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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: 9-84001020-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=84001020&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 84001020,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_024945.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "NM_001358291.2",
"protein_id": "NP_001345220.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": "ENST00000445877.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001358291.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000445877.6",
"protein_id": "ENSP00000402433.2",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": "NM_001358291.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445877.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "NM_001358292.2",
"protein_id": "NP_001345221.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001358292.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "NM_001358293.2",
"protein_id": "NP_001345222.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3376,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001358293.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "NM_001358294.2",
"protein_id": "NP_001345223.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001358294.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "NM_024945.3",
"protein_id": "NP_079221.2",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 3413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024945.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000325875.7",
"protein_id": "ENSP00000317039.3",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325875.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000891301.1",
"protein_id": "ENSP00000561360.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891301.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000891302.1",
"protein_id": "ENSP00000561361.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 3470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891302.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000891303.1",
"protein_id": "ENSP00000561362.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891303.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000891304.1",
"protein_id": "ENSP00000561363.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891304.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000891305.1",
"protein_id": "ENSP00000561364.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891305.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000915823.1",
"protein_id": "ENSP00000585882.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 3477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915823.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000915824.1",
"protein_id": "ENSP00000585883.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 3568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915824.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000915825.1",
"protein_id": "ENSP00000585884.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 3470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915825.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000915826.1",
"protein_id": "ENSP00000585885.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 3353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915826.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000915827.1",
"protein_id": "ENSP00000585886.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915827.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000915828.1",
"protein_id": "ENSP00000585887.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915828.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000915829.1",
"protein_id": "ENSP00000585888.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 3413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915829.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000915830.1",
"protein_id": "ENSP00000585889.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915830.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000915831.1",
"protein_id": "ENSP00000585890.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915831.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMI1",
"gene_hgnc_id": 25764,
"hgvs_c": "c.34A>G",
"hgvs_p": "p.Thr12Ala",
"transcript": "ENST00000915832.1",
"protein_id": "ENSP00000585891.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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],
"gene_symbol": "RMI1",
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"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23211297392845154,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.622,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "RMI1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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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
}