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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: 21-42389039-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=42389039&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"PP2",
"BP4_Strong",
"BP6",
"BS1",
"BS2_Supporting"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMPRSS3",
"hgnc_id": 11877,
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": -9,
"transcript": "NM_024022.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BP6,BS1,BS2_Supporting",
"acmg_score": -9,
"allele_count_reference_population": 408,
"alphamissense_prediction": null,
"alphamissense_score": 0.4436,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.02,
"chr": "21",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 8,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.008987516164779663,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 453,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 374,
"cds_end": null,
"cds_length": 1362,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001256317.3",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644384.2",
"protein_coding": true,
"protein_id": "NP_001243246.1",
"strand": false,
"transcript": "NM_001256317.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 453,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 374,
"cds_end": null,
"cds_length": 1362,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000644384.2",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001256317.3",
"protein_coding": true,
"protein_id": "ENSP00000494414.1",
"strand": false,
"transcript": "ENST00000644384.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 454,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 374,
"cds_end": null,
"cds_length": 1365,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000433957.7",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411013.3",
"strand": false,
"transcript": "ENST00000433957.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1342,
"cdna_start": 413,
"cds_end": null,
"cds_length": 1035,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000398397.3",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381434.3",
"strand": false,
"transcript": "ENST00000398397.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000474596.5",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "n.80T>C",
"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": "ENST00000474596.5",
"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": 2524,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000482761.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "n.499T>C",
"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": "ENST00000482761.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 455,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2469,
"cdna_start": 441,
"cds_end": null,
"cds_length": 1368,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896622.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566681.1",
"strand": false,
"transcript": "ENST00000896622.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 455,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 490,
"cds_end": null,
"cds_length": 1368,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896631.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566690.1",
"strand": false,
"transcript": "ENST00000896631.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 454,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 374,
"cds_end": null,
"cds_length": 1365,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_024022.4",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_076927.1",
"strand": false,
"transcript": "NM_024022.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 454,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 441,
"cds_end": null,
"cds_length": 1365,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896621.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566680.1",
"strand": false,
"transcript": "ENST00000896621.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 454,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 564,
"cds_end": null,
"cds_length": 1365,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896625.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566684.1",
"strand": false,
"transcript": "ENST00000896625.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 454,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2687,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1365,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896629.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566688.1",
"strand": false,
"transcript": "ENST00000896629.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 454,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1808,
"cdna_start": 307,
"cds_end": null,
"cds_length": 1365,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896630.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566689.1",
"strand": false,
"transcript": "ENST00000896630.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 454,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 564,
"cds_end": null,
"cds_length": 1365,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957272.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627331.1",
"strand": false,
"transcript": "ENST00000957272.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 453,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2544,
"cdna_start": 564,
"cds_end": null,
"cds_length": 1362,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000652415.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498756.1",
"strand": false,
"transcript": "ENST00000652415.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 453,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2384,
"cdna_start": 312,
"cds_end": null,
"cds_length": 1362,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896627.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566686.1",
"strand": false,
"transcript": "ENST00000896627.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 453,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2739,
"cdna_start": 717,
"cds_end": null,
"cds_length": 1362,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896628.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566687.1",
"strand": false,
"transcript": "ENST00000896628.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 451,
"aa_ref": "F",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 732,
"cds_end": null,
"cds_length": 1356,
"cds_start": 206,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000398405.5",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.206T>C",
"hgvs_p": "p.Phe69Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381442.1",
"strand": false,
"transcript": "ENST00000398405.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 417,
"aa_ref": "F",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 243,
"cds_end": null,
"cds_length": 1254,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000957273.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.101T>C",
"hgvs_p": "p.Phe34Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627332.1",
"strand": false,
"transcript": "ENST00000957273.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 388,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 416,
"cds_end": null,
"cds_length": 1167,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896623.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Phe71Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566682.1",
"strand": false,
"transcript": "ENST00000896623.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 387,
"aa_ref": "F",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 374,
"cds_end": null,
"cds_length": 1164,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896624.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.212T>C",
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]
}