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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: 1-19235151-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=19235151&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 19235151,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001375820.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Gly471Arg",
"transcript": "NM_015047.3",
"protein_id": "NP_055862.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 993,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000477853.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015047.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Gly471Arg",
"transcript": "ENST00000477853.6",
"protein_id": "ENSP00000420608.1",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 993,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015047.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477853.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1408G>C",
"hgvs_p": "p.Gly470Arg",
"transcript": "ENST00000375199.7",
"protein_id": "ENSP00000364345.3",
"transcript_support_level": 1,
"aa_start": 470,
"aa_end": null,
"aa_length": 992,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375199.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Gly471Arg",
"transcript": "ENST00000911107.1",
"protein_id": "ENSP00000581166.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1411,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911107.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Gly471Arg",
"transcript": "NM_001375820.1",
"protein_id": "NP_001362749.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 996,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375820.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Gly471Arg",
"transcript": "ENST00000486405.2",
"protein_id": "ENSP00000419345.2",
"transcript_support_level": 2,
"aa_start": 471,
"aa_end": null,
"aa_length": 996,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486405.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1408G>C",
"hgvs_p": "p.Gly470Arg",
"transcript": "NM_001375821.1",
"protein_id": "NP_001362750.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 995,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375821.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1408G>C",
"hgvs_p": "p.Gly470Arg",
"transcript": "NM_001271427.2",
"protein_id": "NP_001258356.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 992,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271427.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1408G>C",
"hgvs_p": "p.Gly470Arg",
"transcript": "NM_001271428.2",
"protein_id": "NP_001258357.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 992,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271428.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1408G>C",
"hgvs_p": "p.Gly470Arg",
"transcript": "ENST00000911103.1",
"protein_id": "ENSP00000581162.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 992,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911103.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Gly471Arg",
"transcript": "ENST00000933101.1",
"protein_id": "ENSP00000603160.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 992,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933101.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1405G>C",
"hgvs_p": "p.Gly469Arg",
"transcript": "ENST00000690823.1",
"protein_id": "ENSP00000509286.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 991,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690823.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1405G>C",
"hgvs_p": "p.Gly469Arg",
"transcript": "ENST00000911104.1",
"protein_id": "ENSP00000581163.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 991,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911104.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1408G>C",
"hgvs_p": "p.Gly470Arg",
"transcript": "ENST00000960183.1",
"protein_id": "ENSP00000630242.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 991,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960183.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1399G>C",
"hgvs_p": "p.Gly467Arg",
"transcript": "ENST00000933103.1",
"protein_id": "ENSP00000603162.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 989,
"cds_start": 1399,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933103.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1348G>C",
"hgvs_p": "p.Gly450Arg",
"transcript": "ENST00000960181.1",
"protein_id": "ENSP00000630240.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 972,
"cds_start": 1348,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960181.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1345G>C",
"hgvs_p": "p.Gly449Arg",
"transcript": "NM_001271429.2",
"protein_id": "NP_001258358.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 971,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271429.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1345G>C",
"hgvs_p": "p.Gly449Arg",
"transcript": "ENST00000375208.7",
"protein_id": "ENSP00000364354.3",
"transcript_support_level": 2,
"aa_start": 449,
"aa_end": null,
"aa_length": 971,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375208.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1345G>C",
"hgvs_p": "p.Gly449Arg",
"transcript": "ENST00000933105.1",
"protein_id": "ENSP00000603164.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 971,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933105.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Gly448Arg",
"transcript": "ENST00000960179.1",
"protein_id": "ENSP00000630238.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 970,
"cds_start": 1342,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960179.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Gly448Arg",
"transcript": "ENST00000960182.1",
"protein_id": "ENSP00000630241.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 970,
"cds_start": 1342,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960182.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.1408G>C",
"hgvs_p": "p.Gly470Arg",
"transcript": "ENST00000933106.1",
"protein_id": "ENSP00000603165.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 967,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000688332.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
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"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "n.*1175G>C",
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"transcript": "ENST00000692207.1",
"protein_id": "ENSP00000509071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000692207.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EMC1-AS1",
"gene_hgnc_id": 54050,
"hgvs_c": "n.231-5106C>G",
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"transcript": "ENST00000437898.4",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000437898.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EMC1-AS1",
"gene_hgnc_id": 54050,
"hgvs_c": "n.83-5106C>G",
"hgvs_p": null,
"transcript": "ENST00000842450.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000842450.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EMC1-AS1",
"gene_hgnc_id": 54050,
"hgvs_c": "n.175-5106C>G",
"hgvs_p": null,
"transcript": "NR_135114.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_135114.1"
}
],
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"dbsnp": "rs879253819",
"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": 0.7572054266929626,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.288,
"revel_prediction": "Benign",
"alphamissense_score": 0.947,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.358,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3,PP5",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM5",
"PP3",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001375820.1",
"gene_symbol": "EMC1",
"hgnc_id": 28957,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Gly471Arg"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000437898.4",
"gene_symbol": "EMC1-AS1",
"hgnc_id": 54050,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.231-5106C>G",
"hgvs_p": null
}
],
"clinvar_disease": " and psychomotor retardation, visual impairment,Cerebellar atrophy,not specified",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified|Cerebellar atrophy, visual impairment, and psychomotor retardation;",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}