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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: 11-61956964-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61956964&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BEST1",
"hgnc_id": 12703,
"hgvs_c": "c.602T>G",
"hgvs_p": "p.Ile201Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001440571.1",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LOC107984334",
"hgnc_id": null,
"hgvs_c": "n.1730A>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "XR_001748245.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9717,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Retinal dystrophy",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.974663496017456,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 585,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1758,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004183.4",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.602T>G",
"hgvs_p": "p.Ile201Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378043.9",
"protein_coding": true,
"protein_id": "NP_004174.1",
"strand": true,
"transcript": "NM_004183.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 585,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1758,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000378043.9",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.602T>G",
"hgvs_p": "p.Ile201Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004183.4",
"protein_coding": true,
"protein_id": "ENSP00000367282.4",
"strand": true,
"transcript": "ENST00000378043.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 604,
"aa_ref": "I",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4267,
"cdna_start": 508,
"cds_end": null,
"cds_length": 1815,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000449131.6",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.422T>G",
"hgvs_p": "p.Ile141Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399709.2",
"strand": true,
"transcript": "ENST00000449131.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 664,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1995,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001440571.1",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.602T>G",
"hgvs_p": "p.Ile201Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427500.1",
"strand": true,
"transcript": "NM_001440571.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 637,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3339,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1914,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001440572.1",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.602T>G",
"hgvs_p": "p.Ile201Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427501.1",
"strand": true,
"transcript": "NM_001440572.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 613,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3267,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1842,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001440573.1",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.602T>G",
"hgvs_p": "p.Ile201Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427502.1",
"strand": true,
"transcript": "NM_001440573.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 604,
"aa_ref": "I",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3232,
"cdna_start": 527,
"cds_end": null,
"cds_length": 1815,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001139443.3",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.422T>G",
"hgvs_p": "p.Ile141Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001132915.1",
"strand": true,
"transcript": "NM_001139443.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 577,
"aa_ref": "I",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3151,
"cdna_start": 527,
"cds_end": null,
"cds_length": 1734,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001440574.1",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.422T>G",
"hgvs_p": "p.Ile141Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427503.1",
"strand": true,
"transcript": "NM_001440574.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 558,
"aa_ref": "I",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3213,
"cdna_start": 508,
"cds_end": null,
"cds_length": 1677,
"cds_start": 284,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001363591.3",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.284T>G",
"hgvs_p": "p.Ile95Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350520.1",
"strand": true,
"transcript": "NM_001363591.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 553,
"aa_ref": "I",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3079,
"cdna_start": 527,
"cds_end": null,
"cds_length": 1662,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001440575.1",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.422T>G",
"hgvs_p": "p.Ile141Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427504.1",
"strand": true,
"transcript": "NM_001440575.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 526,
"aa_ref": "I",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 527,
"cds_end": null,
"cds_length": 1581,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001440576.1",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.422T>G",
"hgvs_p": "p.Ile141Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427505.1",
"strand": true,
"transcript": "NM_001440576.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 525,
"aa_ref": "I",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2022,
"cdna_start": 527,
"cds_end": null,
"cds_length": 1578,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001300787.2",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.422T>G",
"hgvs_p": "p.Ile141Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287716.1",
"strand": true,
"transcript": "NM_001300787.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 498,
"aa_ref": "I",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1941,
"cdna_start": 527,
"cds_end": null,
"cds_length": 1497,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001300786.2",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.422T>G",
"hgvs_p": "p.Ile141Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287715.1",
"strand": true,
"transcript": "NM_001300786.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 435,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1308,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001363592.2",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.602T>G",
"hgvs_p": "p.Ile201Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350521.1",
"strand": true,
"transcript": "NM_001363592.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 329,
"aa_ref": "I",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1263,
"cdna_start": 445,
"cds_end": null,
"cds_length": 990,
"cds_start": 284,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000526988.1",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.284T>G",
"hgvs_p": "p.Ile95Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433195.1",
"strand": true,
"transcript": "ENST00000526988.1",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 270,
"aa_ref": "I",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4618,
"cdna_start": 1245,
"cds_end": null,
"cds_length": 813,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005274221.5",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.602T>G",
"hgvs_p": "p.Ile201Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274278.1",
"strand": true,
"transcript": "XM_005274221.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3416,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001363593.3",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.-574T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350522.1",
"strand": true,
"transcript": "NM_001363593.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 55,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": null,
"cds_end": null,
"cds_length": 168,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000534553.5",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "c.163+1013T>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431189.1",
"strand": true,
"transcript": "ENST00000534553.5",
"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": 5772,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000524877.5",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "n.1034T>G",
"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": "ENST00000524877.5",
"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": 2404,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000524926.5",
"gene_hgnc_id": 12703,
"gene_symbol": "BEST1",
"hgvs_c": "n.602T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432681.1",
"strand": true,
"transcript": "ENST00000524926.5",
"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": 1421,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
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}