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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: 3-49685030-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49685030&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MST1",
"hgnc_id": 7380,
"hgvs_c": "c.1640G>C",
"hgvs_p": "p.Arg547Pro",
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001393581.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ENSG00000259970",
"hgnc_id": null,
"hgvs_c": "n.-47G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000563780.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 11,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.3688,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"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": "Pathogenic",
"computational_score_selected": 0.8356485366821289,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 725,
"aa_ref": "R",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3042,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1604,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_020998.4",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "c.1604G>C",
"hgvs_p": "p.Arg535Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000449682.3",
"protein_coding": true,
"protein_id": "NP_066278.3",
"strand": false,
"transcript": "NM_020998.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 725,
"aa_ref": "R",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3042,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1604,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000449682.3",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "c.1604G>C",
"hgvs_p": "p.Arg535Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020998.4",
"protein_coding": true,
"protein_id": "ENSP00000414287.2",
"strand": false,
"transcript": "ENST00000449682.3",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 737,
"aa_ref": "R",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 2423,
"cds_end": null,
"cds_length": 2214,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001393581.1",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "c.1640G>C",
"hgvs_p": "p.Arg547Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380510.1",
"strand": false,
"transcript": "NM_001393581.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 706,
"aa_ref": "R",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2985,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1604,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001393582.1",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "c.1604G>C",
"hgvs_p": "p.Arg535Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380511.1",
"strand": false,
"transcript": "NM_001393582.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 695,
"aa_ref": "R",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2952,
"cdna_start": 2297,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1514,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001393583.1",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "c.1514G>C",
"hgvs_p": "p.Arg505Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380512.1",
"strand": false,
"transcript": "NM_001393583.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 680,
"aa_ref": "R",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2907,
"cdna_start": 2252,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1469,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001393584.1",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "c.1469G>C",
"hgvs_p": "p.Arg490Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380513.1",
"strand": false,
"transcript": "NM_001393584.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 2087,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001393585.1",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "c.1304G>C",
"hgvs_p": "p.Arg435Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380514.1",
"strand": false,
"transcript": "NM_001393585.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 718,
"aa_ref": "R",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3021,
"cdna_start": 2423,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017006460.3",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "c.1640G>C",
"hgvs_p": "p.Arg547Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861949.1",
"strand": false,
"transcript": "XM_017006460.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1604,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047448158.1",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "c.1604G>C",
"hgvs_p": "p.Arg535Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304114.1",
"strand": false,
"transcript": "XM_047448158.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 610,
"aa_ref": "R",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2795,
"cdna_start": 2252,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1469,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047448159.1",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "c.1469G>C",
"hgvs_p": "p.Arg490Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304115.1",
"strand": false,
"transcript": "XM_047448159.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 540,
"aa_ref": "R",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1604,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047448160.1",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "c.1604G>C",
"hgvs_p": "p.Arg535Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304116.1",
"strand": false,
"transcript": "XM_047448160.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 194,
"aa_ref": "P",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 667,
"cdna_start": 61,
"cds_end": null,
"cds_length": 585,
"cds_start": 60,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000448220.5",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "c.60G>C",
"hgvs_p": "p.Pro20Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394756.1",
"strand": false,
"transcript": "ENST00000448220.5",
"transcript_support_level": 5
},
{
"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": 2285,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000479115.5",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "n.1532G>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": "ENST00000479115.5",
"transcript_support_level": 5
},
{
"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": 878,
"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": "ENST00000484144.1",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "n.269G>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": "ENST00000484144.1",
"transcript_support_level": 2
},
{
"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": 1518,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000484269.5",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "n.1353G>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": "ENST00000484269.5",
"transcript_support_level": 5
},
{
"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": 4152,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000488350.6",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "n.3526G>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": "ENST00000488350.6",
"transcript_support_level": 5
},
{
"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": 2006,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000492329.5",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "n.1380G>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": "ENST00000492329.5",
"transcript_support_level": 5
},
{
"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": 923,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000493836.5",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "n.370G>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": "ENST00000493836.5",
"transcript_support_level": 2
},
{
"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": 1917,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000497359.1",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "n.1748G>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": "ENST00000497359.1",
"transcript_support_level": 5
},
{
"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": 854,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000498021.1",
"gene_hgnc_id": 7380,
"gene_symbol": "MST1",
"hgvs_c": "n.668G>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": "ENST00000498021.1",
"transcript_support_level": 2
},
{
"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": 565,
"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": "ENST00000481930.6",
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