← 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: 13-110641548-A-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=110641548&ref=A&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PVS1_Moderate",
"BP6",
"BS2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "CARS2",
"hgnc_id": 25695,
"hgvs_c": "c.1683dupA",
"hgvs_p": "p.Ser562fs",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_024537.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PVS1_Moderate,BP6,BS2",
"acmg_score": -3,
"allele_count_reference_population": 5415,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "13",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "CARS2-related disorder,Combined oxidative phosphorylation defect type 27,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:2",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 564,
"aa_ref": "K",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": 1706,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1683,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_024537.4",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1683dupA",
"hgvs_p": "p.Ser562fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257347.9",
"protein_coding": true,
"protein_id": "NP_078813.1",
"strand": false,
"transcript": "NM_024537.4",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 564,
"aa_ref": "K",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": 1706,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1683,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000257347.9",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1683dupA",
"hgvs_p": "p.Ser562fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024537.4",
"protein_coding": true,
"protein_id": "ENSP00000257347.4",
"strand": false,
"transcript": "ENST00000257347.9",
"transcript_support_level": 1
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 612,
"aa_ref": "K",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1976,
"cdna_start": 1846,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1827,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000939453.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1827dupA",
"hgvs_p": "p.Ser610fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609512.1",
"strand": false,
"transcript": "ENST00000939453.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 562,
"aa_ref": "K",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1843,
"cdna_start": 1706,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1677,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890914.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1677dupA",
"hgvs_p": "p.Ser560fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560973.1",
"strand": false,
"transcript": "ENST00000890914.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 562,
"aa_ref": "K",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": 1717,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1677,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000939450.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1677dupA",
"hgvs_p": "p.Ser560fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609509.1",
"strand": false,
"transcript": "ENST00000939450.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 536,
"aa_ref": "K",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1599,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000939451.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1599dupA",
"hgvs_p": "p.Ser534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609510.1",
"strand": false,
"transcript": "ENST00000939451.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 531,
"aa_ref": "K",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1762,
"cdna_start": 1624,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1584,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890913.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1584dupA",
"hgvs_p": "p.Ser529fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560972.1",
"strand": false,
"transcript": "ENST00000890913.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 519,
"aa_ref": "K",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1709,
"cdna_start": 1581,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1548,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000939452.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1548dupA",
"hgvs_p": "p.Ser517fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609511.1",
"strand": false,
"transcript": "ENST00000939452.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 387,
"aa_ref": "K",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1288,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 1164,
"cds_start": 1152,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000960810.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1152dupA",
"hgvs_p": "p.Ser385fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630869.1",
"strand": false,
"transcript": "ENST00000960810.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 366,
"aa_ref": "K",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1235,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 1101,
"cds_start": 1089,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000890915.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1089dupA",
"hgvs_p": "p.Ser364fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560974.1",
"strand": false,
"transcript": "ENST00000890915.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 302,
"aa_ref": "K",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 909,
"cds_start": 897,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001352252.2",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.897dupA",
"hgvs_p": "p.Ser300fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339181.1",
"strand": false,
"transcript": "NM_001352252.2",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 451,
"aa_ref": "K",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": 1845,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1344,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_006719953.4",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1344dupA",
"hgvs_p": "p.Ser449fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720016.1",
"strand": false,
"transcript": "XM_006719953.4",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 449,
"aa_ref": "K",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1561,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1338,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047430606.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.1338dupA",
"hgvs_p": "p.Ser447fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286562.1",
"strand": false,
"transcript": "XM_047430606.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 302,
"aa_ref": "K",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1330,
"cdna_start": 1198,
"cds_end": null,
"cds_length": 909,
"cds_start": 897,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047430609.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "c.897dupA",
"hgvs_p": "p.Ser300fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286565.1",
"strand": false,
"transcript": "XM_047430609.1",
"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": 2747,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000375781.9",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "n.2615dupA",
"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": "ENST00000375781.9",
"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": 1223,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000481787.6",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "n.1117dupA",
"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": "ENST00000481787.6",
"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": 2313,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000535516.5",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "n.2183dupA",
"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": "ENST00000535516.5",
"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": 3225,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000537802.5",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "n.3095dupA",
"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": "ENST00000537802.5",
"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": 1485,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000540006.5",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "n.1348dupA",
"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": "ENST00000540006.5",
"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": 3516,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000541239.5",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "n.3379dupA",
"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": "ENST00000541239.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1906,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NR_147941.1",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "n.1767dupA",
"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": "NR_147941.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NR_147942.2",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "n.2102dupA",
"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": "NR_147942.2",
"transcript_support_level": null
},
{
"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": 844,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000487253.6",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "n.*352dupA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000438267.1",
"strand": true,
"transcript": "ENST00000487253.6",
"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": 647,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000542774.5",
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"hgvs_c": "n.*35dupA",
"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": "ENST00000542774.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs575601185",
"effect": "frameshift_variant",
"frequency_reference_population": 0.0033558337,
"gene_hgnc_id": 25695,
"gene_symbol": "CARS2",
"gnomad_exomes_ac": 5108,
"gnomad_exomes_af": 0.00349533,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_ac": 307,
"gnomad_genomes_af": 0.00201669,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 6,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not provided|Combined oxidative phosphorylation defect type 27|CARS2-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.061,
"pos": 110641548,
"ref": "A",
"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_024537.4"
}
]
}