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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: 19-39435881-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=39435881&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 39435881,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001363860.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "NM_001020.6",
"protein_id": "NP_001011.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 146,
"cds_start": 15,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000251453.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001020.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000251453.8",
"protein_id": "ENSP00000251453.2",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 146,
"cds_start": 15,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001020.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251453.8"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000339471.8",
"protein_id": "ENSP00000367806.2",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 152,
"cds_start": 15,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339471.8"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000601655.5",
"protein_id": "ENSP00000472231.1",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 129,
"cds_start": 15,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601655.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000912434.1",
"protein_id": "ENSP00000582493.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 187,
"cds_start": 15,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912434.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000912441.1",
"protein_id": "ENSP00000582500.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 153,
"cds_start": 15,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912441.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "NM_001363860.2",
"protein_id": "NP_001350789.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 152,
"cds_start": 15,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363860.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000870286.1",
"protein_id": "ENSP00000540345.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 145,
"cds_start": 15,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870286.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000912431.1",
"protein_id": "ENSP00000582490.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 143,
"cds_start": 15,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912431.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000912429.1",
"protein_id": "ENSP00000582488.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 141,
"cds_start": 15,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912429.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000912439.1",
"protein_id": "ENSP00000582498.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 139,
"cds_start": 15,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912439.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000870287.1",
"protein_id": "ENSP00000540346.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 138,
"cds_start": 15,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870287.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000912442.1",
"protein_id": "ENSP00000582501.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 137,
"cds_start": 15,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912442.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000912436.1",
"protein_id": "ENSP00000582495.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 136,
"cds_start": 15,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912436.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000912440.1",
"protein_id": "ENSP00000582499.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 135,
"cds_start": 15,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912440.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000912430.1",
"protein_id": "ENSP00000582489.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 130,
"cds_start": 15,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912430.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "NM_001321111.2",
"protein_id": "NP_001308040.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 129,
"cds_start": 15,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321111.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000912438.1",
"protein_id": "ENSP00000582497.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 129,
"cds_start": 15,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912438.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000912432.1",
"protein_id": "ENSP00000582491.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 128,
"cds_start": 15,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912432.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000912435.1",
"protein_id": "ENSP00000582494.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 121,
"cds_start": 15,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912435.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000912437.1",
"protein_id": "ENSP00000582496.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 113,
"cds_start": 15,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912437.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS16",
"gene_hgnc_id": 10396,
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly",
"transcript": "ENST00000912433.1",
"protein_id": "ENSP00000582492.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 112,
"cds_start": 15,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912433.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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{
"aa_ref": null,
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"canonical": false,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "RPS16",
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"biotype": "retained_intron",
"feature": "ENST00000601390.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 4,
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"gene_symbol": "RPS16",
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"hgvs_c": "c.-176C>G",
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"transcript": "ENST00000599705.1",
"protein_id": "ENSP00000471983.1",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599705.1"
}
],
"gene_symbol": "RPS16",
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"dbsnp": "rs17626",
"frequency_reference_population": 0.000006577822,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 0.00000206204,
"gnomad_genomes_af": 0.00000657782,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6899999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.921,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001363860.2",
"gene_symbol": "RPS16",
"hgnc_id": 10396,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.15C>G",
"hgvs_p": "p.Gly5Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}