← 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: 11-208916-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=208916&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RIC8A",
"hgnc_id": 29550,
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_021932.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.1614,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16149422526359558,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 531,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3506,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1596,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001286134.2",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000526104.6",
"protein_coding": true,
"protein_id": "NP_001273063.1",
"strand": true,
"transcript": "NM_001286134.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 531,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3506,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1596,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000526104.6",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001286134.2",
"protein_coding": true,
"protein_id": "ENSP00000432008.1",
"strand": true,
"transcript": "ENST00000526104.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 537,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 387,
"cds_end": null,
"cds_length": 1614,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000325207.9",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000325941.5",
"strand": true,
"transcript": "ENST00000325207.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 550,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": 112,
"cds_end": null,
"cds_length": 1653,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000853239.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523298.1",
"strand": true,
"transcript": "ENST00000853239.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 537,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1614,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_021932.6",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_068751.4",
"strand": true,
"transcript": "NM_021932.6",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 535,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3518,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1608,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001386941.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373870.1",
"strand": true,
"transcript": "NM_001386941.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 530,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2413,
"cdna_start": 124,
"cds_end": null,
"cds_length": 1593,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000853238.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523297.1",
"strand": true,
"transcript": "ENST00000853238.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 81,
"cds_end": null,
"cds_length": 1590,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000853241.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523300.1",
"strand": true,
"transcript": "ENST00000853241.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 528,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 131,
"cds_end": null,
"cds_length": 1587,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000853237.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523296.1",
"strand": true,
"transcript": "ENST00000853237.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 528,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3348,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 1587,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000941738.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611797.1",
"strand": true,
"transcript": "ENST00000941738.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 519,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3679,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 1560,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000941737.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611796.1",
"strand": true,
"transcript": "ENST00000941737.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 515,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 136,
"cds_end": null,
"cds_length": 1548,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000853236.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523295.1",
"strand": true,
"transcript": "ENST00000853236.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 511,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1820,
"cdna_start": 112,
"cds_end": null,
"cds_length": 1536,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000853242.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523301.1",
"strand": true,
"transcript": "ENST00000853242.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 499,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3536,
"cdna_start": 1340,
"cds_end": null,
"cds_length": 1500,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000853235.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523294.1",
"strand": true,
"transcript": "ENST00000853235.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 491,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 77,
"cds_end": null,
"cds_length": 1476,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000853240.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523299.1",
"strand": true,
"transcript": "ENST00000853240.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 182,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 563,
"cdna_start": 76,
"cds_end": null,
"cds_length": 549,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000530889.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433968.1",
"strand": true,
"transcript": "ENST00000530889.1",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 147,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 500,
"cdna_start": 117,
"cds_end": null,
"cds_length": 445,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000528357.5",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436610.1",
"strand": true,
"transcript": "ENST00000528357.5",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 52,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 159,
"cdna_start": 62,
"cds_end": null,
"cds_length": 159,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000626818.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487470.1",
"strand": true,
"transcript": "ENST00000626818.1",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 541,
"aa_ref": "A",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3536,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1626,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047427393.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283349.1",
"strand": true,
"transcript": "XM_047427393.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3602,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001386942.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.-365C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373871.1",
"strand": true,
"transcript": "NM_001386942.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 965,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000526982.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "n.62C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435167.1",
"strand": true,
"transcript": "ENST00000526982.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 620,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000532373.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "n.80C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000532373.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 525,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2565,
"cdna_start": null,
"cds_end": null,
"cds_length": 1578,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000527696.5",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.-377C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434833.1",
"strand": true,
"transcript": "ENST00000527696.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 43,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 571,
"cdna_start": null,
"cds_end": null,
"cds_length": 134,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000527468.1",
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"hgvs_c": "c.-601C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433009.1",
"strand": true,
"transcript": "ENST00000527468.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs375013736",
"effect": "missense_variant",
"frequency_reference_population": 0.000003725565,
"gene_hgnc_id": 29550,
"gene_symbol": "RIC8A",
"gnomad_exomes_ac": 5,
"gnomad_exomes_af": 0.00000342791,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000658423,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.081,
"pos": 208916,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.128,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_021932.6"
}
]
}