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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: 6-168062944-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=168062944&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FRMD1",
"hgnc_id": 21240,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Arg274Cys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_024919.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 118726,
"alphamissense_prediction": null,
"alphamissense_score": 0.0685,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.003298640251159668,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5770,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1650,
"cds_start": 820,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_024919.6",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Arg274Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000283309.11",
"protein_coding": true,
"protein_id": "NP_079195.3",
"strand": false,
"transcript": "NM_024919.6",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5770,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1650,
"cds_start": 820,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000283309.11",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Arg274Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024919.6",
"protein_coding": true,
"protein_id": "ENSP00000283309.6",
"strand": false,
"transcript": "ENST00000283309.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2650,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000432403.5",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "n.438C>T",
"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": "ENST00000432403.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6142,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1845,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000646385.1",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Arg316Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494166.1",
"strand": false,
"transcript": "ENST00000646385.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 545,
"aa_ref": "R",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5667,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1638,
"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000644440.1",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.739C>T",
"hgvs_p": "p.Arg247Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496464.1",
"strand": false,
"transcript": "ENST00000644440.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5494,
"cdna_start": 593,
"cds_end": null,
"cds_length": 1455,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001394681.1",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381610.1",
"strand": false,
"transcript": "NM_001394681.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1600,
"cdna_start": 593,
"cds_end": null,
"cds_length": 1455,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000336070.11",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495639.1",
"strand": false,
"transcript": "ENST00000336070.11",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 481,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5465,
"cdna_start": 704,
"cds_end": null,
"cds_length": 1446,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001122841.3",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116313.1",
"strand": false,
"transcript": "NM_001122841.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 481,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2857,
"cdna_start": 735,
"cds_end": null,
"cds_length": 1446,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000440994.6",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414115.2",
"strand": false,
"transcript": "ENST00000440994.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6225,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1845,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011536137.2",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Arg316Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534439.1",
"strand": false,
"transcript": "XM_011536137.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 591,
"aa_ref": "R",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6155,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 1776,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017011317.2",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.946C>T",
"hgvs_p": "p.Arg316Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866806.1",
"strand": false,
"transcript": "XM_017011317.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 552,
"aa_ref": "R",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5737,
"cdna_start": 836,
"cds_end": null,
"cds_length": 1659,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011536138.2",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.760C>T",
"hgvs_p": "p.Arg254Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534440.1",
"strand": false,
"transcript": "XM_011536138.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 525,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5721,
"cdna_start": 820,
"cds_end": null,
"cds_length": 1578,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011536140.2",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.679C>T",
"hgvs_p": "p.Arg227Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534442.1",
"strand": false,
"transcript": "XM_011536140.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 506,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5625,
"cdna_start": 724,
"cds_end": null,
"cds_length": 1521,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011536141.2",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.622C>T",
"hgvs_p": "p.Arg208Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534443.1",
"strand": false,
"transcript": "XM_011536141.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 506,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5667,
"cdna_start": 766,
"cds_end": null,
"cds_length": 1521,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011536142.3",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.622C>T",
"hgvs_p": "p.Arg208Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534444.1",
"strand": false,
"transcript": "XM_011536142.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 506,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5646,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1521,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011536143.2",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.622C>T",
"hgvs_p": "p.Arg208Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534445.1",
"strand": false,
"transcript": "XM_011536143.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 504,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5605,
"cdna_start": 704,
"cds_end": null,
"cds_length": 1515,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011536145.2",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.616C>T",
"hgvs_p": "p.Arg206Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534447.1",
"strand": false,
"transcript": "XM_011536145.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 343,
"aa_ref": "R",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6455,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 1032,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017011318.2",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "c.133C>T",
"hgvs_p": "p.Arg45Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866807.1",
"strand": false,
"transcript": "XM_017011318.2",
"transcript_support_level": null
},
{
"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": 4677,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000358587.5",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "n.2485C>T",
"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": "ENST00000358587.5",
"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": 3821,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000468647.5",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "n.*868C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000427668.1",
"strand": false,
"transcript": "ENST00000468647.5",
"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": 2108,
"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": "ENST00000509157.5",
"gene_hgnc_id": 21240,
"gene_symbol": "FRMD1",
"hgvs_c": "n.*455C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423552.1",
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