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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: 2-27367157-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27367157&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27367157,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001318965.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.930G>A",
"hgvs_p": "p.Glu310Glu",
"transcript": "NM_001034116.2",
"protein_id": "NP_001029288.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 523,
"cds_start": 930,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000347454.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001034116.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.930G>A",
"hgvs_p": "p.Glu310Glu",
"transcript": "ENST00000347454.9",
"protein_id": "ENSP00000233552.6",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 523,
"cds_start": 930,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001034116.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347454.9"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Glu330Glu",
"transcript": "ENST00000451130.6",
"protein_id": "ENSP00000394869.2",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 543,
"cds_start": 990,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451130.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.927G>A",
"hgvs_p": "p.Glu309Glu",
"transcript": "ENST00000445933.6",
"protein_id": "ENSP00000394397.2",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 522,
"cds_start": 927,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445933.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "n.*196G>A",
"hgvs_p": null,
"transcript": "ENST00000405940.6",
"protein_id": "ENSP00000384375.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000405940.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "n.*196G>A",
"hgvs_p": null,
"transcript": "ENST00000405940.6",
"protein_id": "ENSP00000384375.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000405940.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.1011G>A",
"hgvs_p": "p.Glu337Glu",
"transcript": "ENST00000945158.1",
"protein_id": "ENSP00000615217.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 550,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945158.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.993G>A",
"hgvs_p": "p.Glu331Glu",
"transcript": "NM_001318965.2",
"protein_id": "NP_001305894.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 544,
"cds_start": 993,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318965.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.993G>A",
"hgvs_p": "p.Glu331Glu",
"transcript": "ENST00000493344.6",
"protein_id": "ENSP00000429323.1",
"transcript_support_level": 5,
"aa_start": 331,
"aa_end": null,
"aa_length": 544,
"cds_start": 993,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493344.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Glu330Glu",
"transcript": "NM_172195.4",
"protein_id": "NP_751945.2",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 543,
"cds_start": 990,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172195.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.966G>A",
"hgvs_p": "p.Glu322Glu",
"transcript": "ENST00000920939.1",
"protein_id": "ENSP00000590998.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 535,
"cds_start": 966,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920939.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.951G>A",
"hgvs_p": "p.Glu317Glu",
"transcript": "ENST00000945157.1",
"protein_id": "ENSP00000615216.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 530,
"cds_start": 951,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945157.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Glu316Glu",
"transcript": "ENST00000945155.1",
"protein_id": "ENSP00000615214.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 529,
"cds_start": 948,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945155.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.927G>A",
"hgvs_p": "p.Glu309Glu",
"transcript": "NM_015636.4",
"protein_id": "NP_056451.3",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 522,
"cds_start": 927,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015636.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.927G>A",
"hgvs_p": "p.Glu309Glu",
"transcript": "ENST00000920928.1",
"protein_id": "ENSP00000590987.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 522,
"cds_start": 927,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920928.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.927G>A",
"hgvs_p": "p.Glu309Glu",
"transcript": "ENST00000920929.1",
"protein_id": "ENSP00000590988.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 522,
"cds_start": 927,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920929.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.924G>A",
"hgvs_p": "p.Glu308Glu",
"transcript": "ENST00000920931.1",
"protein_id": "ENSP00000590990.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 521,
"cds_start": 924,
"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": "ENST00000920931.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.924G>A",
"hgvs_p": "p.Glu308Glu",
"transcript": "ENST00000945153.1",
"protein_id": "ENSP00000615212.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 521,
"cds_start": 924,
"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": "ENST00000945153.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.885G>A",
"hgvs_p": "p.Glu295Glu",
"transcript": "NM_001318966.2",
"protein_id": "NP_001305895.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 508,
"cds_start": 885,
"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": "NM_001318966.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.882G>A",
"hgvs_p": "p.Glu294Glu",
"transcript": "ENST00000945152.1",
"protein_id": "ENSP00000615211.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 507,
"cds_start": 882,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945152.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.837G>A",
"hgvs_p": "p.Glu279Glu",
"transcript": "NM_001318967.2",
"protein_id": "NP_001305896.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 492,
"cds_start": 837,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318967.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"hgvs_c": "c.837G>A",
"hgvs_p": "p.Glu279Glu",
"transcript": "ENST00000945151.1",
"protein_id": "ENSP00000615210.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 492,
"cds_start": 837,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "GTF3C2-AS2",
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"transcript": "NR_183827.1",
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_183827.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "GTF3C2-AS2",
"gene_hgnc_id": 55699,
"hgvs_c": "n.905-267C>T",
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"transcript": "NR_183831.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"biotype": "pseudogene",
"feature": "NR_183831.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "GTF3C2-AS2",
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"hgvs_c": "n.1887-267C>T",
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"transcript": "NR_183833.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "NR_183833.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "GTF3C2-AS2",
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"hgvs_c": "n.1807-267C>T",
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"transcript": "NR_183835.1",
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"biotype": "pseudogene",
"feature": "NR_183835.1"
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "GTF3C2-AS2",
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"hgvs_c": "n.247-267C>T",
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"transcript": "NR_183838.1",
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"biotype": "pseudogene",
"feature": "NR_183838.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "GTF3C2-AS2",
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"hgvs_c": "n.249-267C>T",
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"transcript": "NR_183839.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_183839.1"
}
],
"gene_symbol": "EIF2B4",
"gene_hgnc_id": 3260,
"dbsnp": "rs373520608",
"frequency_reference_population": 0.00012204143,
"hom_count_reference_population": 3,
"allele_count_reference_population": 197,
"gnomad_exomes_af": 0.000127233,
"gnomad_genomes_af": 0.0000722173,
"gnomad_exomes_ac": 186,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4000000059604645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.517,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"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": -18,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001318965.2",
"gene_symbol": "EIF2B4",
"hgnc_id": 3260,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.993G>A",
"hgvs_p": "p.Glu331Glu"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000412749.2",
"gene_symbol": "GTF3C2-AS2",
"hgnc_id": 55699,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.238-267C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}