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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: 22-50531247-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50531247&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50531247,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001382808.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.362C>G",
"hgvs_p": "p.Pro121Arg",
"transcript": "NM_001014440.4",
"protein_id": "NP_001014440.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 253,
"cds_start": 362,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000329363.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014440.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.362C>G",
"hgvs_p": "p.Pro121Arg",
"transcript": "ENST00000329363.9",
"protein_id": "ENSP00000382804.2",
"transcript_support_level": 5,
"aa_start": 121,
"aa_end": null,
"aa_length": 253,
"cds_start": 362,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001014440.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329363.9"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.362C>G",
"hgvs_p": "p.Pro121Arg",
"transcript": "ENST00000428989.3",
"protein_id": "ENSP00000390712.3",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 261,
"cds_start": 362,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428989.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Ala97Ala",
"transcript": "ENST00000401779.5",
"protein_id": "ENSP00000384310.1",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 242,
"cds_start": 291,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401779.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "n.576C>G",
"hgvs_p": null,
"transcript": "ENST00000468249.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000468249.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.362C>G",
"hgvs_p": "p.Pro121Arg",
"transcript": "NM_001382808.1",
"protein_id": "NP_001369737.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 261,
"cds_start": 362,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382808.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.362C>G",
"hgvs_p": "p.Pro121Arg",
"transcript": "ENST00000682240.1",
"protein_id": "ENSP00000507825.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 253,
"cds_start": 362,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682240.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.362C>G",
"hgvs_p": "p.Pro121Arg",
"transcript": "ENST00000857928.1",
"protein_id": "ENSP00000527987.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 253,
"cds_start": 362,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857928.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.362C>G",
"hgvs_p": "p.Pro121Arg",
"transcript": "ENST00000857930.1",
"protein_id": "ENSP00000527989.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 253,
"cds_start": 362,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857930.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.362C>G",
"hgvs_p": "p.Pro121Arg",
"transcript": "ENST00000857931.1",
"protein_id": "ENSP00000527990.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 245,
"cds_start": 362,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857931.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Pro96Arg",
"transcript": "ENST00000857929.1",
"protein_id": "ENSP00000527988.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 228,
"cds_start": 287,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857929.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.362C>G",
"hgvs_p": "p.Pro121Arg",
"transcript": "ENST00000857932.1",
"protein_id": "ENSP00000527991.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 206,
"cds_start": 362,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857932.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Pro53Arg",
"transcript": "ENST00000913608.1",
"protein_id": "ENSP00000583667.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 193,
"cds_start": 158,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913608.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Pro53Arg",
"transcript": "NM_001410791.1",
"protein_id": "NP_001397720.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 185,
"cds_start": 158,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410791.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Pro53Arg",
"transcript": "ENST00000403326.5",
"protein_id": "ENSP00000385123.1",
"transcript_support_level": 3,
"aa_start": 53,
"aa_end": null,
"aa_length": 185,
"cds_start": 158,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403326.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.362C>G",
"hgvs_p": "p.Pro121Arg",
"transcript": "XM_047441378.1",
"protein_id": "XP_047297334.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 272,
"cds_start": 362,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441378.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.362C>G",
"hgvs_p": "p.Pro121Arg",
"transcript": "XM_047441379.1",
"protein_id": "XP_047297335.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 272,
"cds_start": 362,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441379.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.362C>G",
"hgvs_p": "p.Pro121Arg",
"transcript": "XM_047441380.1",
"protein_id": "XP_047297336.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 253,
"cds_start": 362,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441380.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.362C>G",
"hgvs_p": "p.Pro121Arg",
"transcript": "XM_047441381.1",
"protein_id": "XP_047297337.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 206,
"cds_start": 362,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441381.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.158C>G",
"hgvs_p": "p.Pro53Arg",
"transcript": "XM_047441382.1",
"protein_id": "XP_047297338.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 204,
"cds_start": 158,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441382.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.408C>G",
"hgvs_p": "p.Ala136Ala",
"transcript": "ENST00000405135.5",
"protein_id": "ENSP00000384012.1",
"transcript_support_level": 5,
"aa_start": 136,
"aa_end": null,
"aa_length": 281,
"cds_start": 408,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405135.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIMAP1B",
"gene_hgnc_id": 34388,
"hgvs_c": "c.291C>G",
"hgvs_p": "p.Ala97Ala",
"transcript": "NM_001382807.1",
"protein_id": "NP_001369736.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 242,
"cds_start": 291,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382807.1"
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{
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"biotype": "retained_intron",
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{
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"protein_coding": false,
"strand": false,
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],
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"exon_count": 3,
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{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 2,
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"gene_symbol": "ENSG00000296451",
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"biotype": "pseudogene",
"feature": "ENST00000739695.1"
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],
"gene_symbol": "CIMAP1B",
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"dbsnp": "rs370527047",
"frequency_reference_population": 0.0000027403266,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
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"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8435678482055664,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.37,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4589,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.069,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001382808.1",
"gene_symbol": "CIMAP1B",
"hgnc_id": 34388,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.362C>G",
"hgvs_p": "p.Pro121Arg"
},
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000739695.1",
"gene_symbol": "ENSG00000296451",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.176G>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}