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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: 16-1685576-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1685576&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1685576,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001434664.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Ile",
"transcript": "NM_144570.3",
"protein_id": "NP_653171.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 190,
"cds_start": 182,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000248098.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144570.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Ile",
"transcript": "ENST00000248098.8",
"protein_id": "ENSP00000248098.3",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 190,
"cds_start": 182,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144570.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000248098.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "ENST00000565851.5",
"protein_id": "ENSP00000457424.1",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 166,
"cds_start": 134,
"cds_end": null,
"cds_length": 503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565851.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Ile",
"transcript": "ENST00000561516.5",
"protein_id": "ENSP00000454459.1",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 70,
"cds_start": 182,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561516.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261732",
"gene_hgnc_id": null,
"hgvs_c": "n.*3989C>T",
"hgvs_p": null,
"transcript": "ENST00000454337.1",
"protein_id": "ENSP00000399780.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000454337.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261732",
"gene_hgnc_id": null,
"hgvs_c": "n.*3989C>T",
"hgvs_p": null,
"transcript": "ENST00000454337.1",
"protein_id": "ENSP00000399780.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000454337.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "n.102-6267C>T",
"hgvs_p": null,
"transcript": "ENST00000569256.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000569256.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "NM_001434664.1",
"protein_id": "NP_001421593.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 232,
"cds_start": 266,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001434664.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "NM_001434665.1",
"protein_id": "NP_001421594.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 218,
"cds_start": 266,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001434665.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000562684.5",
"protein_id": "ENSP00000457694.1",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 218,
"cds_start": 266,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562684.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Ile",
"transcript": "NM_001434666.1",
"protein_id": "NP_001421595.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 204,
"cds_start": 182,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001434666.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Ile",
"transcript": "ENST00000932378.1",
"protein_id": "ENSP00000602437.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 190,
"cds_start": 182,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932378.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Ile",
"transcript": "ENST00000932379.1",
"protein_id": "ENSP00000602438.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 190,
"cds_start": 182,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932379.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Ile",
"transcript": "ENST00000566742.5",
"protein_id": "ENSP00000454567.1",
"transcript_support_level": 4,
"aa_start": 61,
"aa_end": null,
"aa_length": 189,
"cds_start": 182,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566742.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Ile",
"transcript": "ENST00000906367.1",
"protein_id": "ENSP00000576426.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 187,
"cds_start": 182,
"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": "ENST00000906367.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Ile",
"transcript": "NM_001434667.1",
"protein_id": "NP_001421596.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 178,
"cds_start": 146,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001434667.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Thr49Ile",
"transcript": "ENST00000382710.8",
"protein_id": "ENSP00000372157.4",
"transcript_support_level": 2,
"aa_start": 49,
"aa_end": null,
"aa_length": 178,
"cds_start": 146,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382710.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "ENST00000382711.9",
"protein_id": "ENSP00000372158.5",
"transcript_support_level": 4,
"aa_start": 45,
"aa_end": null,
"aa_length": 174,
"cds_start": 134,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382711.9"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Thr61Ile",
"transcript": "NM_001434668.1",
"protein_id": "NP_001421597.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 151,
"cds_start": 182,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001434668.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.77C>T",
"hgvs_p": "p.Thr26Ile",
"transcript": "ENST00000562569.1",
"protein_id": "ENSP00000457344.1",
"transcript_support_level": 3,
"aa_start": 26,
"aa_end": null,
"aa_length": 116,
"cds_start": 77,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562569.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Thr45Ile",
"transcript": "ENST00000566691.5",
"protein_id": "ENSP00000454529.1",
"transcript_support_level": 5,
"aa_start": 45,
"aa_end": null,
"aa_length": 114,
"cds_start": 134,
"cds_end": null,
"cds_length": 346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566691.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile",
"transcript": "ENST00000569765.5",
"protein_id": "ENSP00000457536.1",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 98,
"cds_start": 266,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569765.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "JPT2",
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"transcript": "ENST00000566925.5",
"protein_id": "ENSP00000456487.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566925.5"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 3,
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"gene_symbol": "JPT2",
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"hgvs_c": "n.219C>T",
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"transcript": "ENST00000567717.1",
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"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000567717.1"
},
{
"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": 3,
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"intron_rank_end": null,
"gene_symbol": "JPT2",
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"hgvs_c": "n.98C>T",
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"transcript": "ENST00000568376.1",
"protein_id": null,
"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000568376.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JPT2",
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"hgvs_c": "n.*60C>T",
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"transcript": "ENST00000566925.5",
"protein_id": "ENSP00000456487.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000566925.5"
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],
"gene_symbol": "JPT2",
"gene_hgnc_id": 14137,
"dbsnp": "rs775783585",
"frequency_reference_population": 0.000024786403,
"hom_count_reference_population": 0,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.0000253146,
"gnomad_genomes_af": 0.0000197135,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38192740082740784,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.306,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7923,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.136,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001434664.1",
"gene_symbol": "JPT2",
"hgnc_id": 14137,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.266C>T",
"hgvs_p": "p.Thr89Ile"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000454337.1",
"gene_symbol": "ENSG00000261732",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*3989C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}