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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-56265420-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=56265420&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KLF8",
"hgnc_id": 6351,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Ile113Val",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001324104.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS2",
"acmg_score": -12,
"allele_count_reference_population": 7608,
"alphamissense_prediction": null,
"alphamissense_score": 0.1057,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.99,
"chr": "X",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.003047764301300049,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 359,
"aa_ref": "I",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9096,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 1080,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_007250.5",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Ile108Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000468660.6",
"protein_coding": true,
"protein_id": "NP_009181.2",
"strand": true,
"transcript": "NM_007250.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 359,
"aa_ref": "I",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9096,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 1080,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000468660.6",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Ile108Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007250.5",
"protein_coding": true,
"protein_id": "ENSP00000417303.1",
"strand": true,
"transcript": "ENST00000468660.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 252,
"aa_ref": "I",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1150,
"cdna_start": 371,
"cds_end": null,
"cds_length": 759,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000640927.1",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.307A>G",
"hgvs_p": "p.Ile103Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492126.1",
"strand": true,
"transcript": "ENST00000640927.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1908,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000358094.7",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "n.322A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431911.1",
"strand": true,
"transcript": "ENST00000358094.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4950,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000476898.1",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "n.1162A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000476898.1",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 364,
"aa_ref": "I",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8460,
"cdna_start": 665,
"cds_end": null,
"cds_length": 1095,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001324104.1",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Ile113Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311033.1",
"strand": true,
"transcript": "NM_001324104.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 359,
"aa_ref": "I",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8694,
"cdna_start": 899,
"cds_end": null,
"cds_length": 1080,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001324102.1",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Ile108Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311031.1",
"strand": true,
"transcript": "NM_001324102.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 356,
"aa_ref": "I",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8788,
"cdna_start": 993,
"cds_end": null,
"cds_length": 1071,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001324105.1",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Ile105Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311034.1",
"strand": true,
"transcript": "NM_001324105.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 355,
"aa_ref": "I",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1068,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000960354.1",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Ile104Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630413.1",
"strand": true,
"transcript": "ENST00000960354.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 275,
"aa_ref": "I",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8042,
"cdna_start": 499,
"cds_end": null,
"cds_length": 828,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001324100.1",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Ile108Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311029.1",
"strand": true,
"transcript": "NM_001324100.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 257,
"aa_ref": "I",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8544,
"cdna_start": 889,
"cds_end": null,
"cds_length": 774,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001159296.2",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Ile108Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001152768.1",
"strand": true,
"transcript": "NM_001159296.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 257,
"aa_ref": "I",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4821,
"cdna_start": 808,
"cds_end": null,
"cds_length": 774,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000374928.7",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Ile108Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364063.3",
"strand": true,
"transcript": "ENST00000374928.7",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 252,
"aa_ref": "I",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8080,
"cdna_start": 425,
"cds_end": null,
"cds_length": 759,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001324099.1",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.307A>G",
"hgvs_p": "p.Ile103Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311028.1",
"strand": true,
"transcript": "NM_001324099.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 359,
"aa_ref": "I",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8540,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1080,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047441795.1",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Ile108Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297751.1",
"strand": true,
"transcript": "XM_047441795.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 359,
"aa_ref": "I",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8427,
"cdna_start": 632,
"cds_end": null,
"cds_length": 1080,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047441796.1",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Ile108Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297752.1",
"strand": true,
"transcript": "XM_047441796.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 359,
"aa_ref": "I",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8460,
"cdna_start": 665,
"cds_end": null,
"cds_length": 1080,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047441797.1",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Ile108Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297753.1",
"strand": true,
"transcript": "XM_047441797.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 359,
"aa_ref": "I",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8410,
"cdna_start": 615,
"cds_end": null,
"cds_length": 1080,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047441798.1",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Ile108Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297754.1",
"strand": true,
"transcript": "XM_047441798.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 359,
"aa_ref": "I",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8490,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1080,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047441799.1",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Ile108Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297755.1",
"strand": true,
"transcript": "XM_047441799.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 354,
"aa_ref": "I",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8670,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1065,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017029250.3",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.307A>G",
"hgvs_p": "p.Ile103Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884739.1",
"strand": true,
"transcript": "XM_017029250.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 354,
"aa_ref": "I",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8353,
"cdna_start": 558,
"cds_end": null,
"cds_length": 1065,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047441800.1",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.307A>G",
"hgvs_p": "p.Ile103Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297756.1",
"strand": true,
"transcript": "XM_047441800.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 257,
"aa_ref": "I",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8956,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 774,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006724575.3",
"gene_hgnc_id": 6351,
"gene_symbol": "KLF8",
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Ile108Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724638.1",
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}