hgvs_p": "p.Ala384Gly",
"transcript": "ENST00000861658.1",
"protein_id": "ENSP00000531717.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 474,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861658.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1151C>G",
"hgvs_p": "p.Ala384Gly",
"transcript": "ENST00000914888.1",
"protein_id": "ENSP00000584947.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 474,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914888.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1142C>G",
"hgvs_p": "p.Ala381Gly",
"transcript": "ENST00000953980.1",
"protein_id": "ENSP00000624039.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 471,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953980.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.131C>G",
"hgvs_p": "p.Ala44Gly",
"transcript": "ENST00000455903.6",
"protein_id": "ENSP00000415940.1",
"transcript_support_level": 3,
"aa_start": 44,
"aa_end": null,
"aa_length": 134,
"cds_start": 131,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455903.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1580C>G",
"hgvs_p": "p.Ala527Gly",
"transcript": "XM_017003320.2",
"protein_id": "XP_016858809.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 617,
"cds_start": 1580,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003320.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1580C>G",
"hgvs_p": "p.Ala527Gly",
"transcript": "XM_017003321.2",
"protein_id": "XP_016858810.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 617,
"cds_start": 1580,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003321.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1580C>G",
"hgvs_p": "p.Ala527Gly",
"transcript": "XM_047443321.1",
"protein_id": "XP_047299277.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 617,
"cds_start": 1580,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443321.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1580C>G",
"hgvs_p": "p.Ala527Gly",
"transcript": "XM_047443322.1",
"protein_id": "XP_047299278.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 617,
"cds_start": 1580,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443322.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1151C>G",
"hgvs_p": "p.Ala384Gly",
"transcript": "XM_047443323.1",
"protein_id": "XP_047299279.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 474,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443323.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "c.1151C>G",
"hgvs_p": "p.Ala384Gly",
"transcript": "XM_047443324.1",
"protein_id": "XP_047299280.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 474,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "n.1450C>G",
"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": null,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "n.654C>G",
"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": null,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "n.1690C>G",
"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": null,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"hgvs_c": "n.1261C>G",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007069527.1"
}
],
"gene_symbol": "RBM45",
"gene_hgnc_id": 24468,
"dbsnp": "rs1473237490",
"frequency_reference_population": 0.0000068304485,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000685709,
"gnomad_genomes_af": 0.00000657497,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16631421446800232,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.098,
"revel_prediction": "Benign",
"alphamissense_score": 0.0992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.598,
"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_001365579.1",
"gene_symbol": "RBM45",
"hgnc_id": 24468,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1157C>G",
"hgvs_p": "p.Ala386Gly"
}
],
"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
}