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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: 6-124791373-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=124791373&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 124791373,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001040214.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN2",
"gene_hgnc_id": 16443,
"hgvs_c": "c.509A>T",
"hgvs_p": "p.Lys170Ile",
"transcript": "NM_001040214.3",
"protein_id": "NP_001035304.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 208,
"cds_start": 509,
"cds_end": null,
"cds_length": 627,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": "ENST00000368417.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040214.3"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN2",
"gene_hgnc_id": 16443,
"hgvs_c": "c.509A>T",
"hgvs_p": "p.Lys170Ile",
"transcript": "ENST00000368417.6",
"protein_id": "ENSP00000357402.1",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 208,
"cds_start": 509,
"cds_end": null,
"cds_length": 627,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": "NM_001040214.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368417.6"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN2",
"gene_hgnc_id": 16443,
"hgvs_c": "c.506A>T",
"hgvs_p": "p.Lys169Ile",
"transcript": "NM_001300737.2",
"protein_id": "NP_001287666.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 207,
"cds_start": 506,
"cds_end": null,
"cds_length": 624,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300737.2"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN2",
"gene_hgnc_id": 16443,
"hgvs_c": "c.308A>T",
"hgvs_p": "p.Lys103Ile",
"transcript": "NM_153355.5",
"protein_id": "NP_699186.2",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 141,
"cds_start": 308,
"cds_end": null,
"cds_length": 426,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153355.5"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN2",
"gene_hgnc_id": 16443,
"hgvs_c": "c.239A>T",
"hgvs_p": "p.Lys80Ile",
"transcript": "NM_001300738.2",
"protein_id": "NP_001287667.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 118,
"cds_start": 239,
"cds_end": null,
"cds_length": 357,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 3388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300738.2"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN2",
"gene_hgnc_id": 16443,
"hgvs_c": "c.203A>T",
"hgvs_p": "p.Lys68Ile",
"transcript": "NM_001300740.1",
"protein_id": "NP_001287669.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 106,
"cds_start": 203,
"cds_end": null,
"cds_length": 321,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300740.1"
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN2",
"gene_hgnc_id": 16443,
"hgvs_c": "c.428A>T",
"hgvs_p": "p.Lys143Ile",
"transcript": "XM_017010318.3",
"protein_id": "XP_016865807.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 181,
"cds_start": 428,
"cds_end": null,
"cds_length": 546,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010318.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN2",
"gene_hgnc_id": 16443,
"hgvs_c": "n.845A>T",
"hgvs_p": null,
"transcript": "XR_007059213.1",
"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": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059213.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN2",
"gene_hgnc_id": 16443,
"hgvs_c": "n.764A>T",
"hgvs_p": null,
"transcript": "XR_007059214.1",
"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": 3382,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059214.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN2",
"gene_hgnc_id": 16443,
"hgvs_c": "n.644A>T",
"hgvs_p": null,
"transcript": "XR_007059215.1",
"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": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059215.1"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RNF217-AS1",
"gene_hgnc_id": 50866,
"hgvs_c": "n.849-4843T>A",
"hgvs_p": null,
"transcript": "ENST00000655205.1",
"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": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000655205.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RNF217-AS1",
"gene_hgnc_id": 50866,
"hgvs_c": "n.1164-4843T>A",
"hgvs_p": null,
"transcript": "ENST00000656500.1",
"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": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000656500.1"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RNF217-AS1",
"gene_hgnc_id": 50866,
"hgvs_c": "n.677-4843T>A",
"hgvs_p": null,
"transcript": "ENST00000658682.1",
"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": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000658682.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RNF217-AS1",
"gene_hgnc_id": 50866,
"hgvs_c": "n.545-4843T>A",
"hgvs_p": null,
"transcript": "ENST00000663550.1",
"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": 905,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000663550.1"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF217-AS1",
"gene_hgnc_id": 50866,
"hgvs_c": "n.736-4843T>A",
"hgvs_p": null,
"transcript": "ENST00000663732.1",
"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": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000663732.1"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RNF217-AS1",
"gene_hgnc_id": 50866,
"hgvs_c": "n.536-4843T>A",
"hgvs_p": null,
"transcript": "ENST00000663792.1",
"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": 1815,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000663792.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RNF217-AS1",
"gene_hgnc_id": 50866,
"hgvs_c": "n.183-4843T>A",
"hgvs_p": null,
"transcript": "ENST00000666728.1",
"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": 1646,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000666728.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RNF217-AS1",
"gene_hgnc_id": 50866,
"hgvs_c": "n.610-4843T>A",
"hgvs_p": null,
"transcript": "ENST00000687689.2",
"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": 1326,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000687689.2"
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF217-AS1",
"gene_hgnc_id": 50866,
"hgvs_c": "n.728-4843T>A",
"hgvs_p": null,
"transcript": "ENST00000803589.1",
"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": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000803589.1"
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF217-AS1",
"gene_hgnc_id": 50866,
"hgvs_c": "n.779-4843T>A",
"hgvs_p": null,
"transcript": "ENST00000803590.1",
"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": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000803590.1"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RNF217-AS1",
"gene_hgnc_id": 50866,
"hgvs_c": "n.537-4843T>A",
"hgvs_p": null,
"transcript": "ENST00000803591.1",
"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": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000803591.1"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF217-AS1",
"gene_hgnc_id": 50866,
"hgvs_c": "n.763-4843T>A",
"hgvs_p": null,
"transcript": "ENST00000803592.1",
"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": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000803592.1"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF217-AS1",
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{
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],
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.654,
"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
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"inheritance_mode": "AR",
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{
"score": 2,
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"verdict": "Uncertain_significance",
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"intron_variant"
],
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}