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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: 16-67877766-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67877766&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EDC4",
"hgnc_id": 17157,
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001427345.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.924,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5799977779388428,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4767,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 4206,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_014329.5",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358933.10",
"protein_coding": true,
"protein_id": "NP_055144.3",
"strand": true,
"transcript": "NM_014329.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4767,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 4206,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000358933.10",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014329.5",
"protein_coding": true,
"protein_id": "ENSP00000351811.5",
"strand": true,
"transcript": "ENST00000358933.10",
"transcript_support_level": 1
},
{
"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": 3934,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000573992.5",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "n.194T>A",
"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": "ENST00000573992.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4875,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 4314,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001427345.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001414274.1",
"strand": true,
"transcript": "NM_001427345.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4866,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 4314,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851723.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521782.1",
"strand": true,
"transcript": "ENST00000851723.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1413,
"aa_ref": "L",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4781,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 4242,
"cds_start": 851,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000936215.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.851T>A",
"hgvs_p": "p.Leu284His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606274.1",
"strand": true,
"transcript": "ENST00000936215.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1412,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4743,
"cdna_start": 975,
"cds_end": null,
"cds_length": 4239,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969098.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639157.1",
"strand": true,
"transcript": "ENST00000969098.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4769,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 4233,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000936216.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606275.1",
"strand": true,
"transcript": "ENST00000936216.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1407,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4770,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 4224,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851725.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521784.1",
"strand": true,
"transcript": "ENST00000851725.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1406,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4785,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 4221,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851722.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521781.1",
"strand": true,
"transcript": "ENST00000851722.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1405,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4782,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 4218,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851721.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521780.1",
"strand": true,
"transcript": "ENST00000851721.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1399,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4766,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 4200,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851720.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521779.1",
"strand": true,
"transcript": "ENST00000851720.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1395,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4739,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 4188,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969096.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639155.1",
"strand": true,
"transcript": "ENST00000969096.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1386,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4708,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 4161,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000936214.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606273.1",
"strand": true,
"transcript": "ENST00000936214.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1376,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4676,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 4131,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851726.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521785.1",
"strand": true,
"transcript": "ENST00000851726.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4674,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 4125,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851724.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521783.1",
"strand": true,
"transcript": "ENST00000851724.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1358,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4606,
"cdna_start": 993,
"cds_end": null,
"cds_length": 4077,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851727.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521786.1",
"strand": true,
"transcript": "ENST00000851727.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4601,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 4035,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851719.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521778.1",
"strand": true,
"transcript": "ENST00000851719.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "L",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4558,
"cdna_start": 816,
"cds_end": null,
"cds_length": 4035,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000851728.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.644T>A",
"hgvs_p": "p.Leu215His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521787.1",
"strand": true,
"transcript": "ENST00000851728.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1310,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4501,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 3933,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851718.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
"hgvs_p": "p.Leu272His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521777.1",
"strand": true,
"transcript": "ENST00000851718.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1296,
"aa_ref": "L",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4423,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 3891,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000969097.1",
"gene_hgnc_id": 17157,
"gene_symbol": "EDC4",
"hgvs_c": "c.815T>A",
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]
}