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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: 9-3898723-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=3898723&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 3898723,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000381971.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.2096G>C",
"hgvs_p": "p.Arg699Pro",
"transcript": "NM_001042413.2",
"protein_id": "NP_001035878.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 930,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2842,
"cdna_end": null,
"cdna_length": 7684,
"mane_select": "ENST00000381971.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.2096G>C",
"hgvs_p": "p.Arg699Pro",
"transcript": "ENST00000381971.8",
"protein_id": "ENSP00000371398.3",
"transcript_support_level": 5,
"aa_start": 699,
"aa_end": null,
"aa_length": 930,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2842,
"cdna_end": null,
"cdna_length": 7684,
"mane_select": "NM_001042413.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1631G>C",
"hgvs_p": "p.Arg544Pro",
"transcript": "ENST00000324333.14",
"protein_id": "ENSP00000325494.10",
"transcript_support_level": 1,
"aa_start": 544,
"aa_end": null,
"aa_length": 775,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 6667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3-AS1",
"gene_hgnc_id": 28260,
"hgvs_c": "n.82C>G",
"hgvs_p": null,
"transcript": "ENST00000451340.3",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.636G>C",
"hgvs_p": null,
"transcript": "ENST00000467497.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.*1459G>C",
"hgvs_p": null,
"transcript": "ENST00000491889.6",
"protein_id": "ENSP00000419914.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.*1459G>C",
"hgvs_p": null,
"transcript": "ENST00000491889.6",
"protein_id": "ENSP00000419914.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.2096G>C",
"hgvs_p": "p.Arg699Pro",
"transcript": "NM_001438906.1",
"protein_id": "NP_001425835.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 930,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 7149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.2096G>C",
"hgvs_p": "p.Arg699Pro",
"transcript": "NM_001438907.1",
"protein_id": "NP_001425836.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 930,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 7253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.2096G>C",
"hgvs_p": "p.Arg699Pro",
"transcript": "NM_001438908.1",
"protein_id": "NP_001425837.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 930,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2754,
"cdna_end": null,
"cdna_length": 7596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1631G>C",
"hgvs_p": "p.Arg544Pro",
"transcript": "NM_001438909.1",
"protein_id": "NP_001425838.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 775,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2356,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1631G>C",
"hgvs_p": "p.Arg544Pro",
"transcript": "NM_152629.4",
"protein_id": "NP_689842.3",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 775,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 6667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1631G>C",
"hgvs_p": "p.Arg544Pro",
"transcript": "ENST00000682749.1",
"protein_id": "ENSP00000507306.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 775,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 6671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1430G>C",
"hgvs_p": "p.Arg477Pro",
"transcript": "NM_001438911.1",
"protein_id": "NP_001425840.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 708,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2634,
"cdna_end": null,
"cdna_length": 7476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1430G>C",
"hgvs_p": "p.Arg477Pro",
"transcript": "NM_001438912.1",
"protein_id": "NP_001425841.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 708,
"cds_start": 1430,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 6990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.2096G>C",
"hgvs_p": "p.Arg699Pro",
"transcript": "XM_011517763.3",
"protein_id": "XP_011516065.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 930,
"cds_start": 2096,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2498,
"cdna_end": null,
"cdna_length": 7340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1841G>C",
"hgvs_p": "p.Arg614Pro",
"transcript": "XM_047422890.1",
"protein_id": "XP_047278846.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 845,
"cds_start": 1841,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2830,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1631G>C",
"hgvs_p": "p.Arg544Pro",
"transcript": "XM_011517766.3",
"protein_id": "XP_011516068.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 775,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2898,
"cdna_end": null,
"cdna_length": 7740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "c.1631G>C",
"hgvs_p": "p.Arg544Pro",
"transcript": "XM_017014361.2",
"protein_id": "XP_016869850.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 775,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 10173,
"cdna_end": null,
"cdna_length": 15015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.452G>C",
"hgvs_p": null,
"transcript": "ENST00000461870.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.386G>C",
"hgvs_p": null,
"transcript": "ENST00000463680.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.654G>C",
"hgvs_p": null,
"transcript": "ENST00000464391.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLIS3",
"gene_hgnc_id": 28510,
"hgvs_c": "n.538G>C",
"hgvs_p": null,
"transcript": "ENST00000645252.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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{
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"verdict": "Uncertain_significance",
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"non_coding_transcript_exon_variant"
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"inheritance_mode": "",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}