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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: 3-185477339-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=185477339&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": "MAP3K13",
"hgnc_id": 6852,
"hgvs_c": "c.2444C>G",
"hgvs_p": "p.Ser815Cys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_004721.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LOC101929018",
"hgnc_id": null,
"hgvs_c": "n.3753G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "XR_007096198.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TMEM41A",
"hgnc_id": 30544,
"hgvs_c": "n.274-192G>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000382227.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.19,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "3",
"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": 0.24564239382743835,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 966,
"aa_ref": "S",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9857,
"cdna_start": 2762,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2444,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_004721.5",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "c.2444C>G",
"hgvs_p": "p.Ser815Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265026.8",
"protein_coding": true,
"protein_id": "NP_004712.1",
"strand": true,
"transcript": "NM_004721.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 966,
"aa_ref": "S",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9857,
"cdna_start": 2762,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2444,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000265026.8",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "c.2444C>G",
"hgvs_p": "p.Ser815Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004721.5",
"protein_coding": true,
"protein_id": "ENSP00000265026.3",
"strand": true,
"transcript": "ENST00000265026.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 966,
"aa_ref": "S",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 2699,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2444,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000424227.5",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "c.2444C>G",
"hgvs_p": "p.Ser815Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399910.1",
"strand": true,
"transcript": "ENST00000424227.5",
"transcript_support_level": 1
},
{
"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": 2882,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000438053.5",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "n.*1585C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403561.1",
"strand": true,
"transcript": "ENST00000438053.5",
"transcript_support_level": 1
},
{
"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": 2882,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000438053.5",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "n.*1585C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403561.1",
"strand": true,
"transcript": "ENST00000438053.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 966,
"aa_ref": "S",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9810,
"cdna_start": 2715,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2444,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001242314.2",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "c.2444C>G",
"hgvs_p": "p.Ser815Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229243.1",
"strand": true,
"transcript": "NM_001242314.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 966,
"aa_ref": "S",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3756,
"cdna_start": 2920,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2444,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000901846.1",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "c.2444C>G",
"hgvs_p": "p.Ser815Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571905.1",
"strand": true,
"transcript": "ENST00000901846.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 966,
"aa_ref": "S",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3503,
"cdna_start": 2691,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2444,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000901848.1",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "c.2444C>G",
"hgvs_p": "p.Ser815Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571907.1",
"strand": true,
"transcript": "ENST00000901848.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 966,
"aa_ref": "S",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3479,
"cdna_start": 2629,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2444,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000901849.1",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "c.2444C>G",
"hgvs_p": "p.Ser815Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571908.1",
"strand": true,
"transcript": "ENST00000901849.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 935,
"aa_ref": "S",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2351,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000901847.1",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "c.2351C>G",
"hgvs_p": "p.Ser784Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571906.1",
"strand": true,
"transcript": "ENST00000901847.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 868,
"aa_ref": "S",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3191,
"cdna_start": 2380,
"cds_end": null,
"cds_length": 2607,
"cds_start": 2150,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000950641.1",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "c.2150C>G",
"hgvs_p": "p.Ser717Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620700.1",
"strand": true,
"transcript": "ENST00000950641.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 822,
"aa_ref": "S",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3025,
"cdna_start": 2213,
"cds_end": null,
"cds_length": 2469,
"cds_start": 2012,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000443863.5",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "c.2012C>G",
"hgvs_p": "p.Ser671Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409325.1",
"strand": true,
"transcript": "ENST00000443863.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 759,
"aa_ref": "S",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9074,
"cdna_start": 1979,
"cds_end": null,
"cds_length": 2280,
"cds_start": 1823,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001242317.2",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "c.1823C>G",
"hgvs_p": "p.Ser608Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229246.1",
"strand": true,
"transcript": "NM_001242317.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 759,
"aa_ref": "S",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 1987,
"cds_end": null,
"cds_length": 2280,
"cds_start": 1823,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000446828.5",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "c.1823C>G",
"hgvs_p": "p.Ser608Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411483.1",
"strand": true,
"transcript": "ENST00000446828.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 966,
"aa_ref": "S",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9692,
"cdna_start": 2597,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2444,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011513310.3",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "c.2444C>G",
"hgvs_p": "p.Ser815Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511612.1",
"strand": true,
"transcript": "XM_011513310.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 966,
"aa_ref": "S",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9818,
"cdna_start": 2723,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2444,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017007456.2",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "c.2444C>G",
"hgvs_p": "p.Ser815Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862945.1",
"strand": true,
"transcript": "XM_017007456.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 966,
"aa_ref": "S",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17493,
"cdna_start": 10398,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2444,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047449193.1",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "c.2444C>G",
"hgvs_p": "p.Ser815Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305149.1",
"strand": true,
"transcript": "XM_047449193.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 817,
"aa_ref": "S",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9132,
"cdna_start": 2037,
"cds_end": null,
"cds_length": 2454,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017007457.2",
"gene_hgnc_id": 6852,
"gene_symbol": "MAP3K13",
"hgvs_c": "c.1997C>G",
"hgvs_p": "p.Ser666Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862946.1",
"strand": true,
"transcript": "XM_017007457.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6621,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_007096198.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC101929018",
"hgvs_c": "n.3753G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007096198.1",
"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": 541,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382227.7",
"gene_hgnc_id": 30544,
"gene_symbol": "TMEM41A",
"hgvs_c": "n.274-192G>C",
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