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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: 4-15563485-CGA-GGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=15563485&ref=CGA&alt=GGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CC2D2A",
"hgnc_id": 29253,
"hgvs_c": "c.3145_3147delCGAinsGGT",
"hgvs_p": "p.Arg1049Gly",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001080522.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "LOC124900671",
"hgnc_id": null,
"hgvs_c": "n.*211_*213delTCGinsACC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "XR_007058061.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "ENSG00000273133",
"hgnc_id": 58738,
"hgvs_c": "n.*211_*213delTCGinsACC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000609724.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1,PP3",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1620,
"aa_ref": "R",
"aa_start": 1049,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5184,
"cdna_start": 3339,
"cds_end": null,
"cds_length": 4863,
"cds_start": 3145,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378615.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3145_3147delCGAinsGGT",
"hgvs_p": "p.Arg1049Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000424120.6",
"protein_coding": true,
"protein_id": "NP_001365544.1",
"strand": true,
"transcript": "NM_001378615.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1620,
"aa_ref": "R",
"aa_start": 1049,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5184,
"cdna_start": 3339,
"cds_end": null,
"cds_length": 4863,
"cds_start": 3145,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424120.6",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3145_3147delCGAinsGGT",
"hgvs_p": "p.Arg1049Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378615.1",
"protein_coding": true,
"protein_id": "ENSP00000403465.1",
"strand": true,
"transcript": "ENST00000424120.6",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1620,
"aa_ref": "R",
"aa_start": 1049,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5226,
"cdna_start": 3384,
"cds_end": null,
"cds_length": 4863,
"cds_start": 3145,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000503292.6",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3145_3147delCGAinsGGT",
"hgvs_p": "p.Arg1049Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421809.1",
"strand": true,
"transcript": "ENST00000503292.6",
"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": 4784,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000634028.2",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.2998_3000delCGAinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000488669.2",
"strand": true,
"transcript": "ENST00000634028.2",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1632,
"aa_ref": "R",
"aa_start": 1054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5044,
"cdna_start": 3178,
"cds_end": null,
"cds_length": 4899,
"cds_start": 3160,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000389652.11",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3160_3162delCGAinsGGT",
"hgvs_p": "p.Arg1054Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000374303.8",
"strand": true,
"transcript": "ENST00000389652.11",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "R",
"aa_start": 1049,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5193,
"cdna_start": 3334,
"cds_end": null,
"cds_length": 4884,
"cds_start": 3145,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951218.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3145_3147delCGAinsGGT",
"hgvs_p": "p.Arg1049Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621277.1",
"strand": true,
"transcript": "ENST00000951218.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1620,
"aa_ref": "R",
"aa_start": 1049,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": 3390,
"cds_end": null,
"cds_length": 4863,
"cds_start": 3145,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001080522.2",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3145_3147delCGAinsGGT",
"hgvs_p": "p.Arg1049Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073991.2",
"strand": true,
"transcript": "NM_001080522.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1620,
"aa_ref": "R",
"aa_start": 1049,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5706,
"cdna_start": 3316,
"cds_end": null,
"cds_length": 4863,
"cds_start": 3145,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860661.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3145_3147delCGAinsGGT",
"hgvs_p": "p.Arg1049Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530720.1",
"strand": true,
"transcript": "ENST00000860661.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "R",
"aa_start": 1046,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5157,
"cdna_start": 3315,
"cds_end": null,
"cds_length": 4854,
"cds_start": 3136,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951219.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3136_3138delCGAinsGGT",
"hgvs_p": "p.Arg1046Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621278.1",
"strand": true,
"transcript": "ENST00000951219.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1573,
"aa_ref": "R",
"aa_start": 1002,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5042,
"cdna_start": 3203,
"cds_end": null,
"cds_length": 4722,
"cds_start": 3004,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000860662.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.3004_3006delCGAinsGGT",
"hgvs_p": "p.Arg1002Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530721.1",
"strand": true,
"transcript": "ENST00000860662.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1571,
"aa_ref": "R",
"aa_start": 1000,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4984,
"cdna_start": 3139,
"cds_end": null,
"cds_length": 4716,
"cds_start": 2998,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378617.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.2998_3000delCGAinsGGT",
"hgvs_p": "p.Arg1000Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365546.1",
"strand": true,
"transcript": "NM_001378617.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1571,
"aa_ref": "R",
"aa_start": 1000,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4989,
"cdna_start": 3147,
"cds_end": null,
"cds_length": 4716,
"cds_start": 2998,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000506643.5",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.2998_3000delCGAinsGGT",
"hgvs_p": "p.Arg1000Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422931.2",
"strand": true,
"transcript": "ENST00000506643.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1512,
"aa_ref": "R",
"aa_start": 1000,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4809,
"cdna_start": 3147,
"cds_end": null,
"cds_length": 4539,
"cds_start": 2998,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674945.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.2998_3000delCGAinsGGT",
"hgvs_p": "p.Arg1000Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502333.1",
"strand": true,
"transcript": "ENST00000674945.1",
"transcript_support_level": null
},
{
"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": 5513,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 36,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000650860.2",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.*151_*153delCGAinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498775.1",
"strand": true,
"transcript": "ENST00000650860.2",
"transcript_support_level": null
},
{
"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": 4929,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000675619.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.3956_3958delCGAinsGGT",
"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": "ENST00000675619.1",
"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": 2447,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000675768.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.365_367delCGAinsGGT",
"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": "ENST00000675768.1",
"transcript_support_level": null
},
{
"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": 4588,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000676337.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.*151_*153delCGAinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501728.1",
"strand": true,
"transcript": "ENST00000676337.1",
"transcript_support_level": null
},
{
"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": 6514,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000680586.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.3804_3806delCGAinsGGT",
"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": "ENST00000680586.1",
"transcript_support_level": null
},
{
"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": 5513,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 36,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000650860.2",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.*151_*153delCGAinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498775.1",
"strand": true,
"transcript": "ENST00000650860.2",
"transcript_support_level": null
},
{
"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": 4588,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 30,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000676337.1",
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