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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: 13-24885666-AT-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=24885666&ref=AT&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CPAP",
"hgnc_id": 17272,
"hgvs_c": "c.3305_3306delATinsTA",
"hgvs_p": "p.Asn1102Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_018451.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "RNF17",
"hgnc_id": 10060,
"hgvs_c": "c.*11-2448_*11-2447delATinsTA",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "XM_011535156.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "13",
"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": "I",
"aa_end": null,
"aa_length": 1338,
"aa_ref": "N",
"aa_start": 1102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5082,
"cdna_start": 3473,
"cds_end": null,
"cds_length": 4017,
"cds_start": 3305,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_018451.5",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "c.3305_3306delATinsTA",
"hgvs_p": "p.Asn1102Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381884.9",
"protein_coding": true,
"protein_id": "NP_060921.3",
"strand": false,
"transcript": "NM_018451.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1338,
"aa_ref": "N",
"aa_start": 1102,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5082,
"cdna_start": 3473,
"cds_end": null,
"cds_length": 4017,
"cds_start": 3305,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381884.9",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "c.3305_3306delATinsTA",
"hgvs_p": "p.Asn1102Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018451.5",
"protein_coding": true,
"protein_id": "ENSP00000371308.4",
"strand": false,
"transcript": "ENST00000381884.9",
"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": 5020,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000616936.4",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "n.3220_3221delATinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000477511.1",
"strand": false,
"transcript": "ENST00000616936.4",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1365,
"aa_ref": "N",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4403,
"cdna_start": 3554,
"cds_end": null,
"cds_length": 4098,
"cds_start": 3386,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926443.1",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "c.3386_3387delATinsTA",
"hgvs_p": "p.Asn1129Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596502.1",
"strand": false,
"transcript": "ENST00000926443.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1338,
"aa_ref": "N",
"aa_start": 1102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4334,
"cdna_start": 3488,
"cds_end": null,
"cds_length": 4017,
"cds_start": 3305,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926448.1",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "c.3305_3306delATinsTA",
"hgvs_p": "p.Asn1102Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596507.1",
"strand": false,
"transcript": "ENST00000926448.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "N",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4196,
"cdna_start": 3348,
"cds_end": null,
"cds_length": 3993,
"cds_start": 3281,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000868792.1",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "c.3281_3282delATinsTA",
"hgvs_p": "p.Asn1094Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538851.1",
"strand": false,
"transcript": "ENST00000868792.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1326,
"aa_ref": "N",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4248,
"cdna_start": 3402,
"cds_end": null,
"cds_length": 3981,
"cds_start": 3269,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926447.1",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "c.3269_3270delATinsTA",
"hgvs_p": "p.Asn1090Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596506.1",
"strand": false,
"transcript": "ENST00000926447.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1312,
"aa_ref": "N",
"aa_start": 1102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4254,
"cdna_start": 3477,
"cds_end": null,
"cds_length": 3939,
"cds_start": 3305,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926441.1",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "c.3305_3306delATinsTA",
"hgvs_p": "p.Asn1102Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596500.1",
"strand": false,
"transcript": "ENST00000926441.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1308,
"aa_ref": "N",
"aa_start": 1098,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4214,
"cdna_start": 3440,
"cds_end": null,
"cds_length": 3927,
"cds_start": 3293,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926445.1",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "c.3293_3294delATinsTA",
"hgvs_p": "p.Asn1098Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596504.1",
"strand": false,
"transcript": "ENST00000926445.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1301,
"aa_ref": "N",
"aa_start": 1102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 3453,
"cds_end": null,
"cds_length": 3906,
"cds_start": 3305,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926446.1",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "c.3305_3306delATinsTA",
"hgvs_p": "p.Asn1102Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596505.1",
"strand": false,
"transcript": "ENST00000926446.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1271,
"aa_ref": "N",
"aa_start": 1098,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4106,
"cdna_start": 3446,
"cds_end": null,
"cds_length": 3816,
"cds_start": 3293,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926444.1",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "c.3293_3294delATinsTA",
"hgvs_p": "p.Asn1098Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596503.1",
"strand": false,
"transcript": "ENST00000926444.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1254,
"aa_ref": "N",
"aa_start": 1102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4073,
"cdna_start": 3476,
"cds_end": null,
"cds_length": 3765,
"cds_start": 3305,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926442.1",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "c.3305_3306delATinsTA",
"hgvs_p": "p.Asn1102Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596501.1",
"strand": false,
"transcript": "ENST00000926442.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1237,
"aa_ref": "N",
"aa_start": 1027,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4718,
"cdna_start": 3184,
"cds_end": null,
"cds_length": 3714,
"cds_start": 3080,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926440.1",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "c.3080_3081delATinsTA",
"hgvs_p": "p.Asn1027Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596499.1",
"strand": false,
"transcript": "ENST00000926440.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1338,
"aa_ref": "N",
"aa_start": 1102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5586,
"cdna_start": 3977,
"cds_end": null,
"cds_length": 4017,
"cds_start": 3305,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430483.1",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "c.3305_3306delATinsTA",
"hgvs_p": "p.Asn1102Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286439.1",
"strand": false,
"transcript": "XM_047430483.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1136,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3685,
"cdna_start": null,
"cds_end": null,
"cds_length": 3411,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011535149.3",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "c.*46_*47delATinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533451.1",
"strand": false,
"transcript": "XM_011535149.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1699,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7331,
"cdna_start": null,
"cds_end": null,
"cds_length": 5100,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011535156.3",
"gene_hgnc_id": 10060,
"gene_symbol": "RNF17",
"hgvs_c": "c.*11-2448_*11-2447delATinsTA",
"hgvs_p": null,
"intron_rank": 40,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533458.1",
"strand": true,
"transcript": "XM_011535156.3",
"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": 501,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000471870.1",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "n.195_196delATinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000471870.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 571,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000493190.1",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "n.413_414delATinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000493190.1",
"transcript_support_level": 3
},
{
"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": 4298,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000545981.6",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "n.*45_*46delATinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000441090.2",
"strand": false,
"transcript": "ENST00000545981.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5199,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NR_047594.2",
"gene_hgnc_id": 17272,
"gene_symbol": "CPAP",
"hgvs_c": "n.3589_3590delATinsTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_047594.2",
"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": 4997,
"cdna_start": null,
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}