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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: 7-2572256-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2572256&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 2572256,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001287499.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Gly108Gly",
"transcript": "NM_152558.5",
"protein_id": "NP_689771.3",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 695,
"cds_start": 324,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000402050.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152558.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Gly108Gly",
"transcript": "ENST00000402050.7",
"protein_id": "ENSP00000385597.2",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 695,
"cds_start": 324,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152558.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402050.7"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.129C>T",
"hgvs_p": "p.Gly43Gly",
"transcript": "ENST00000623361.3",
"protein_id": "ENSP00000485601.1",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 630,
"cds_start": 129,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623361.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "n.*101C>T",
"hgvs_p": null,
"transcript": "ENST00000325997.13",
"protein_id": "ENSP00000314011.10",
"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": "ENST00000325997.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "n.458C>T",
"hgvs_p": null,
"transcript": "ENST00000470731.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000470731.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "n.*101C>T",
"hgvs_p": null,
"transcript": "ENST00000325997.13",
"protein_id": "ENSP00000314011.10",
"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": "ENST00000325997.13"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Gly108Gly",
"transcript": "ENST00000949542.1",
"protein_id": "ENSP00000619601.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 721,
"cds_start": 324,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949542.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Gly108Gly",
"transcript": "NM_001287499.2",
"protein_id": "NP_001274428.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 702,
"cds_start": 324,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287499.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Gly108Gly",
"transcript": "ENST00000476665.5",
"protein_id": "ENSP00000480715.1",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 702,
"cds_start": 324,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476665.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Gly92Gly",
"transcript": "NM_001287500.2",
"protein_id": "NP_001274429.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 686,
"cds_start": 276,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287500.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Gly92Gly",
"transcript": "ENST00000611775.4",
"protein_id": "ENSP00000480668.1",
"transcript_support_level": 2,
"aa_start": 92,
"aa_end": null,
"aa_length": 686,
"cds_start": 276,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611775.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Gly92Gly",
"transcript": "NM_001410865.1",
"protein_id": "NP_001397794.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 679,
"cds_start": 276,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410865.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Gly92Gly",
"transcript": "ENST00000438376.6",
"protein_id": "ENSP00000396178.2",
"transcript_support_level": 5,
"aa_start": 92,
"aa_end": null,
"aa_length": 679,
"cds_start": 276,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438376.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Gly108Gly",
"transcript": "ENST00000910211.1",
"protein_id": "ENSP00000580270.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 658,
"cds_start": 324,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910211.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.129C>T",
"hgvs_p": "p.Gly43Gly",
"transcript": "NM_001287502.2",
"protein_id": "NP_001274431.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 637,
"cds_start": 129,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287502.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.129C>T",
"hgvs_p": "p.Gly43Gly",
"transcript": "NM_001287501.2",
"protein_id": "NP_001274430.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 630,
"cds_start": 129,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287501.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.129C>T",
"hgvs_p": "p.Gly43Gly",
"transcript": "ENST00000325979.11",
"protein_id": "ENSP00000313772.7",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 630,
"cds_start": 129,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325979.11"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Gly108Gly",
"transcript": "ENST00000415271.6",
"protein_id": "ENSP00000404643.1",
"transcript_support_level": 5,
"aa_start": 108,
"aa_end": null,
"aa_length": 245,
"cds_start": 324,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415271.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.129C>T",
"hgvs_p": "p.Gly43Gly",
"transcript": "ENST00000422276.3",
"protein_id": "ENSP00000402108.3",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 127,
"cds_start": 129,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422276.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.129C>T",
"hgvs_p": "p.Gly43Gly",
"transcript": "ENST00000423395.5",
"protein_id": "ENSP00000413570.1",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 127,
"cds_start": 129,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423395.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.345C>T",
"hgvs_p": "p.Gly115Gly",
"transcript": "XM_047420081.1",
"protein_id": "XP_047276037.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 709,
"cds_start": 345,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420081.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCE",
"gene_hgnc_id": 29171,
"hgvs_c": "c.345C>T",
"hgvs_p": "p.Gly115Gly",
"transcript": "XM_017011902.2",
"protein_id": "XP_016867391.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 702,
"cds_start": 345,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011902.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
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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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"dbsnp": "rs61736333",
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"hom_count_reference_population": 118,
"allele_count_reference_population": 4545,
"gnomad_exomes_af": 0.00152008,
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"computational_score_selected": -0.4399999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
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"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.644,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001287499.2",
"gene_symbol": "IQCE",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.324C>T",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}