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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: X-56265560-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=56265560&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 56265560,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001324104.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Gln154Gln",
"transcript": "NM_007250.5",
"protein_id": "NP_009181.2",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 359,
"cds_start": 462,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000468660.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007250.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Gln154Gln",
"transcript": "ENST00000468660.6",
"protein_id": "ENSP00000417303.1",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 359,
"cds_start": 462,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007250.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468660.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.447G>A",
"hgvs_p": "p.Gln149Gln",
"transcript": "ENST00000640927.1",
"protein_id": "ENSP00000492126.1",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 252,
"cds_start": 447,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640927.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "n.462G>A",
"hgvs_p": null,
"transcript": "ENST00000358094.7",
"protein_id": "ENSP00000431911.1",
"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": "ENST00000358094.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "n.1302G>A",
"hgvs_p": null,
"transcript": "ENST00000476898.1",
"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": "retained_intron",
"feature": "ENST00000476898.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.477G>A",
"hgvs_p": "p.Gln159Gln",
"transcript": "NM_001324104.1",
"protein_id": "NP_001311033.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 364,
"cds_start": 477,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324104.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Gln154Gln",
"transcript": "NM_001324102.1",
"protein_id": "NP_001311031.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 359,
"cds_start": 462,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324102.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.453G>A",
"hgvs_p": "p.Gln151Gln",
"transcript": "NM_001324105.1",
"protein_id": "NP_001311034.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 356,
"cds_start": 453,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324105.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.450G>A",
"hgvs_p": "p.Gln150Gln",
"transcript": "ENST00000960354.1",
"protein_id": "ENSP00000630413.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 355,
"cds_start": 450,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960354.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Gln154Gln",
"transcript": "NM_001324100.1",
"protein_id": "NP_001311029.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 275,
"cds_start": 462,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324100.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Gln154Gln",
"transcript": "NM_001159296.2",
"protein_id": "NP_001152768.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 257,
"cds_start": 462,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159296.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Gln154Gln",
"transcript": "ENST00000374928.7",
"protein_id": "ENSP00000364063.3",
"transcript_support_level": 2,
"aa_start": 154,
"aa_end": null,
"aa_length": 257,
"cds_start": 462,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374928.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.447G>A",
"hgvs_p": "p.Gln149Gln",
"transcript": "NM_001324099.1",
"protein_id": "NP_001311028.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 252,
"cds_start": 447,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324099.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Gln154Gln",
"transcript": "XM_047441795.1",
"protein_id": "XP_047297751.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 359,
"cds_start": 462,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441795.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Gln154Gln",
"transcript": "XM_047441796.1",
"protein_id": "XP_047297752.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 359,
"cds_start": 462,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441796.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Gln154Gln",
"transcript": "XM_047441797.1",
"protein_id": "XP_047297753.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 359,
"cds_start": 462,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441797.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Gln154Gln",
"transcript": "XM_047441798.1",
"protein_id": "XP_047297754.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 359,
"cds_start": 462,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441798.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Gln154Gln",
"transcript": "XM_047441799.1",
"protein_id": "XP_047297755.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 359,
"cds_start": 462,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441799.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.447G>A",
"hgvs_p": "p.Gln149Gln",
"transcript": "XM_017029250.3",
"protein_id": "XP_016884739.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 354,
"cds_start": 447,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029250.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.447G>A",
"hgvs_p": "p.Gln149Gln",
"transcript": "XM_047441800.1",
"protein_id": "XP_047297756.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 354,
"cds_start": 447,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441800.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Gln154Gln",
"transcript": "XM_006724575.3",
"protein_id": "XP_006724638.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 257,
"cds_start": 462,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724575.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Gln154Gln",
"transcript": "XM_024452332.2",
"protein_id": "XP_024308100.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 228,
"cds_start": 462,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452332.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "n.1323G>A",
"hgvs_p": null,
"transcript": "ENST00000462627.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000462627.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "n.639G>A",
"hgvs_p": null,
"transcript": "NR_136704.1",
"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_136704.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"hgvs_c": "n.1441G>A",
"hgvs_p": null,
"transcript": "NR_136705.1",
"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_136705.1"
}
],
"gene_symbol": "KLF8",
"gene_hgnc_id": 6351,
"dbsnp": "rs1555934005",
"frequency_reference_population": 0.0000018214804,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000182148,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"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": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.193,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001324104.1",
"gene_symbol": "KLF8",
"hgnc_id": 6351,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.477G>A",
"hgvs_p": "p.Gln159Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}