← 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: 12-128814840-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=128814840&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SLC15A4",
"hgnc_id": 23090,
"hgvs_c": "c.777C>T",
"hgvs_p": "p.Asp259Asp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_145648.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ENSG00000279500",
"hgnc_id": null,
"hgvs_c": "n.-90C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000623017.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 182160,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8299999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 577,
"aa_ref": "D",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2751,
"cdna_start": 792,
"cds_end": null,
"cds_length": 1734,
"cds_start": 777,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_145648.4",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "c.777C>T",
"hgvs_p": "p.Asp259Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000266771.10",
"protein_coding": true,
"protein_id": "NP_663623.1",
"strand": false,
"transcript": "NM_145648.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 577,
"aa_ref": "D",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2751,
"cdna_start": 792,
"cds_end": null,
"cds_length": 1734,
"cds_start": 777,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000266771.10",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "c.777C>T",
"hgvs_p": "p.Asp259Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145648.4",
"protein_coding": true,
"protein_id": "ENSP00000266771.5",
"strand": false,
"transcript": "ENST00000266771.10",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 627,
"aa_ref": "D",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2941,
"cdna_start": 982,
"cds_end": null,
"cds_length": 1884,
"cds_start": 927,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000923390.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Asp309Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593449.1",
"strand": false,
"transcript": "ENST00000923390.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 569,
"aa_ref": "D",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": 828,
"cds_end": null,
"cds_length": 1710,
"cds_start": 777,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000964262.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "c.777C>T",
"hgvs_p": "p.Asp259Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634321.1",
"strand": false,
"transcript": "ENST00000964262.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 558,
"aa_ref": "D",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2740,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1677,
"cds_start": 777,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000964261.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "c.777C>T",
"hgvs_p": "p.Asp259Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634320.1",
"strand": false,
"transcript": "ENST00000964261.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 542,
"aa_ref": "D",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2649,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1629,
"cds_start": 672,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000923392.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "c.672C>T",
"hgvs_p": "p.Asp224Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593451.1",
"strand": false,
"transcript": "ENST00000923392.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 541,
"aa_ref": "D",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2717,
"cdna_start": 761,
"cds_end": null,
"cds_length": 1626,
"cds_start": 669,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000964260.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Asp223Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634319.1",
"strand": false,
"transcript": "ENST00000964260.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 524,
"aa_ref": "D",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2586,
"cdna_start": 785,
"cds_end": null,
"cds_length": 1575,
"cds_start": 777,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000964264.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "c.777C>T",
"hgvs_p": "p.Asp259Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634323.1",
"strand": false,
"transcript": "ENST00000964264.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 627,
"aa_ref": "D",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2901,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1884,
"cds_start": 927,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011537895.2",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Asp309Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536197.1",
"strand": false,
"transcript": "XM_011537895.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 292,
"aa_ref": "D",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 916,
"cdna_start": 792,
"cds_end": null,
"cds_length": 879,
"cds_start": 777,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047428283.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "c.777C>T",
"hgvs_p": "p.Asp259Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284239.1",
"strand": false,
"transcript": "XM_047428283.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 534,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": null,
"cds_end": null,
"cds_length": 1605,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923391.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "c.714-4729C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593450.1",
"strand": false,
"transcript": "ENST00000923391.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 488,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2497,
"cdna_start": null,
"cds_end": null,
"cds_length": 1467,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964263.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "c.547-37C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634322.1",
"strand": false,
"transcript": "ENST00000964263.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 459,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2421,
"cdna_start": null,
"cds_end": null,
"cds_length": 1380,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868022.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "c.547-4787C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538081.1",
"strand": false,
"transcript": "ENST00000868022.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 422,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": null,
"cds_end": null,
"cds_length": 1269,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868021.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "c.547-5367C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538080.1",
"strand": false,
"transcript": "ENST00000868021.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 403,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2221,
"cdna_start": null,
"cds_end": null,
"cds_length": 1212,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923393.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "c.547-5367C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593452.1",
"strand": false,
"transcript": "ENST00000923393.1",
"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": 1604,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000366292.6",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "n.1089C>T",
"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": "ENST00000366292.6",
"transcript_support_level": 4
},
{
"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": 761,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000376740.8",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "n.354C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000365930.5",
"strand": false,
"transcript": "ENST00000376740.8",
"transcript_support_level": 5
},
{
"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": 2402,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000376744.8",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "n.612C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000365935.4",
"strand": false,
"transcript": "ENST00000376744.8",
"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": 634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000539703.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "n.427C>T",
"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": "ENST00000539703.1",
"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": 6949,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_007063043.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "n.792C>T",
"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": "XR_007063043.1",
"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": 6919,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_007063044.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "n.792C>T",
"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": "XR_007063044.1",
"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": 11018,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_007063045.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "n.4861C>T",
"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": "XR_007063045.1",
"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": 1027,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_007063046.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "n.792C>T",
"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": "XR_007063046.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "TEC",
"canonical": false,
"cdna_end": null,
"cdna_length": 1565,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000623017.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000279500",
"hgvs_c": "n.-90C>T",
"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": "ENST00000623017.1",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 451,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000535272.1",
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"hgvs_c": "n.*120C>T",
"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": "ENST00000535272.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs10847697",
"effect": "synonymous_variant",
"frequency_reference_population": 0.112862594,
"gene_hgnc_id": 23090,
"gene_symbol": "SLC15A4",
"gnomad_exomes_ac": 167754,
"gnomad_exomes_af": 0.114761,
"gnomad_exomes_homalt": 10806,
"gnomad_genomes_ac": 14406,
"gnomad_genomes_af": 0.0946306,
"gnomad_genomes_homalt": 931,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 11737,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.545,
"pos": 128814840,
"ref": "G",
"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_145648.4"
}
]
}