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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: 10-11005419-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=11005419&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 11005419,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001326336.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Arg11Ile",
"transcript": "ENST00000416382.6",
"protein_id": "ENSP00000406451.2",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 508,
"cds_start": 32,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 99,
"cdna_end": null,
"cdna_length": 6894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Arg11Ile",
"transcript": "NM_001326336.2",
"protein_id": "NP_001313265.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 532,
"cds_start": 32,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 9297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Arg11Ile",
"transcript": "NM_001326331.2",
"protein_id": "NP_001313260.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 514,
"cds_start": 32,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 7885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Arg11Ile",
"transcript": "NM_001394502.1",
"protein_id": "NP_001381431.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 514,
"cds_start": 32,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 9243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Arg11Ile",
"transcript": "ENST00000631816.1",
"protein_id": "ENSP00000488268.1",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 514,
"cds_start": 32,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 43,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Arg11Ile",
"transcript": "NM_001326335.2",
"protein_id": "NP_001313264.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 512,
"cds_start": 32,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 7879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Arg11Ile",
"transcript": "NM_001025077.3",
"protein_id": "NP_001020248.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 508,
"cds_start": 32,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 9225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Arg11Ile",
"transcript": "NM_001326332.2",
"protein_id": "NP_001313261.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 508,
"cds_start": 32,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 7867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Arg11Ile",
"transcript": "ENST00000631460.1",
"protein_id": "ENSP00000488582.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 508,
"cds_start": 32,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 96,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Arg11Ile",
"transcript": "NM_001326337.2",
"protein_id": "NP_001313266.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 452,
"cds_start": 32,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 7699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Arg11Ile",
"transcript": "XM_024447776.2",
"protein_id": "XP_024303544.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 518,
"cds_start": 32,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 7897,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "n.32G>T",
"hgvs_p": null,
"transcript": "ENST00000633200.1",
"protein_id": "ENSP00000488438.1",
"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": 1496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.-226G>T",
"hgvs_p": null,
"transcript": "NM_001326334.2",
"protein_id": "NP_001313263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.-573G>T",
"hgvs_p": null,
"transcript": "NM_001326333.2",
"protein_id": "NP_001313262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.146+85420G>T",
"hgvs_p": null,
"transcript": "NM_001326325.2",
"protein_id": "NP_001313254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 539,
"cds_start": -4,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
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"cdna_length": 7933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.89+85420G>T",
"hgvs_p": null,
"transcript": "NM_001326327.2",
"protein_id": "NP_001313256.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.89+85420G>T",
"hgvs_p": null,
"transcript": "ENST00000637215.1",
"protein_id": "ENSP00000490185.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.89+85420G>T",
"hgvs_p": null,
"transcript": "NM_001326326.2",
"protein_id": "NP_001313255.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": -4,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
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"cdna_length": 7867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.89+85420G>T",
"hgvs_p": null,
"transcript": "ENST00000636488.1",
"protein_id": "ENSP00000489955.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.-20+64965G>T",
"hgvs_p": null,
"transcript": "NM_001326319.2",
"protein_id": "NP_001313248.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.-20+85420G>T",
"hgvs_p": null,
"transcript": "NM_001326323.2",
"protein_id": "NP_001313252.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.-20+85420G>T",
"hgvs_p": null,
"transcript": "NM_001326321.2",
"protein_id": "NP_001313250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": -4,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.-20+85420G>T",
"hgvs_p": null,
"transcript": "NM_001326318.2",
"protein_id": "NP_001313247.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
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"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.-695G>T",
"hgvs_p": null,
"transcript": "NM_001326339.2",
"protein_id": "NP_001313268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.-695G>T",
"hgvs_p": null,
"transcript": "NM_001326338.2",
"protein_id": "NP_001313267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": -4,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.-517G>T",
"hgvs_p": null,
"transcript": "XM_047424495.1",
"protein_id": "XP_047280451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.620155930519104,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.474,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3538,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.588,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001326336.2",
"gene_symbol": "CELF2",
"hgnc_id": 2550,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.32G>T",
"hgvs_p": "p.Arg11Ile"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}