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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: 10-11329004-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=11329004&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 11329004,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001326325.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1517G>T",
"hgvs_p": "p.Arg506Leu",
"transcript": "NM_001326342.2",
"protein_id": "NP_001313271.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 521,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000633077.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326342.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1517G>T",
"hgvs_p": "p.Arg506Leu",
"transcript": "ENST00000633077.2",
"protein_id": "ENSP00000488690.1",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 521,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001326342.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000633077.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1553G>T",
"hgvs_p": "p.Arg518Leu",
"transcript": "ENST00000632065.1",
"protein_id": "ENSP00000488422.1",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 533,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000632065.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1517G>T",
"hgvs_p": "p.Arg506Leu",
"transcript": "ENST00000542579.5",
"protein_id": "ENSP00000443926.1",
"transcript_support_level": 1,
"aa_start": 506,
"aa_end": null,
"aa_length": 521,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542579.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1478G>T",
"hgvs_p": "p.Arg493Leu",
"transcript": "ENST00000416382.6",
"protein_id": "ENSP00000406451.2",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 508,
"cds_start": 1478,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416382.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1424G>T",
"hgvs_p": "p.Arg475Leu",
"transcript": "ENST00000417956.6",
"protein_id": "ENSP00000404834.3",
"transcript_support_level": 1,
"aa_start": 475,
"aa_end": null,
"aa_length": 490,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417956.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1418G>T",
"hgvs_p": "p.Arg473Leu",
"transcript": "ENST00000608830.5",
"protein_id": "ENSP00000476999.1",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 488,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000608830.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1571G>T",
"hgvs_p": "p.Arg524Leu",
"transcript": "NM_001326325.2",
"protein_id": "NP_001313254.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 539,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326325.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1571G>T",
"hgvs_p": "p.Arg524Leu",
"transcript": "NM_001326343.2",
"protein_id": "NP_001313272.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 539,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326343.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1553G>T",
"hgvs_p": "p.Arg518Leu",
"transcript": "NM_001326340.2",
"protein_id": "NP_001313269.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 533,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326340.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1550G>T",
"hgvs_p": "p.Arg517Leu",
"transcript": "NM_001326336.2",
"protein_id": "NP_001313265.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 532,
"cds_start": 1550,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326336.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1532G>T",
"hgvs_p": "p.Arg511Leu",
"transcript": "NM_001326327.2",
"protein_id": "NP_001313256.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 526,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326327.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1532G>T",
"hgvs_p": "p.Arg511Leu",
"transcript": "ENST00000637215.1",
"protein_id": "ENSP00000490185.1",
"transcript_support_level": 5,
"aa_start": 511,
"aa_end": null,
"aa_length": 526,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637215.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1529G>T",
"hgvs_p": "p.Arg510Leu",
"transcript": "ENST00000904655.1",
"protein_id": "ENSP00000574714.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 525,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904655.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1517G>T",
"hgvs_p": "p.Arg506Leu",
"transcript": "NM_006561.4",
"protein_id": "NP_006552.3",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 521,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006561.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1514G>T",
"hgvs_p": "p.Arg505Leu",
"transcript": "NM_001326326.2",
"protein_id": "NP_001313255.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 520,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326326.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1514G>T",
"hgvs_p": "p.Arg505Leu",
"transcript": "ENST00000636488.1",
"protein_id": "ENSP00000489955.1",
"transcript_support_level": 5,
"aa_start": 505,
"aa_end": null,
"aa_length": 520,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636488.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1511G>T",
"hgvs_p": "p.Arg504Leu",
"transcript": "NM_001394518.1",
"protein_id": "NP_001381447.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 519,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394518.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1511G>T",
"hgvs_p": "p.Arg504Leu",
"transcript": "NM_001394519.1",
"protein_id": "NP_001381448.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 519,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394519.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1499G>T",
"hgvs_p": "p.Arg500Leu",
"transcript": "NM_001326341.2",
"protein_id": "NP_001313270.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 515,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326341.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1499G>T",
"hgvs_p": "p.Arg500Leu",
"transcript": "NM_001394513.1",
"protein_id": "NP_001381442.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 515,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394513.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"hgvs_c": "c.1499G>T",
"hgvs_p": "p.Arg500Leu",
"transcript": "ENST00000904654.1",
"protein_id": "ENSP00000574713.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 515,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
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{
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{
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{
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],
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{
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],
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{
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],
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"exon_count": 2,
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"gene_symbol": "CELF2-AS1",
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{
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],
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"gene_symbol": "CELF2-AS1",
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"hgvs_c": "n.98-5337C>A",
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"transcript": "NR_126062.1",
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"biotype": "pseudogene",
"feature": "NR_126062.1"
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],
"gene_symbol": "CELF2",
"gene_hgnc_id": 2550,
"dbsnp": "rs2132785456",
"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": 0.8084061145782471,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.493,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9983,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PM5",
"PP3",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001326325.2",
"gene_symbol": "CELF2",
"hgnc_id": 2550,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1571G>T",
"hgvs_p": "p.Arg524Leu"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_126062.1",
"gene_symbol": "CELF2-AS1",
"hgnc_id": 23515,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.98-5337C>A",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}