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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: 1-155688300-T-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155688300&ref=T&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155688300,
"ref": "T",
"alt": "TC",
"effect": "frameshift_variant",
"transcript": "NM_001198903.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.164dupG",
"hgvs_p": "p.Gly56fs",
"transcript": "ENST00000368340.10",
"protein_id": "ENSP00000357324.5",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 868,
"cds_start": 164,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368340.10"
},
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.164dupG",
"hgvs_p": "p.Gly56fs",
"transcript": "ENST00000405763.7",
"protein_id": "ENSP00000384583.3",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 495,
"cds_start": 164,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405763.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.-151-100dupG",
"hgvs_p": null,
"transcript": "NM_139119.3",
"protein_id": "NP_620830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": null,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355499.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139119.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.-151-100dupG",
"hgvs_p": null,
"transcript": "ENST00000355499.9",
"protein_id": "ENSP00000347686.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": null,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139119.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355499.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.-21+358dupG",
"hgvs_p": null,
"transcript": "ENST00000347088.9",
"protein_id": "ENSP00000316079.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": null,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347088.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.-21+629dupG",
"hgvs_p": null,
"transcript": "ENST00000368330.6",
"protein_id": "ENSP00000357314.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": null,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368330.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.-143-100dupG",
"hgvs_p": null,
"transcript": "ENST00000359205.9",
"protein_id": "ENSP00000352134.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": null,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359205.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.-265-100dupG",
"hgvs_p": null,
"transcript": "ENST00000361831.9",
"protein_id": "ENSP00000355298.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": null,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361831.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.-151-100dupG",
"hgvs_p": null,
"transcript": "ENST00000404643.5",
"protein_id": "ENSP00000385390.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": null,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404643.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "n.-151-100dupG",
"hgvs_p": null,
"transcript": "ENST00000361140.8",
"protein_id": "ENSP00000354716.4",
"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": "ENST00000361140.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "n.-21+629dupG",
"hgvs_p": null,
"transcript": "ENST00000436865.5",
"protein_id": "ENSP00000390116.1",
"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": "ENST00000436865.5"
},
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.164dupG",
"hgvs_p": "p.Gly56fs",
"transcript": "NM_001198903.1",
"protein_id": "NP_001185832.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 888,
"cds_start": 164,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198903.1"
},
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.164dupG",
"hgvs_p": "p.Gly56fs",
"transcript": "ENST00000368339.10",
"protein_id": "ENSP00000357323.5",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 888,
"cds_start": 164,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368339.10"
},
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.164dupG",
"hgvs_p": "p.Gly56fs",
"transcript": "NM_001198904.1",
"protein_id": "NP_001185833.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 868,
"cds_start": 164,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198904.1"
},
{
"aa_ref": "R",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.164dupG",
"hgvs_p": "p.Gly56fs",
"transcript": "ENST00000715144.1",
"protein_id": "ENSP00000520345.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 496,
"cds_start": 164,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715144.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.-246dupG",
"hgvs_p": null,
"transcript": "ENST00000879245.1",
"protein_id": "ENSP00000549304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 750,
"cds_start": null,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879245.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.-251dupG",
"hgvs_p": null,
"transcript": "ENST00000972550.1",
"protein_id": "ENSP00000642609.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"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": "ENST00000972550.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.-251dupG",
"hgvs_p": null,
"transcript": "ENST00000879243.1",
"protein_id": "ENSP00000549302.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 703,
"cds_start": null,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879243.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.-251dupG",
"hgvs_p": null,
"transcript": "ENST00000972551.1",
"protein_id": "ENSP00000642610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": null,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972551.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.-251dupG",
"hgvs_p": null,
"transcript": "ENST00000972547.1",
"protein_id": "ENSP00000642606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": null,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972547.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.48-100dupG",
"hgvs_p": null,
"transcript": "ENST00000715146.1",
"protein_id": "ENSP00000520347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 816,
"cds_start": null,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715146.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "YY1AP1",
"gene_hgnc_id": 30935,
"hgvs_c": "c.48-100dupG",
"hgvs_p": null,
"transcript": "NM_139118.3",
"protein_id": "NP_620829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 796,
"cds_start": null,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139118.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"transcript": "ENST00000715142.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000715142.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "YY1AP1",
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"transcript": "ENST00000715145.1",
"protein_id": "ENSP00000520346.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000715145.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"intron_variant"
],
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"exon_count": 9,
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"gene_symbol": "YY1AP1",
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"transcript": "ENST00000715147.1",
"protein_id": "ENSP00000520348.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000715147.1"
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{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 10,
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"gene_symbol": "YY1AP1",
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"hgvs_c": "c.-318dupG",
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"transcript": "ENST00000311573.9",
"protein_id": "ENSP00000311138.5",
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"cds_length": 2160,
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"biotype": "protein_coding",
"feature": "ENST00000311573.9"
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],
"gene_symbol": "YY1AP1",
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"dbsnp": "rs778715969",
"frequency_reference_population": 0.00002614716,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000268371,
"gnomad_genomes_af": 0.0000197244,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 3,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.743,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001198903.1",
"gene_symbol": "YY1AP1",
"hgnc_id": 30935,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.164dupG",
"hgvs_p": "p.Gly56fs"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000878821.1",
"gene_symbol": "DAP3",
"hgnc_id": 2673,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-88+109dupC",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "",
"gene_symbol": "LOC124904430",
"hgnc_id": null,
"effects": [
"intragenic_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.155688301dupC",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}