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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: 16-28866155-CCC-AGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28866155&ref=CCC&alt=AGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SH2B1",
"hgnc_id": 30417,
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001145795.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 756,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4908,
"cdna_start": 2313,
"cds_end": null,
"cds_length": 2271,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387430.1",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000684370.1",
"protein_coding": true,
"protein_id": "NP_001374359.1",
"strand": true,
"transcript": "NM_001387430.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 756,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4908,
"cdna_start": 2313,
"cds_end": null,
"cds_length": 2271,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684370.1",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001387430.1",
"protein_coding": true,
"protein_id": "ENSP00000507475.1",
"strand": true,
"transcript": "ENST00000684370.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 756,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2935,
"cdna_start": 333,
"cds_end": null,
"cds_length": 2271,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000618521.4",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481709.1",
"strand": true,
"transcript": "ENST00000618521.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 683,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": 247,
"cds_end": null,
"cds_length": 2052,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359285.10",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352232.5",
"strand": true,
"transcript": "ENST00000359285.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 671,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6043,
"cdna_start": 3352,
"cds_end": null,
"cds_length": 2016,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000337120.9",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000337163.5",
"strand": true,
"transcript": "ENST00000337120.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 756,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2842,
"cdna_start": 247,
"cds_end": null,
"cds_length": 2271,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145795.2",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139267.1",
"strand": true,
"transcript": "NM_001145795.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 756,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3178,
"cdna_start": 583,
"cds_end": null,
"cds_length": 2271,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001308293.2",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295222.1",
"strand": true,
"transcript": "NM_001308293.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 756,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3048,
"cdna_start": 453,
"cds_end": null,
"cds_length": 2271,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387404.1",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374333.1",
"strand": true,
"transcript": "NM_001387404.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 756,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3095,
"cdna_start": 500,
"cds_end": null,
"cds_length": 2271,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000322610.12",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000321221.7",
"strand": true,
"transcript": "ENST00000322610.12",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 756,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2950,
"cdna_start": 355,
"cds_end": null,
"cds_length": 2271,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893539.1",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563598.1",
"strand": true,
"transcript": "ENST00000893539.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 756,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3161,
"cdna_start": 559,
"cds_end": null,
"cds_length": 2271,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942394.1",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612453.1",
"strand": true,
"transcript": "ENST00000942394.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 683,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": 247,
"cds_end": null,
"cds_length": 2052,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145797.2",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139269.1",
"strand": true,
"transcript": "NM_001145797.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 671,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2942,
"cdna_start": 247,
"cds_end": null,
"cds_length": 2016,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145796.2",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139268.1",
"strand": true,
"transcript": "NM_001145796.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 671,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3259,
"cdna_start": 564,
"cds_end": null,
"cds_length": 2016,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145812.2",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139284.1",
"strand": true,
"transcript": "NM_001145812.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 671,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5008,
"cdna_start": 2313,
"cds_end": null,
"cds_length": 2016,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015503.3",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056318.2",
"strand": true,
"transcript": "NM_015503.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 671,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": 432,
"cds_end": null,
"cds_length": 2016,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395532.8",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378903.4",
"strand": true,
"transcript": "ENST00000395532.8",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 671,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2942,
"cdna_start": 247,
"cds_end": null,
"cds_length": 2016,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000707128.1",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516756.1",
"strand": true,
"transcript": "ENST00000707128.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 62,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 588,
"cdna_start": 459,
"cds_end": null,
"cds_length": 190,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000563591.5",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458097.1",
"strand": true,
"transcript": "ENST00000563591.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 55,
"aa_ref": "P",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 533,
"cdna_start": 424,
"cds_end": null,
"cds_length": 170,
"cds_start": 61,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000566209.1",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.61_63delCCCinsAGT",
"hgvs_p": "p.Pro21Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457214.1",
"strand": true,
"transcript": "ENST00000566209.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 373,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1488,
"cdna_start": null,
"cds_end": null,
"cds_length": 1122,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545570.5",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.10-1176_10-1174delCCCinsAGT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440354.1",
"strand": true,
"transcript": "ENST00000545570.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 335,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1877,
"cdna_start": null,
"cds_end": null,
"cds_length": 1008,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001308294.2",
"gene_hgnc_id": 30417,
"gene_symbol": "SH2B1",
"hgvs_c": "c.-26-1219_-26-1217delCCCinsAGT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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