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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: 9-122851424-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=122851424&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RC3H2",
"hgnc_id": 21461,
"hgvs_c": "c.3130T>C",
"hgvs_p": "p.Tyr1044His",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001100588.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1224,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16341719031333923,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "Y",
"aa_start": 1044,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8964,
"cdna_start": 3447,
"cds_end": null,
"cds_length": 3576,
"cds_start": 3130,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001100588.3",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.3130T>C",
"hgvs_p": "p.Tyr1044His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357244.7",
"protein_coding": true,
"protein_id": "NP_001094058.1",
"strand": false,
"transcript": "NM_001100588.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "Y",
"aa_start": 1044,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8964,
"cdna_start": 3447,
"cds_end": null,
"cds_length": 3576,
"cds_start": 3130,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000357244.7",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.3130T>C",
"hgvs_p": "p.Tyr1044His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001100588.3",
"protein_coding": true,
"protein_id": "ENSP00000349783.2",
"strand": false,
"transcript": "ENST00000357244.7",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "Y",
"aa_start": 1044,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9248,
"cdna_start": 3731,
"cds_end": null,
"cds_length": 3576,
"cds_start": 3130,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000373670.5",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.3130T>C",
"hgvs_p": "p.Tyr1044His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362774.1",
"strand": false,
"transcript": "ENST00000373670.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "Y",
"aa_start": 1044,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4327,
"cdna_start": 3696,
"cds_end": null,
"cds_length": 3576,
"cds_start": 3130,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000954280.1",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.3130T>C",
"hgvs_p": "p.Tyr1044His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624339.1",
"strand": false,
"transcript": "ENST00000954280.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "Y",
"aa_start": 1044,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4028,
"cdna_start": 3410,
"cds_end": null,
"cds_length": 3576,
"cds_start": 3130,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000954288.1",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.3130T>C",
"hgvs_p": "p.Tyr1044His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624347.1",
"strand": false,
"transcript": "ENST00000954288.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "Y",
"aa_start": 1044,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4004,
"cdna_start": 3373,
"cds_end": null,
"cds_length": 3576,
"cds_start": 3130,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000954289.1",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.3130T>C",
"hgvs_p": "p.Tyr1044His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624348.1",
"strand": false,
"transcript": "ENST00000954289.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "Y",
"aa_start": 1042,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5831,
"cdna_start": 3313,
"cds_end": null,
"cds_length": 3570,
"cds_start": 3124,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000915905.1",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.3124T>C",
"hgvs_p": "p.Tyr1042His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585964.1",
"strand": false,
"transcript": "ENST00000915905.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "Y",
"aa_start": 1042,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8954,
"cdna_start": 3441,
"cds_end": null,
"cds_length": 3570,
"cds_start": 3124,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000954276.1",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.3124T>C",
"hgvs_p": "p.Tyr1042His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624335.1",
"strand": false,
"transcript": "ENST00000954276.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "Y",
"aa_start": 1042,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6062,
"cdna_start": 3375,
"cds_end": null,
"cds_length": 3570,
"cds_start": 3124,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000954278.1",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.3124T>C",
"hgvs_p": "p.Tyr1042His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624337.1",
"strand": false,
"transcript": "ENST00000954278.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "Y",
"aa_start": 1042,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4058,
"cdna_start": 3427,
"cds_end": null,
"cds_length": 3570,
"cds_start": 3124,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000954284.1",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.3124T>C",
"hgvs_p": "p.Tyr1042His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624343.1",
"strand": false,
"transcript": "ENST00000954284.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "Y",
"aa_start": 1042,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4034,
"cdna_start": 3416,
"cds_end": null,
"cds_length": 3570,
"cds_start": 3124,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000954287.1",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.3124T>C",
"hgvs_p": "p.Tyr1042His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624346.1",
"strand": false,
"transcript": "ENST00000954287.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1134,
"aa_ref": "Y",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8793,
"cdna_start": 3276,
"cds_end": null,
"cds_length": 3405,
"cds_start": 2959,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001354479.2",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.2959T>C",
"hgvs_p": "p.Tyr987His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341408.1",
"strand": false,
"transcript": "NM_001354479.2",
"transcript_support_level": null
},
{
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"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8753,
"cdna_start": 3236,
"cds_end": null,
"cds_length": 3405,
"cds_start": 2959,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000915904.1",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.2959T>C",
"hgvs_p": "p.Tyr987His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585963.1",
"strand": false,
"transcript": "ENST00000915904.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1129,
"aa_ref": "Y",
"aa_start": 1044,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8945,
"cdna_start": 3447,
"cds_end": null,
"cds_length": 3390,
"cds_start": 3130,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001354478.2",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.3130T>C",
"hgvs_p": "p.Tyr1044His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341407.1",
"strand": false,
"transcript": "NM_001354478.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3834,
"cdna_start": 3215,
"cds_end": null,
"cds_length": 3342,
"cds_start": 2896,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000954282.1",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.2896T>C",
"hgvs_p": "p.Tyr966His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624341.1",
"strand": false,
"transcript": "ENST00000954282.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1111,
"aa_ref": "Y",
"aa_start": 964,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8703,
"cdna_start": 3186,
"cds_end": null,
"cds_length": 3336,
"cds_start": 2890,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000915902.1",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.2890T>C",
"hgvs_p": "p.Tyr964His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585961.1",
"strand": false,
"transcript": "ENST00000915902.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1088,
"aa_ref": "Y",
"aa_start": 941,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8618,
"cdna_start": 3101,
"cds_end": null,
"cds_length": 3267,
"cds_start": 2821,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000915903.1",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.2821T>C",
"hgvs_p": "p.Tyr941His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585962.1",
"strand": false,
"transcript": "ENST00000915903.1",
"transcript_support_level": null
},
{
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"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 923,
"cdna_start": 306,
"cds_end": null,
"cds_length": 564,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000454740.5",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.304T>C",
"hgvs_p": "p.Tyr102His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398081.1",
"strand": false,
"transcript": "ENST00000454740.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8850,
"cdna_start": null,
"cds_end": null,
"cds_length": 3462,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354482.2",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.3118-195T>C",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341411.1",
"strand": false,
"transcript": "NM_001354482.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1153,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4123,
"cdna_start": null,
"cds_end": null,
"cds_length": 3462,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885804.1",
"gene_hgnc_id": 21461,
"gene_symbol": "RC3H2",
"hgvs_c": "c.3118-195T>C",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555863.1",
"strand": false,
"transcript": "ENST00000885804.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1096,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3778,
"cdna_start": null,
"cds_end": null,
"cds_length": 3291,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954286.1",
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