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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: 14-52652285-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=52652285&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 52652285,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001382464.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.1079A>G",
"hgvs_p": "p.Glu360Gly",
"transcript": "NM_014584.3",
"protein_id": "NP_055399.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 468,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395686.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014584.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.1079A>G",
"hgvs_p": "p.Glu360Gly",
"transcript": "ENST00000395686.8",
"protein_id": "ENSP00000379042.3",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 468,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014584.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395686.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.1118A>G",
"hgvs_p": "p.Glu373Gly",
"transcript": "NM_001382464.1",
"protein_id": "NP_001369393.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 481,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382464.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.1118A>G",
"hgvs_p": "p.Glu373Gly",
"transcript": "ENST00000964628.1",
"protein_id": "ENSP00000634687.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 481,
"cds_start": 1118,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964628.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Glu356Gly",
"transcript": "NM_001382465.1",
"protein_id": "NP_001369394.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 464,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382465.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Glu356Gly",
"transcript": "NM_001382466.1",
"protein_id": "NP_001369395.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 464,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382466.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Glu356Gly",
"transcript": "ENST00000910737.1",
"protein_id": "ENSP00000580796.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 464,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910737.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.1067A>G",
"hgvs_p": "p.Glu356Gly",
"transcript": "ENST00000964630.1",
"protein_id": "ENSP00000634689.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 464,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964630.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Glu351Gly",
"transcript": "NM_001382467.1",
"protein_id": "NP_001369396.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 459,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382467.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.1040A>G",
"hgvs_p": "p.Glu347Gly",
"transcript": "NM_001382468.1",
"protein_id": "NP_001369397.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 455,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382468.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.1028A>G",
"hgvs_p": "p.Glu343Gly",
"transcript": "NM_001382469.1",
"protein_id": "NP_001369398.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 451,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382469.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.1004A>G",
"hgvs_p": "p.Glu335Gly",
"transcript": "NM_001382470.1",
"protein_id": "NP_001369399.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 443,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382470.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.992A>G",
"hgvs_p": "p.Glu331Gly",
"transcript": "NM_001382471.1",
"protein_id": "NP_001369400.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 439,
"cds_start": 992,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382471.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.968A>G",
"hgvs_p": "p.Glu323Gly",
"transcript": "NM_001382472.1",
"protein_id": "NP_001369401.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 431,
"cds_start": 968,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382472.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.959A>G",
"hgvs_p": "p.Glu320Gly",
"transcript": "NM_001382473.1",
"protein_id": "NP_001369402.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 428,
"cds_start": 959,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382473.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.947A>G",
"hgvs_p": "p.Glu316Gly",
"transcript": "ENST00000964629.1",
"protein_id": "ENSP00000634688.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 424,
"cds_start": 947,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964629.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.875A>G",
"hgvs_p": "p.Glu292Gly",
"transcript": "NM_001382474.1",
"protein_id": "NP_001369403.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 400,
"cds_start": 875,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382474.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.839A>G",
"hgvs_p": "p.Glu280Gly",
"transcript": "NM_001382475.1",
"protein_id": "NP_001369404.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 388,
"cds_start": 839,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382475.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.824A>G",
"hgvs_p": "p.Glu275Gly",
"transcript": "NM_001382476.1",
"protein_id": "NP_001369405.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 383,
"cds_start": 824,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382476.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.824A>G",
"hgvs_p": "p.Glu275Gly",
"transcript": "ENST00000910738.1",
"protein_id": "ENSP00000580797.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 383,
"cds_start": 824,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910738.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Glu19Gly",
"transcript": "ENST00000556358.5",
"protein_id": "ENSP00000450655.1",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 74,
"cds_start": 56,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556358.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "n.*303A>G",
"hgvs_p": null,
"transcript": "ENST00000554019.5",
"protein_id": "ENSP00000451204.1",
"transcript_support_level": 5,
"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": "ENST00000554019.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "n.*303A>G",
"hgvs_p": null,
"transcript": "ENST00000556039.5",
"protein_id": "ENSP00000452020.1",
"transcript_support_level": 5,
"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": "ENST00000556039.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "n.805A>G",
"hgvs_p": null,
"transcript": "ENST00000556769.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000556769.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "n.*303A>G",
"hgvs_p": null,
"transcript": "ENST00000554019.5",
"protein_id": "ENSP00000451204.1",
"transcript_support_level": 5,
"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": "ENST00000554019.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"hgvs_c": "n.*303A>G",
"hgvs_p": null,
"transcript": "ENST00000556039.5",
"protein_id": "ENSP00000452020.1",
"transcript_support_level": 5,
"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": "ENST00000556039.5"
}
],
"gene_symbol": "ERO1A",
"gene_hgnc_id": 13280,
"dbsnp": "rs1455494464",
"frequency_reference_population": 0.0000043449063,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000342733,
"gnomad_genomes_af": 0.0000131389,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9853326678276062,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.751,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8921,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.245,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001382464.1",
"gene_symbol": "ERO1A",
"hgnc_id": 13280,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1118A>G",
"hgvs_p": "p.Glu373Gly"
}
],
"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
}