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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: 2-240874035-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240874035&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AGXT",
"hgnc_id": 341,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"inheritance_mode": "AR",
"pathogenic_score": 21,
"score": 21,
"transcript": "NM_000030.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 21,
"allele_count_reference_population": 5,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.6736,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.26,
"chr": "2",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " type I,Primary hyperoxaluria,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.995766818523407,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 392,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2900,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1179,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000030.3",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000307503.4",
"protein_coding": true,
"protein_id": "NP_000021.1",
"strand": true,
"transcript": "NM_000030.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 392,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2900,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1179,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000307503.4",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000030.3",
"protein_coding": true,
"protein_id": "ENSP00000302620.3",
"strand": true,
"transcript": "ENST00000307503.4",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 483,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1452,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908235.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578294.1",
"strand": true,
"transcript": "ENST00000908235.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 455,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1707,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1368,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908236.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578295.1",
"strand": true,
"transcript": "ENST00000908236.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 441,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1326,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908246.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578305.1",
"strand": true,
"transcript": "ENST00000908246.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1573,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1260,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908247.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578306.1",
"strand": true,
"transcript": "ENST00000908247.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 417,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1254,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908244.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578303.1",
"strand": true,
"transcript": "ENST00000908244.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 409,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1629,
"cdna_start": 717,
"cds_end": null,
"cds_length": 1230,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908232.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578291.1",
"strand": true,
"transcript": "ENST00000908232.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 406,
"aa_ref": "S",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2941,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1221,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000908229.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Ser232Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578288.1",
"strand": true,
"transcript": "ENST00000908229.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 398,
"aa_ref": "S",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 960,
"cds_end": null,
"cds_length": 1197,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908228.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578287.1",
"strand": true,
"transcript": "ENST00000908228.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 398,
"aa_ref": "S",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1533,
"cdna_start": 713,
"cds_end": null,
"cds_length": 1197,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908243.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Ser224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578302.1",
"strand": true,
"transcript": "ENST00000908243.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 398,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1531,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1197,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908245.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578304.1",
"strand": true,
"transcript": "ENST00000908245.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 391,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1512,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1176,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908242.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Ser217Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578301.1",
"strand": true,
"transcript": "ENST00000908242.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 389,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1170,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908230.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578289.1",
"strand": true,
"transcript": "ENST00000908230.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 388,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1506,
"cdna_start": 683,
"cds_end": null,
"cds_length": 1167,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908238.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.641C>T",
"hgvs_p": "p.Ser214Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578297.1",
"strand": true,
"transcript": "ENST00000908238.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "S",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1735,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1128,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908231.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.602C>T",
"hgvs_p": "p.Ser201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578290.1",
"strand": true,
"transcript": "ENST00000908231.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 373,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1458,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1122,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908241.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578300.1",
"strand": true,
"transcript": "ENST00000908241.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 370,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1449,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1113,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908240.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578299.1",
"strand": true,
"transcript": "ENST00000908240.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 360,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1083,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908233.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578292.1",
"strand": true,
"transcript": "ENST00000908233.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 349,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1389,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1050,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000908237.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ser218Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578296.1",
"strand": true,
"transcript": "ENST00000908237.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 302,
"aa_ref": "S",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1245,
"cdna_start": 422,
"cds_end": null,
"cds_length": 909,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000908239.1",
"gene_hgnc_id": 341,
"gene_symbol": "AGXT",
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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