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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: 1-202425568-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202425568&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 202425568,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000608999.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "NM_002481.4",
"protein_id": "NP_002472.2",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 982,
"cds_start": 544,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 15244,
"mane_select": "ENST00000608999.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "ENST00000608999.6",
"protein_id": "ENSP00000476755.1",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 982,
"cds_start": 544,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 15244,
"mane_select": "NM_002481.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "ENST00000480184.5",
"protein_id": "ENSP00000417159.1",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 515,
"cds_start": 544,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "ENST00000356764.6",
"protein_id": "ENSP00000349206.2",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 386,
"cds_start": 544,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 1687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "NM_001331029.2",
"protein_id": "NP_001317958.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1043,
"cds_start": 544,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 15427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "ENST00000391959.5",
"protein_id": "ENSP00000375821.5",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 1043,
"cds_start": 544,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 15431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "NM_001410283.1",
"protein_id": "NP_001397212.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 998,
"cds_start": 544,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 15425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "ENST00000704899.1",
"protein_id": "ENSP00000516058.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 998,
"cds_start": 544,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 5246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "NM_001167857.2",
"protein_id": "NP_001161329.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 515,
"cds_start": 544,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "NM_001167858.2",
"protein_id": "NP_001161330.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 386,
"cds_start": 544,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "XM_017001342.2",
"protein_id": "XP_016856831.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1059,
"cds_start": 544,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "XM_017001343.2",
"protein_id": "XP_016856832.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1058,
"cds_start": 544,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 3376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "XM_017001345.2",
"protein_id": "XP_016856834.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1042,
"cds_start": 544,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 15424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "XM_047421209.1",
"protein_id": "XP_047277165.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 896,
"cds_start": 544,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.40G>A",
"hgvs_p": "p.Val14Ile",
"transcript": "XM_047421210.1",
"protein_id": "XP_047277166.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 891,
"cds_start": 40,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile",
"transcript": "XM_005245206.5",
"protein_id": "XP_005245263.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 560,
"cds_start": 544,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "n.425G>A",
"hgvs_p": null,
"transcript": "ENST00000476364.5",
"protein_id": "ENSP00000417814.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "n.697G>A",
"hgvs_p": null,
"transcript": "XR_001737195.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "n.697G>A",
"hgvs_p": null,
"transcript": "XR_001737196.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "n.697G>A",
"hgvs_p": null,
"transcript": "XR_001737199.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "n.697G>A",
"hgvs_p": null,
"transcript": "XR_001737201.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12B",
"gene_hgnc_id": 7619,
"hgvs_c": "n.697G>A",
"hgvs_p": null,
"transcript": "XR_007060689.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
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},
{
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"non_coding_transcript_exon_variant"
],
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},
{
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"non_coding_transcript_exon_variant"
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},
{
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"intron_variant"
],
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"exon_count": 6,
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"gene_symbol": "PPP1R12B",
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}
],
"gene_symbol": "PPP1R12B",
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"dbsnp": "rs2843414",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.029557526111602783,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.5,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000608999.6",
"gene_symbol": "PPP1R12B",
"hgnc_id": 7619,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Val182Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}