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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: 1-100484304-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=100484304&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 100484304,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_033312.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Ser330Ser",
"transcript": "NM_003672.4",
"protein_id": "NP_003663.2",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 594,
"cds_start": 990,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336454.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003672.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Ser330Ser",
"transcript": "ENST00000336454.5",
"protein_id": "ENSP00000336739.3",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 594,
"cds_start": 990,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003672.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336454.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Ser330Ser",
"transcript": "ENST00000361544.11",
"protein_id": "ENSP00000354916.6",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 623,
"cds_start": 990,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361544.11"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Ser330Ser",
"transcript": "ENST00000370124.8",
"protein_id": "ENSP00000359142.3",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 383,
"cds_start": 990,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370124.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.993G>A",
"hgvs_p": "p.Ser331Ser",
"transcript": "ENST00000644676.1",
"protein_id": "ENSP00000494661.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 624,
"cds_start": 993,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644676.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Ser330Ser",
"transcript": "NM_033312.3",
"protein_id": "NP_201569.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 623,
"cds_start": 990,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033312.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Ser330Ser",
"transcript": "NM_001319210.2",
"protein_id": "NP_001306139.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 610,
"cds_start": 990,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319210.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Ser330Ser",
"transcript": "ENST00000644813.1",
"protein_id": "ENSP00000496374.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 610,
"cds_start": 990,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644813.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.1035G>A",
"hgvs_p": "p.Ser345Ser",
"transcript": "ENST00000873832.1",
"protein_id": "ENSP00000543891.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 609,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873832.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.1011G>A",
"hgvs_p": "p.Ser337Ser",
"transcript": "ENST00000717967.1",
"protein_id": "ENSP00000520653.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 601,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000717967.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.1002G>A",
"hgvs_p": "p.Ser334Ser",
"transcript": "ENST00000955911.1",
"protein_id": "ENSP00000625970.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 598,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955911.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser",
"transcript": "NM_001319211.2",
"protein_id": "NP_001306140.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 565,
"cds_start": 816,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319211.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser",
"transcript": "ENST00000635056.2",
"protein_id": "ENSP00000489217.1",
"transcript_support_level": 2,
"aa_start": 272,
"aa_end": null,
"aa_length": 565,
"cds_start": 816,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635056.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser",
"transcript": "ENST00000647005.1",
"protein_id": "ENSP00000495617.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 552,
"cds_start": 816,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647005.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Ser330Ser",
"transcript": "ENST00000873833.1",
"protein_id": "ENSP00000543892.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 480,
"cds_start": 990,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873833.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Ser330Ser",
"transcript": "NM_033313.3",
"protein_id": "NP_201570.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 383,
"cds_start": 990,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033313.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "c.111G>A",
"hgvs_p": "p.Ser37Ser",
"transcript": "NM_001319212.2",
"protein_id": "NP_001306141.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 330,
"cds_start": 111,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319212.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "n.816G>A",
"hgvs_p": null,
"transcript": "ENST00000644844.1",
"protein_id": "ENSP00000494417.1",
"transcript_support_level": null,
"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": "ENST00000644844.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "n.*326G>A",
"hgvs_p": null,
"transcript": "ENST00000646563.1",
"protein_id": "ENSP00000493651.1",
"transcript_support_level": null,
"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": "ENST00000646563.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "n.*639G>A",
"hgvs_p": null,
"transcript": "ENST00000646665.1",
"protein_id": "ENSP00000496153.1",
"transcript_support_level": null,
"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": "ENST00000646665.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "n.949G>A",
"hgvs_p": null,
"transcript": "ENST00000647203.1",
"protein_id": "ENSP00000494551.1",
"transcript_support_level": null,
"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": "ENST00000647203.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "n.*326G>A",
"hgvs_p": null,
"transcript": "ENST00000646563.1",
"protein_id": "ENSP00000493651.1",
"transcript_support_level": null,
"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": "ENST00000646563.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"hgvs_c": "n.*639G>A",
"hgvs_p": null,
"transcript": "ENST00000646665.1",
"protein_id": "ENSP00000496153.1",
"transcript_support_level": null,
"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": "ENST00000646665.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228086",
"gene_hgnc_id": null,
"hgvs_c": "n.82+1612C>T",
"hgvs_p": null,
"transcript": "ENST00000432210.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000432210.1"
}
],
"gene_symbol": "CDC14A",
"gene_hgnc_id": 1718,
"dbsnp": "rs2270694",
"frequency_reference_population": 0.121304624,
"hom_count_reference_population": 12304,
"allele_count_reference_population": 189505,
"gnomad_exomes_af": 0.122345,
"gnomad_genomes_af": 0.111655,
"gnomad_exomes_ac": 172533,
"gnomad_genomes_ac": 16972,
"gnomad_exomes_homalt": 11175,
"gnomad_genomes_homalt": 1129,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7200000286102295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.0755,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.229,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_033312.3",
"gene_symbol": "CDC14A",
"hgnc_id": 1718,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Ser330Ser"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000432210.1",
"gene_symbol": "ENSG00000228086",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.82+1612C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}