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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: 20-3800496-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3800496&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3800496,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_021873.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Pro153Thr",
"transcript": "NM_021873.4",
"protein_id": "NP_068659.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 580,
"cds_start": 457,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000245960.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021873.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Pro153Thr",
"transcript": "ENST00000245960.10",
"protein_id": "ENSP00000245960.5",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 580,
"cds_start": 457,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021873.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245960.10"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.415C>A",
"hgvs_p": "p.Pro139Thr",
"transcript": "ENST00000439880.6",
"protein_id": "ENSP00000405972.2",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 566,
"cds_start": 415,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439880.6"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Pro153Thr",
"transcript": "ENST00000340833.4",
"protein_id": "ENSP00000339170.4",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 539,
"cds_start": 457,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340833.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "n.398C>A",
"hgvs_p": null,
"transcript": "ENST00000467519.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000467519.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Pro153Thr",
"transcript": "ENST00000855782.1",
"protein_id": "ENSP00000525841.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 605,
"cds_start": 457,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855782.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Pro153Thr",
"transcript": "ENST00000855780.1",
"protein_id": "ENSP00000525839.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 589,
"cds_start": 457,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855780.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Pro153Thr",
"transcript": "ENST00000855779.1",
"protein_id": "ENSP00000525838.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 580,
"cds_start": 457,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855779.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Pro153Thr",
"transcript": "ENST00000940254.1",
"protein_id": "ENSP00000610313.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 573,
"cds_start": 457,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940254.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.415C>A",
"hgvs_p": "p.Pro139Thr",
"transcript": "NM_004358.5",
"protein_id": "NP_004349.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 566,
"cds_start": 415,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004358.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Pro153Thr",
"transcript": "ENST00000855781.1",
"protein_id": "ENSP00000525840.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 553,
"cds_start": 457,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855781.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Pro153Thr",
"transcript": "NM_021872.4",
"protein_id": "NP_068658.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 539,
"cds_start": 457,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021872.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.265C>A",
"hgvs_p": "p.Pro89Thr",
"transcript": "NM_001287516.2",
"protein_id": "NP_001274445.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 516,
"cds_start": 265,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287516.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.265C>A",
"hgvs_p": "p.Pro89Thr",
"transcript": "ENST00000344256.10",
"protein_id": "ENSP00000339125.6",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 516,
"cds_start": 265,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344256.10"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Pro153Thr",
"transcript": "ENST00000855783.1",
"protein_id": "ENSP00000525842.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 512,
"cds_start": 457,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855783.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Pro75Thr",
"transcript": "NM_001287517.2",
"protein_id": "NP_001274446.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 502,
"cds_start": 223,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287517.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.265C>A",
"hgvs_p": "p.Pro89Thr",
"transcript": "NM_001287518.2",
"protein_id": "NP_001274447.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 489,
"cds_start": 265,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287518.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.265C>A",
"hgvs_p": "p.Pro89Thr",
"transcript": "ENST00000379598.9",
"protein_id": "ENSP00000368918.5",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 489,
"cds_start": 265,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379598.9"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.121C>A",
"hgvs_p": "p.Pro41Thr",
"transcript": "NM_001287519.2",
"protein_id": "NP_001274448.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 468,
"cds_start": 121,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287519.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.121C>A",
"hgvs_p": "p.Pro41Thr",
"transcript": "NM_001287520.2",
"protein_id": "NP_001274449.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 468,
"cds_start": 121,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287520.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.121C>A",
"hgvs_p": "p.Pro41Thr",
"transcript": "NM_001287522.2",
"protein_id": "NP_001274451.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 427,
"cds_start": 121,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287522.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "c.4C>A",
"hgvs_p": "p.Pro2Thr",
"transcript": "NM_001287524.2",
"protein_id": "NP_001274453.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 388,
"cds_start": 4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287524.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "n.348C>A",
"hgvs_p": null,
"transcript": "NR_136335.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_136335.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"hgvs_c": "n.446C>A",
"hgvs_p": null,
"transcript": "NR_136336.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_136336.2"
}
],
"gene_symbol": "CDC25B",
"gene_hgnc_id": 1726,
"dbsnp": "rs770312291",
"frequency_reference_population": 0.00009107739,
"hom_count_reference_population": 0,
"allele_count_reference_population": 147,
"gnomad_exomes_af": 0.0000916687,
"gnomad_genomes_af": 0.0000853993,
"gnomad_exomes_ac": 134,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8983404636383057,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7839999794960022,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.468,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4629,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.223,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.956194403486309,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021873.4",
"gene_symbol": "CDC25B",
"hgnc_id": 1726,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Pro153Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}