← 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: 17-79046661-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=79046661&ref=G&alt=A&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": "C1QTNF1",
"hgnc_id": 14324,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_030968.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 36,
"alphamissense_prediction": null,
"alphamissense_score": 0.0693,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07152712345123291,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 602,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_030968.5",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000579760.6",
"protein_coding": true,
"protein_id": "NP_112230.1",
"strand": true,
"transcript": "NM_030968.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 602,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000579760.6",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030968.5",
"protein_coding": true,
"protein_id": "ENSP00000463922.1",
"strand": true,
"transcript": "ENST00000579760.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1600,
"cdna_start": 638,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000580474.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463108.1",
"strand": true,
"transcript": "ENST00000580474.1",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1368,
"cdna_start": 625,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000581774.5",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462481.2",
"strand": true,
"transcript": "ENST00000581774.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 431,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_153372.3",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_699203.1",
"strand": true,
"transcript": "NM_153372.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2795,
"cdna_start": 511,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_198593.4",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_940995.1",
"strand": true,
"transcript": "NM_198593.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3100,
"cdna_start": 817,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000339142.6",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340864.2",
"strand": true,
"transcript": "ENST00000339142.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2714,
"cdna_start": 431,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000354124.7",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343230.4",
"strand": true,
"transcript": "ENST00000354124.7",
"transcript_support_level": 4
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 549,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000392445.6",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376240.2",
"strand": true,
"transcript": "ENST00000392445.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1396,
"cdna_start": 653,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000580454.5",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462990.1",
"strand": true,
"transcript": "ENST00000580454.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1129,
"cdna_start": 386,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000583904.5",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463008.1",
"strand": true,
"transcript": "ENST00000583904.5",
"transcript_support_level": 4
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3137,
"cdna_start": 853,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000885300.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555359.1",
"strand": true,
"transcript": "ENST00000885300.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3175,
"cdna_start": 891,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000885301.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555360.1",
"strand": true,
"transcript": "ENST00000885301.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2991,
"cdna_start": 707,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000885302.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555361.1",
"strand": true,
"transcript": "ENST00000885302.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3213,
"cdna_start": 931,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000885303.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555362.1",
"strand": true,
"transcript": "ENST00000885303.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3297,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000885304.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555363.1",
"strand": true,
"transcript": "ENST00000885304.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3035,
"cdna_start": 751,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000885305.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555364.1",
"strand": true,
"transcript": "ENST00000885305.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 715,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000885306.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555365.1",
"strand": true,
"transcript": "ENST00000885306.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 356,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000885307.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555366.1",
"strand": true,
"transcript": "ENST00000885307.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 549,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000885308.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555367.1",
"strand": true,
"transcript": "ENST00000885308.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 983,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951174.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621233.1",
"strand": true,
"transcript": "ENST00000951174.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000951175.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621234.1",
"strand": true,
"transcript": "ENST00000951175.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 598,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000951176.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621235.1",
"strand": true,
"transcript": "ENST00000951176.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3353,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951177.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621236.1",
"strand": true,
"transcript": "ENST00000951177.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 552,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000951178.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621237.1",
"strand": true,
"transcript": "ENST00000951178.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": 427,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000951179.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621238.1",
"strand": true,
"transcript": "ENST00000951179.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3226,
"cdna_start": 943,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000951180.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621239.1",
"strand": true,
"transcript": "ENST00000951180.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3009,
"cdna_start": 725,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951181.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621240.1",
"strand": true,
"transcript": "ENST00000951181.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3066,
"cdna_start": 783,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951182.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621241.1",
"strand": true,
"transcript": "ENST00000951182.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 550,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951183.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621242.1",
"strand": true,
"transcript": "ENST00000951183.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000951184.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621243.1",
"strand": true,
"transcript": "ENST00000951184.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2717,
"cdna_start": 433,
"cds_end": null,
"cds_length": 600,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_198594.4",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_940996.1",
"strand": true,
"transcript": "NM_198594.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": 341,
"cds_end": null,
"cds_length": 600,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000311661.4",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311265.4",
"strand": true,
"transcript": "ENST00000311661.4",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1294,
"cdna_start": 551,
"cds_end": null,
"cds_length": 600,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000578229.5",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463337.1",
"strand": true,
"transcript": "ENST00000578229.5",
"transcript_support_level": 4
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 379,
"aa_ref": "A",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": 556,
"cds_end": null,
"cds_length": 1140,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_006721663.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Ala186Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721726.1",
"strand": true,
"transcript": "XM_006721663.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 330,
"aa_ref": "A",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 993,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006721664.2",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Ala137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721727.1",
"strand": true,
"transcript": "XM_006721664.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 291,
"aa_ref": "A",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 714,
"cds_end": null,
"cds_length": 876,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006721666.2",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Ala98Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721729.1",
"strand": true,
"transcript": "XM_006721666.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 291,
"aa_ref": "A",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3379,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 876,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047435295.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Ala98Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291251.1",
"strand": true,
"transcript": "XM_047435295.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 291,
"aa_ref": "A",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 876,
"cds_start": 292,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047435296.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Ala98Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291252.1",
"strand": true,
"transcript": "XM_047435296.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3270,
"cdna_start": 986,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_024450561.2",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306329.1",
"strand": true,
"transcript": "XM_024450561.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3977,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 846,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047435297.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Ala88Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291253.1",
"strand": true,
"transcript": "XM_047435297.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 199,
"aa_ref": "A",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3084,
"cdna_start": 800,
"cds_end": null,
"cds_length": 600,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017024126.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879615.1",
"strand": true,
"transcript": "XM_017024126.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2871,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_049769.3",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "n.587G>A",
"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": "NR_049769.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1088,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000582625.1",
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"hgvs_c": "n.-240G>A",
"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": "ENST00000582625.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs758961252",
"effect": "missense_variant",
"frequency_reference_population": 0.000022303424,
"gene_hgnc_id": 14324,
"gene_symbol": "C1QTNF1",
"gnomad_exomes_ac": 29,
"gnomad_exomes_af": 0.0000198381,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 7,
"gnomad_genomes_af": 0.0000459716,
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.32,
"pos": 79046661,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.115,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_030968.5"
}
]
}