← Back to variant description
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: 7-2572233-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2572233&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IQCE",
"hgnc_id": 29171,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.His101Asp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001287499.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.1068,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12074258923530579,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 695,
"aa_ref": "H",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6857,
"cdna_start": 504,
"cds_end": null,
"cds_length": 2088,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_152558.5",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.301C>G",
"hgvs_p": "p.His101Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000402050.7",
"protein_coding": true,
"protein_id": "NP_689771.3",
"strand": true,
"transcript": "NM_152558.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 695,
"aa_ref": "H",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6857,
"cdna_start": 504,
"cds_end": null,
"cds_length": 2088,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000402050.7",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.301C>G",
"hgvs_p": "p.His101Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152558.5",
"protein_coding": true,
"protein_id": "ENSP00000385597.2",
"strand": true,
"transcript": "ENST00000402050.7",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 630,
"aa_ref": "H",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6775,
"cdna_start": 417,
"cds_end": null,
"cds_length": 1893,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000623361.3",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.His36Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485601.1",
"strand": true,
"transcript": "ENST00000623361.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2235,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000325997.13",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "n.*78C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000314011.10",
"strand": true,
"transcript": "ENST00000325997.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2251,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000470731.5",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "n.435C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000470731.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2235,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000325997.13",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "n.*78C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000314011.10",
"strand": true,
"transcript": "ENST00000325997.13",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 721,
"aa_ref": "H",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3016,
"cdna_start": 422,
"cds_end": null,
"cds_length": 2166,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000949542.1",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.301C>G",
"hgvs_p": "p.His101Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619601.1",
"strand": true,
"transcript": "ENST00000949542.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 702,
"aa_ref": "H",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 504,
"cds_end": null,
"cds_length": 2109,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001287499.2",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.301C>G",
"hgvs_p": "p.His101Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274428.1",
"strand": true,
"transcript": "NM_001287499.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 702,
"aa_ref": "H",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": 404,
"cds_end": null,
"cds_length": 2109,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000476665.5",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.301C>G",
"hgvs_p": "p.His101Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480715.1",
"strand": true,
"transcript": "ENST00000476665.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 686,
"aa_ref": "H",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2452,
"cdna_start": 456,
"cds_end": null,
"cds_length": 2061,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001287500.2",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.His85Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274429.1",
"strand": true,
"transcript": "NM_001287500.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 686,
"aa_ref": "H",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": 286,
"cds_end": null,
"cds_length": 2061,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000611775.4",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.His85Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480668.1",
"strand": true,
"transcript": "ENST00000611775.4",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 679,
"aa_ref": "H",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6809,
"cdna_start": 456,
"cds_end": null,
"cds_length": 2040,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001410865.1",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.His85Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397794.1",
"strand": true,
"transcript": "NM_001410865.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 679,
"aa_ref": "H",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 383,
"cds_end": null,
"cds_length": 2040,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000438376.6",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.253C>G",
"hgvs_p": "p.His85Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396178.2",
"strand": true,
"transcript": "ENST00000438376.6",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 658,
"aa_ref": "H",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2952,
"cdna_start": 504,
"cds_end": null,
"cds_length": 1977,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000910211.1",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.301C>G",
"hgvs_p": "p.His101Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580270.1",
"strand": true,
"transcript": "ENST00000910211.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 637,
"aa_ref": "H",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 410,
"cds_end": null,
"cds_length": 1914,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001287502.2",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.His36Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274431.1",
"strand": true,
"transcript": "NM_001287502.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 630,
"aa_ref": "H",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6763,
"cdna_start": 410,
"cds_end": null,
"cds_length": 1893,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001287501.2",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.His36Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274430.1",
"strand": true,
"transcript": "NM_001287501.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 630,
"aa_ref": "H",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2179,
"cdna_start": 392,
"cds_end": null,
"cds_length": 1893,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000325979.11",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.His36Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313772.7",
"strand": true,
"transcript": "ENST00000325979.11",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 245,
"aa_ref": "H",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 899,
"cdna_start": 462,
"cds_end": null,
"cds_length": 738,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000415271.6",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.301C>G",
"hgvs_p": "p.His101Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404643.1",
"strand": true,
"transcript": "ENST00000415271.6",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 127,
"aa_ref": "H",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 541,
"cdna_start": 263,
"cds_end": null,
"cds_length": 384,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000422276.3",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.His36Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402108.3",
"strand": true,
"transcript": "ENST00000422276.3",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 127,
"aa_ref": "H",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 543,
"cdna_start": 265,
"cds_end": null,
"cds_length": 384,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000423395.5",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.His36Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413570.1",
"strand": true,
"transcript": "ENST00000423395.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 709,
"aa_ref": "H",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": 595,
"cds_end": null,
"cds_length": 2130,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047420081.1",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.322C>G",
"hgvs_p": "p.His108Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276037.1",
"strand": true,
"transcript": "XM_047420081.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 702,
"aa_ref": "H",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6948,
"cdna_start": 595,
"cds_end": null,
"cds_length": 2109,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017011902.2",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.322C>G",
"hgvs_p": "p.His108Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867391.1",
"strand": true,
"transcript": "XM_017011902.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 637,
"aa_ref": "H",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 277,
"cds_end": null,
"cds_length": 1914,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006715676.3",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.His36Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715739.1",
"strand": true,
"transcript": "XM_006715676.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 637,
"aa_ref": "H",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2367,
"cdna_start": 371,
"cds_end": null,
"cds_length": 1914,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047420084.1",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.His36Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276040.1",
"strand": true,
"transcript": "XM_047420084.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 630,
"aa_ref": "H",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6724,
"cdna_start": 371,
"cds_end": null,
"cds_length": 1893,
"cds_start": 106,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017011903.2",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.106C>G",
"hgvs_p": "p.His36Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867392.1",
"strand": true,
"transcript": "XM_017011903.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 657,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2365,
"cdna_start": null,
"cds_end": null,
"cds_length": 1974,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011515242.2",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.259+579C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513544.1",
"strand": true,
"transcript": "XM_011515242.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 641,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2317,
"cdna_start": null,
"cds_end": null,
"cds_length": 1926,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047420083.1",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.211+579C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276039.1",
"strand": true,
"transcript": "XM_047420083.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 557,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2142,
"cdna_start": null,
"cds_end": null,
"cds_length": 1674,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024446699.2",
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"hgvs_c": "c.-41-1185C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024302467.1",
"strand": true,
"transcript": "XM_024446699.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs11976972",
"effect": "missense_variant",
"frequency_reference_population": 0.000002478281,
"gene_hgnc_id": 29171,
"gene_symbol": "IQCE",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84081e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197101,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.78,
"pos": 2572233,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.043,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001287499.2"
}
]
}