← Back to variant description
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: 11-65540026-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65540026&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "LTBP3",
"hgnc_id": 6716,
"hgvs_c": "c.3372C>T",
"hgvs_p": "p.Pro1124Pro",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001130144.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_score": -13,
"allele_count_reference_population": 19,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Brachyolmia-amelogenesis imperfecta syndrome,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5199999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "P",
"aa_start": 1124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4833,
"cdna_start": 3772,
"cds_end": null,
"cds_length": 3912,
"cds_start": 3372,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001130144.3",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3372C>T",
"hgvs_p": "p.Pro1124Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000301873.11",
"protein_coding": true,
"protein_id": "NP_001123616.1",
"strand": false,
"transcript": "NM_001130144.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "P",
"aa_start": 1124,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4833,
"cdna_start": 3772,
"cds_end": null,
"cds_length": 3912,
"cds_start": 3372,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000301873.11",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3372C>T",
"hgvs_p": "p.Pro1124Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130144.3",
"protein_coding": true,
"protein_id": "ENSP00000301873.5",
"strand": false,
"transcript": "ENST00000301873.11",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1256,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4046,
"cdna_start": null,
"cds_end": null,
"cds_length": 3771,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000322147.8",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3245-145C>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326647.4",
"strand": false,
"transcript": "ENST00000322147.8",
"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": 3935,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528516.5",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.*2890-145C>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432350.1",
"strand": false,
"transcript": "ENST00000528516.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1312,
"aa_ref": "P",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4540,
"cdna_start": 3738,
"cds_end": null,
"cds_length": 3939,
"cds_start": 3399,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000971648.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3399C>T",
"hgvs_p": "p.Pro1133Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641707.1",
"strand": false,
"transcript": "ENST00000971648.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1302,
"aa_ref": "P",
"aa_start": 1123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4580,
"cdna_start": 3772,
"cds_end": null,
"cds_length": 3909,
"cds_start": 3369,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000971647.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3369C>T",
"hgvs_p": "p.Pro1123Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641706.1",
"strand": false,
"transcript": "ENST00000971647.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "P",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4324,
"cdna_start": 3523,
"cds_end": null,
"cds_length": 3822,
"cds_start": 3282,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000971650.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3282C>T",
"hgvs_p": "p.Pro1094Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641709.1",
"strand": false,
"transcript": "ENST00000971650.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "P",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4710,
"cdna_start": 3649,
"cds_end": null,
"cds_length": 3789,
"cds_start": 3249,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000689505.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3249C>T",
"hgvs_p": "p.Pro1083Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510401.1",
"strand": false,
"transcript": "ENST00000689505.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "P",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4649,
"cdna_start": 3588,
"cds_end": null,
"cds_length": 3789,
"cds_start": 3249,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000971646.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3249C>T",
"hgvs_p": "p.Pro1083Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641705.1",
"strand": false,
"transcript": "ENST00000971646.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "P",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4383,
"cdna_start": 3582,
"cds_end": null,
"cds_length": 3789,
"cds_start": 3249,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000971649.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3249C>T",
"hgvs_p": "p.Pro1083Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641708.1",
"strand": false,
"transcript": "ENST00000971649.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1214,
"aa_ref": "P",
"aa_start": 1035,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4512,
"cdna_start": 3451,
"cds_end": null,
"cds_length": 3645,
"cds_start": 3105,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000530866.6",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3105C>T",
"hgvs_p": "p.Pro1035Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435276.2",
"strand": false,
"transcript": "ENST00000530866.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1256,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4561,
"cdna_start": null,
"cds_end": null,
"cds_length": 3771,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_021070.4",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.3245-145C>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_066548.2",
"strand": false,
"transcript": "NM_021070.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1139,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4557,
"cdna_start": null,
"cds_end": null,
"cds_length": 3420,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001164266.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.2894-145C>T",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157738.1",
"strand": false,
"transcript": "NM_001164266.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 971,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": null,
"cds_end": null,
"cds_length": 2916,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000526927.6",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.2390-145C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431219.2",
"strand": false,
"transcript": "ENST00000526927.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 259,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 863,
"cdna_start": null,
"cds_end": null,
"cds_length": 780,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000532661.6",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "c.254-145C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436341.2",
"strand": false,
"transcript": "ENST00000532661.6",
"transcript_support_level": 3
},
{
"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": 4498,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000526825.6",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.*2635C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435146.2",
"strand": false,
"transcript": "ENST00000526825.6",
"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": 2464,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000529582.6",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.1414C>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": "ENST00000529582.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"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": "ENST00000530785.5",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.1660C>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": "ENST00000530785.5",
"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": 3327,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000532932.5",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.2526C>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": "ENST00000532932.5",
"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": 4498,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000526825.6",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.*2635C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435146.2",
"strand": false,
"transcript": "ENST00000526825.6",
"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": 1997,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000529189.5",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.1210-145C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000529189.5",
"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": 575,
"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": "ENST00000529371.5",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.209-145C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000529371.5",
"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": 3620,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000685178.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.2917-145C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000685178.1",
"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": 2782,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000688764.1",
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"hgvs_c": "n.1746-145C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000688764.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs891777322",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000125783,
"gene_hgnc_id": 6716,
"gene_symbol": "LTBP3",
"gnomad_exomes_ac": 15,
"gnomad_exomes_af": 0.0000110428,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.000026284,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "Brachyolmia-amelogenesis imperfecta syndrome|Inborn genetic diseases",
"phylop100way_prediction": "Benign",
"phylop100way_score": -3.617,
"pos": 65540026,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001130144.3"
}
]
}