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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: X-72301950-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=72301950&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CITED1",
"hgnc_id": 1986,
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Gly145Arg",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001144885.2",
"verdict": "Benign"
},
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000285547",
"hgnc_id": null,
"hgvs_c": "c.1531G>C",
"hgvs_p": "p.Gly511Arg",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -8,
"transcript": "ENST00000648922.1",
"verdict": "Benign"
},
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PIN4",
"hgnc_id": 8992,
"hgvs_c": "n.*195+298C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -8,
"transcript": "ENST00000439980.7",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 2574,
"alphamissense_prediction": null,
"alphamissense_score": 0.1132,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "X",
"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": 0.006769150495529175,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 814,
"cdna_start": 510,
"cds_end": null,
"cds_length": 582,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001144887.2",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Gly119Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651998.1",
"protein_coding": true,
"protein_id": "NP_001138359.1",
"strand": false,
"transcript": "NM_001144887.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 814,
"cdna_start": 510,
"cds_end": null,
"cds_length": 582,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000651998.1",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Gly119Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001144887.2",
"protein_coding": true,
"protein_id": "ENSP00000499148.1",
"strand": false,
"transcript": "ENST00000651998.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 555,
"aa_ref": "G",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": 1613,
"cds_end": null,
"cds_length": 1670,
"cds_start": 1531,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000648922.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285547",
"hgvs_c": "c.1531G>C",
"hgvs_p": "p.Gly511Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497072.1",
"strand": false,
"transcript": "ENST00000648922.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1231,
"cdna_start": 931,
"cds_end": null,
"cds_length": 582,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000246139.9",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Gly119Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000246139.5",
"strand": false,
"transcript": "ENST00000246139.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 886,
"cdna_start": 583,
"cds_end": null,
"cds_length": 582,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000373619.7",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Gly119Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362721.3",
"strand": false,
"transcript": "ENST00000373619.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 219,
"aa_ref": "G",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 935,
"cdna_start": 631,
"cds_end": null,
"cds_length": 660,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001144885.2",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Gly145Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138357.1",
"strand": false,
"transcript": "NM_001144885.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 219,
"aa_ref": "G",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 941,
"cdna_start": 631,
"cds_end": null,
"cds_length": 660,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000431381.5",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Gly145Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388548.1",
"strand": false,
"transcript": "ENST00000431381.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 219,
"aa_ref": "G",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 998,
"cdna_start": 686,
"cds_end": null,
"cds_length": 660,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000453707.6",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Gly145Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401764.2",
"strand": false,
"transcript": "ENST00000453707.6",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 857,
"cdna_start": 553,
"cds_end": null,
"cds_length": 582,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001144886.2",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Gly119Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138358.1",
"strand": false,
"transcript": "NM_001144886.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1118,
"cdna_start": 814,
"cds_end": null,
"cds_length": 582,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_004143.4",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Gly119Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004134.2",
"strand": false,
"transcript": "NM_004143.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 820,
"cdna_start": 510,
"cds_end": null,
"cds_length": 582,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000445983.5",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Gly119Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403274.1",
"strand": false,
"transcript": "ENST00000445983.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 848,
"cdna_start": 544,
"cds_end": null,
"cds_length": 582,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000940527.1",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Gly119Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610586.1",
"strand": false,
"transcript": "ENST00000940527.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 802,
"cdna_start": 498,
"cds_end": null,
"cds_length": 582,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000940528.1",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Gly119Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610587.1",
"strand": false,
"transcript": "ENST00000940528.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 786,
"cdna_start": 482,
"cds_end": null,
"cds_length": 582,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000940529.1",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Gly119Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610588.1",
"strand": false,
"transcript": "ENST00000940529.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 787,
"cdna_start": 487,
"cds_end": null,
"cds_length": 582,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000940530.1",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Gly119Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610589.1",
"strand": false,
"transcript": "ENST00000940530.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1059,
"cdna_start": 757,
"cds_end": null,
"cds_length": 582,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000940531.1",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Gly119Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610590.1",
"strand": false,
"transcript": "ENST00000940531.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1176,
"cdna_start": 874,
"cds_end": null,
"cds_length": 582,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000940532.1",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Gly119Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610591.1",
"strand": false,
"transcript": "ENST00000940532.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 139,
"aa_ref": "G",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 560,
"cdna_start": 493,
"cds_end": null,
"cds_length": 422,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000417400.1",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Gly119Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414781.1",
"strand": false,
"transcript": "ENST00000417400.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 105,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 395,
"cdna_start": null,
"cds_end": null,
"cds_length": 318,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000429794.1",
"gene_hgnc_id": 1986,
"gene_symbol": "CITED1",
"hgvs_c": "c.166-75G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407496.1",
"strand": false,
"transcript": "ENST00000429794.1",
"transcript_support_level": 2
},
{
"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": 1892,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000647613.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285547",
"hgvs_c": "n.*1284G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497911.1",
"strand": false,
"transcript": "ENST00000647613.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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}