← 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: 9-84001609-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=84001609&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RMI1",
"hgnc_id": 25764,
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_024945.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.0893,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25793179869651794,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001358291.2",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000445877.6",
"protein_coding": true,
"protein_id": "NP_001345220.1",
"strand": true,
"transcript": "NM_001358291.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000445877.6",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001358291.2",
"protein_coding": true,
"protein_id": "ENSP00000402433.2",
"strand": true,
"transcript": "ENST00000445877.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3489,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001358292.2",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001345221.1",
"strand": true,
"transcript": "NM_001358292.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3376,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001358293.2",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001345222.1",
"strand": true,
"transcript": "NM_001358293.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3398,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001358294.2",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001345223.1",
"strand": true,
"transcript": "NM_001358294.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3413,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_024945.3",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079221.2",
"strand": true,
"transcript": "NM_024945.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000325875.7",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000317039.3",
"strand": true,
"transcript": "ENST00000325875.7",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3402,
"cdna_start": 937,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000891301.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561360.1",
"strand": true,
"transcript": "ENST00000891301.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3470,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891302.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561361.1",
"strand": true,
"transcript": "ENST00000891302.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3273,
"cdna_start": 808,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000891303.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561362.1",
"strand": true,
"transcript": "ENST00000891303.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891304.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561363.1",
"strand": true,
"transcript": "ENST00000891304.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3535,
"cdna_start": 2031,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000891305.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561364.1",
"strand": true,
"transcript": "ENST00000891305.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3477,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915823.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585882.1",
"strand": true,
"transcript": "ENST00000915823.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3568,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915824.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585883.1",
"strand": true,
"transcript": "ENST00000915824.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3470,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915825.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585884.1",
"strand": true,
"transcript": "ENST00000915825.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3353,
"cdna_start": 888,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915826.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585885.1",
"strand": true,
"transcript": "ENST00000915826.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3340,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915827.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585886.1",
"strand": true,
"transcript": "ENST00000915827.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000915828.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585887.1",
"strand": true,
"transcript": "ENST00000915828.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3413,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915829.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585888.1",
"strand": true,
"transcript": "ENST00000915829.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4454,
"cdna_start": 1989,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915830.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585889.1",
"strand": true,
"transcript": "ENST00000915830.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915831.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585890.1",
"strand": true,
"transcript": "ENST00000915831.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3380,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915832.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585891.1",
"strand": true,
"transcript": "ENST00000915832.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6015,
"cdna_start": 3550,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915833.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585892.1",
"strand": true,
"transcript": "ENST00000915833.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000957676.1",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627735.1",
"strand": true,
"transcript": "ENST00000957676.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 625,
"aa_ref": "A",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9905,
"cdna_start": 7440,
"cds_end": null,
"cds_length": 1878,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017015140.2",
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Ala208Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870629.1",
"strand": true,
"transcript": "XM_017015140.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs374998082",
"effect": "missense_variant",
"frequency_reference_population": 0.000004788925,
"gene_hgnc_id": 25764,
"gene_symbol": "RMI1",
"gnomad_exomes_ac": 7,
"gnomad_exomes_af": 0.00000478892,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.83,
"pos": 84001609,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.146,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_024945.3"
}
]
}