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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: 15-45363947-A-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=45363947&ref=A&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP4_Strong",
"PM2_Supporting",
"PVS1_Strong",
"PM3_Supporting"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "GATM",
"hgnc_id": 4175,
"hgvs_c": "c.1111dupA",
"hgvs_p": "p.Met371fs",
"inheritance_mode": "AD,AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001482.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP4_Strong,PM2_Supporting,PVS1_Strong,PM3_Supporting",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Arginine:glycine amidinotransferase deficiency",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:1 O:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 423,
"aa_ref": "M",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2348,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 1272,
"cds_start": 1111,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001482.3",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.1111dupA",
"hgvs_p": "p.Met371fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396659.8",
"protein_coding": true,
"protein_id": "NP_001473.1",
"strand": false,
"transcript": "NM_001482.3",
"transcript_support_level": null
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 423,
"aa_ref": "M",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2348,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 1272,
"cds_start": 1111,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000396659.8",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.1111dupA",
"hgvs_p": "p.Met371fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001482.3",
"protein_coding": true,
"protein_id": "ENSP00000379895.3",
"strand": false,
"transcript": "ENST00000396659.8",
"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": 3911,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000558362.5",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "n.2767dupA",
"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": "ENST00000558362.5",
"transcript_support_level": 1
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 432,
"aa_ref": "M",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 1229,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1138,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000887717.1",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.1138dupA",
"hgvs_p": "p.Met380fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557776.1",
"strand": false,
"transcript": "ENST00000887717.1",
"transcript_support_level": null
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 429,
"aa_ref": "M",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 1290,
"cds_start": 1111,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000887714.1",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.1111dupA",
"hgvs_p": "p.Met371fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557773.1",
"strand": false,
"transcript": "ENST00000887714.1",
"transcript_support_level": null
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 421,
"aa_ref": "M",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1105,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000887712.1",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.1105dupA",
"hgvs_p": "p.Met369fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557771.1",
"strand": false,
"transcript": "ENST00000887712.1",
"transcript_support_level": null
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 405,
"aa_ref": "M",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 1218,
"cds_start": 1057,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000887711.1",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.1057dupA",
"hgvs_p": "p.Met353fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557770.1",
"strand": false,
"transcript": "ENST00000887711.1",
"transcript_support_level": null
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 403,
"aa_ref": "M",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1212,
"cds_start": 1051,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000675701.1",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.1051dupA",
"hgvs_p": "p.Met351fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502671.1",
"strand": false,
"transcript": "ENST00000675701.1",
"transcript_support_level": null
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 403,
"aa_ref": "M",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1212,
"cds_start": 1051,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000887713.1",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.1051dupA",
"hgvs_p": "p.Met351fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557772.1",
"strand": false,
"transcript": "ENST00000887713.1",
"transcript_support_level": null
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 391,
"aa_ref": "M",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1111,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000558336.5",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.1111dupA",
"hgvs_p": "p.Met371fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454008.1",
"strand": false,
"transcript": "ENST00000558336.5",
"transcript_support_level": 2
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 391,
"aa_ref": "M",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3964,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1111,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000675323.1",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.1111dupA",
"hgvs_p": "p.Met371fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502445.1",
"strand": false,
"transcript": "ENST00000675323.1",
"transcript_support_level": null
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 377,
"aa_ref": "M",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2207,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 1134,
"cds_start": 973,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000887716.1",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.973dupA",
"hgvs_p": "p.Met325fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557775.1",
"strand": false,
"transcript": "ENST00000887716.1",
"transcript_support_level": null
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 294,
"aa_ref": "M",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2804,
"cdna_start": 1658,
"cds_end": null,
"cds_length": 885,
"cds_start": 724,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001321015.2",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.724dupA",
"hgvs_p": "p.Met242fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307944.1",
"strand": false,
"transcript": "NM_001321015.2",
"transcript_support_level": null
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 476,
"aa_ref": "M",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4012,
"cdna_start": 2866,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1270,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047432385.1",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.1270dupA",
"hgvs_p": "p.Met424fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288341.1",
"strand": false,
"transcript": "XM_047432385.1",
"transcript_support_level": null
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 439,
"aa_ref": "M",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2814,
"cdna_start": 1668,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1159,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047432386.1",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.1159dupA",
"hgvs_p": "p.Met387fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288342.1",
"strand": false,
"transcript": "XM_047432386.1",
"transcript_support_level": null
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 439,
"aa_ref": "M",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2774,
"cdna_start": 1628,
"cds_end": null,
"cds_length": 1320,
"cds_start": 1159,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047432387.1",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.1159dupA",
"hgvs_p": "p.Met387fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288343.1",
"strand": false,
"transcript": "XM_047432387.1",
"transcript_support_level": null
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 294,
"aa_ref": "M",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 885,
"cds_start": 724,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047432388.1",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.724dupA",
"hgvs_p": "p.Met242fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288344.1",
"strand": false,
"transcript": "XM_047432388.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 384,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": null,
"cds_end": null,
"cds_length": 1155,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887715.1",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "c.1042+849dupA",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557774.1",
"strand": false,
"transcript": "ENST00000887715.1",
"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": 2051,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000674905.1",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "n.1111dupA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502176.1",
"strand": false,
"transcript": "ENST00000674905.1",
"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": 2142,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000675158.1",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "n.*11dupA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501737.1",
"strand": false,
"transcript": "ENST00000675158.1",
"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": 4323,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000675974.1",
"gene_hgnc_id": 4175,
"gene_symbol": "GATM",
"hgvs_c": "n.1982dupA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
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"transcript": "ENST00000675974.1",
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]
}