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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: 5-1325759-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=1325759&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLPTM1L",
"hgnc_id": 24308,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Glu380Lys",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_030782.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_score": -9,
"allele_count_reference_population": 1065,
"alphamissense_prediction": null,
"alphamissense_score": 0.0702,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "5",
"clinvar_classification": "Benign",
"clinvar_disease": "CLPTM1L-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0046656131744384766,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 538,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_030782.5",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Glu380Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000320895.10",
"protein_coding": true,
"protein_id": "NP_110409.2",
"strand": false,
"transcript": "NM_030782.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 538,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000320895.10",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Glu380Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030782.5",
"protein_coding": true,
"protein_id": "ENSP00000313854.5",
"strand": false,
"transcript": "ENST00000320895.10",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 369,
"aa_ref": "E",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1740,
"cdna_start": 645,
"cds_end": null,
"cds_length": 1110,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000507807.3",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Glu211Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423321.1",
"strand": false,
"transcript": "ENST00000507807.3",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 606,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2558,
"cdna_start": 1367,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000966757.1",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Glu380Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636816.1",
"strand": false,
"transcript": "ENST00000966757.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 537,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2474,
"cdna_start": 1370,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879373.1",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549432.1",
"strand": false,
"transcript": "ENST00000879373.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 537,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000924966.1",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Glu380Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595025.1",
"strand": false,
"transcript": "ENST00000924966.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 536,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000966760.1",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Glu380Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636819.1",
"strand": false,
"transcript": "ENST00000966760.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 534,
"aa_ref": "E",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2343,
"cdna_start": 1355,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000924967.1",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Glu376Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595026.1",
"strand": false,
"transcript": "ENST00000924967.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 523,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2407,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000966756.1",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Glu380Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636815.1",
"strand": false,
"transcript": "ENST00000966756.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 522,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 1363,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000924969.1",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595028.1",
"strand": false,
"transcript": "ENST00000924969.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 521,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 1367,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000924968.1",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Glu380Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595027.1",
"strand": false,
"transcript": "ENST00000924968.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "E",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1428,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000966758.1",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Glu317Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636817.1",
"strand": false,
"transcript": "ENST00000966758.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 474,
"aa_ref": "E",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 1171,
"cds_end": null,
"cds_length": 1425,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000924970.1",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Glu316Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595029.1",
"strand": false,
"transcript": "ENST00000924970.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 369,
"aa_ref": "E",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2032,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1110,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000630539.1",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Glu211Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485923.1",
"strand": false,
"transcript": "ENST00000630539.1",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 537,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2489,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011514144.3",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Glu379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512446.1",
"strand": false,
"transcript": "XM_011514144.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 360,
"aa_ref": "E",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1083,
"cds_start": 604,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_024446222.2",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024301990.1",
"strand": false,
"transcript": "XM_024446222.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 516,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2220,
"cdna_start": null,
"cds_end": null,
"cds_length": 1551,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966759.1",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "c.1081-946G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636818.1",
"strand": false,
"transcript": "ENST00000966759.1",
"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": 3540,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000503042.5",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "n.1623G>A",
"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": "ENST00000503042.5",
"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": 627,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000503151.5",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "n.407G>A",
"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": "ENST00000503151.5",
"transcript_support_level": 3
},
{
"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": 742,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000503534.5",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
"hgvs_c": "n.69G>A",
"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": "ENST00000503534.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 792,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000506641.5",
"gene_hgnc_id": 24308,
"gene_symbol": "CLPTM1L",
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}