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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: 11-112073102-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=112073102&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 112073102,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_138789.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "NM_138789.4",
"protein_id": "NP_620144.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 315,
"cds_start": 73,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000280350.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138789.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000280350.10",
"protein_id": "ENSP00000280350.4",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 315,
"cds_start": 73,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138789.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280350.10"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "NM_001439211.1",
"protein_id": "NP_001426140.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 315,
"cds_start": 73,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439211.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000532211.5",
"protein_id": "ENSP00000431841.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 315,
"cds_start": 73,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532211.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000957365.1",
"protein_id": "ENSP00000627424.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 315,
"cds_start": 73,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957365.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000957367.1",
"protein_id": "ENSP00000627426.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 315,
"cds_start": 73,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957367.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000957368.1",
"protein_id": "ENSP00000627427.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 315,
"cds_start": 73,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957368.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "NM_001082619.2",
"protein_id": "NP_001076088.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 288,
"cds_start": 73,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001082619.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "NM_001439212.1",
"protein_id": "NP_001426141.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 288,
"cds_start": 73,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439212.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000431456.6",
"protein_id": "ENSP00000388209.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 288,
"cds_start": 73,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431456.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000528775.6",
"protein_id": "ENSP00000434275.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 288,
"cds_start": 73,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528775.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "NM_001439210.1",
"protein_id": "NP_001426139.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 281,
"cds_start": 73,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439210.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000530641.5",
"protein_id": "ENSP00000431147.1",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 273,
"cds_start": 73,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530641.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "ENST00000957366.1",
"protein_id": "ENSP00000627425.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 233,
"cds_start": 73,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957366.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "XM_017017201.3",
"protein_id": "XP_016872690.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 316,
"cds_start": 73,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017201.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "XM_047426366.1",
"protein_id": "XP_047282322.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 316,
"cds_start": 73,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426366.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "XM_017017203.3",
"protein_id": "XP_016872692.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 289,
"cds_start": 73,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017203.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "XM_017017204.3",
"protein_id": "XP_016872693.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 281,
"cds_start": 73,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017204.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "XM_047426368.1",
"protein_id": "XP_047282324.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 281,
"cds_start": 73,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426368.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg",
"transcript": "XM_047426369.1",
"protein_id": "XP_047282325.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 273,
"cds_start": 73,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426369.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "n.73A>C",
"hgvs_p": null,
"transcript": "ENST00000676994.1",
"protein_id": "ENSP00000503801.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000676994.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "n.142A>C",
"hgvs_p": null,
"transcript": "XR_007062449.1",
"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": "XR_007062449.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "n.142A>C",
"hgvs_p": null,
"transcript": "XR_007062450.1",
"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": "XR_007062450.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "c.-12A>C",
"hgvs_p": null,
"transcript": "ENST00000525072.5",
"protein_id": "ENSP00000431336.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": null,
"cds_end": null,
"cds_length": 754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525072.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "n.-8A>C",
"hgvs_p": null,
"transcript": "ENST00000521853.2",
"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": "pseudogene",
"feature": "ENST00000521853.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"hgvs_c": "n.-33A>C",
"hgvs_p": null,
"transcript": "ENST00000525744.1",
"protein_id": "ENSP00000433297.1",
"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": "non_stop_decay",
"feature": "ENST00000525744.1"
}
],
"gene_symbol": "PIH1D2",
"gene_hgnc_id": 25210,
"dbsnp": null,
"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": 0.27646294236183167,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.148,
"revel_prediction": "Benign",
"alphamissense_score": 0.4259,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.786,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138789.4",
"gene_symbol": "PIH1D2",
"hgnc_id": 25210,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.73A>C",
"hgvs_p": "p.Ser25Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}