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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: 14-70946994-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=70946994&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 70946994,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014982.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "NM_014982.3",
"protein_id": "NP_055797.2",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 2341,
"cds_start": 233,
"cds_end": null,
"cds_length": 7026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304743.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014982.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "ENST00000304743.7",
"protein_id": "ENSP00000304192.2",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 2341,
"cds_start": 233,
"cds_end": null,
"cds_length": 7026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014982.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304743.7"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "ENST00000439984.7",
"protein_id": "ENSP00000396617.3",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 2230,
"cds_start": 233,
"cds_end": null,
"cds_length": 6693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439984.7"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "n.679A>T",
"hgvs_p": null,
"transcript": "ENST00000554879.5",
"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": "retained_intron",
"feature": "ENST00000554879.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "NM_001308160.2",
"protein_id": "NP_001295089.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 2230,
"cds_start": 233,
"cds_end": null,
"cds_length": 6693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308160.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "XM_005267420.5",
"protein_id": "XP_005267477.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 2349,
"cds_start": 233,
"cds_end": null,
"cds_length": 7050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267420.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "XM_005267421.5",
"protein_id": "XP_005267478.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 2348,
"cds_start": 233,
"cds_end": null,
"cds_length": 7047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267421.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "XM_005267422.5",
"protein_id": "XP_005267479.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 2344,
"cds_start": 233,
"cds_end": null,
"cds_length": 7035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267422.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "XM_047431121.1",
"protein_id": "XP_047287077.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 2340,
"cds_start": 233,
"cds_end": null,
"cds_length": 7023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431121.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "XM_005267423.5",
"protein_id": "XP_005267480.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 2336,
"cds_start": 233,
"cds_end": null,
"cds_length": 7011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267423.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "XM_047431122.1",
"protein_id": "XP_047287078.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 2335,
"cds_start": 233,
"cds_end": null,
"cds_length": 7008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431122.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.122A>T",
"hgvs_p": "p.Asn41Ile",
"transcript": "XM_005267424.4",
"protein_id": "XP_005267481.2",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 2312,
"cds_start": 122,
"cds_end": null,
"cds_length": 6939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267424.4"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.122A>T",
"hgvs_p": "p.Asn41Ile",
"transcript": "XM_047431123.1",
"protein_id": "XP_047287079.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 2304,
"cds_start": 122,
"cds_end": null,
"cds_length": 6915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431123.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "XM_005267425.5",
"protein_id": "XP_005267482.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 2243,
"cds_start": 233,
"cds_end": null,
"cds_length": 6732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267425.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "XM_047431124.1",
"protein_id": "XP_047287080.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 2238,
"cds_start": 233,
"cds_end": null,
"cds_length": 6717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431124.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "XM_017021096.2",
"protein_id": "XP_016876585.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 2235,
"cds_start": 233,
"cds_end": null,
"cds_length": 6708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021096.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.122A>T",
"hgvs_p": "p.Asn41Ile",
"transcript": "XM_047431125.1",
"protein_id": "XP_047287081.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 2206,
"cds_start": 122,
"cds_end": null,
"cds_length": 6621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431125.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.122A>T",
"hgvs_p": "p.Asn41Ile",
"transcript": "XM_047431126.1",
"protein_id": "XP_047287082.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 2198,
"cds_start": 122,
"cds_end": null,
"cds_length": 6597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431126.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "XM_005267427.5",
"protein_id": "XP_005267484.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1515,
"cds_start": 233,
"cds_end": null,
"cds_length": 4548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267427.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.233A>T",
"hgvs_p": "p.Asn78Ile",
"transcript": "XM_047431130.1",
"protein_id": "XP_047287086.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1469,
"cds_start": 233,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431130.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "n.113A>T",
"hgvs_p": null,
"transcript": "ENST00000553508.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000553508.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ENSG00000287643",
"gene_hgnc_id": null,
"hgvs_c": "n.3329T>A",
"hgvs_p": null,
"transcript": "ENST00000661959.1",
"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,
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"mane_select": null,
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{
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{
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{
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],
"gene_symbol": "PCNX1",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9524,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.473,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
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"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014982.3",
"gene_symbol": "PCNX1",
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"effects": [
"missense_variant"
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"inheritance_mode": "",
"hgvs_c": "c.233A>T",
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{
"score": 4,
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000661959.1",
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"effects": [
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"hgvs_c": "n.3329T>A",
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{
"score": 4,
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"criteria": [
"PM2",
"PP3_Moderate"
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"verdict": "Uncertain_significance",
"transcript": "XR_944006.4",
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"effects": [
"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
}