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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: 14-23561972-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23561972&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23561972,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003917.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1723G>A",
"hgvs_p": "p.Asp575Asn",
"transcript": "NM_003917.5",
"protein_id": "NP_003908.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 785,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397120.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003917.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1723G>A",
"hgvs_p": "p.Asp575Asn",
"transcript": "ENST00000397120.8",
"protein_id": "ENSP00000380309.3",
"transcript_support_level": 1,
"aa_start": 575,
"aa_end": null,
"aa_length": 785,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003917.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397120.8"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1723G>A",
"hgvs_p": "p.Asp575Asn",
"transcript": "ENST00000308724.9",
"protein_id": "ENSP00000312442.5",
"transcript_support_level": 1,
"aa_start": 575,
"aa_end": null,
"aa_length": 785,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308724.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "n.1896G>A",
"hgvs_p": null,
"transcript": "ENST00000460049.6",
"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": "ENST00000460049.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "n.1663G>A",
"hgvs_p": null,
"transcript": "ENST00000535852.6",
"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": "ENST00000535852.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Asp597Asn",
"transcript": "ENST00000888314.1",
"protein_id": "ENSP00000558373.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 807,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888314.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1762G>A",
"hgvs_p": "p.Asp588Asn",
"transcript": "ENST00000912333.1",
"protein_id": "ENSP00000582392.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 798,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912333.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1750G>A",
"hgvs_p": "p.Asp584Asn",
"transcript": "ENST00000941281.1",
"protein_id": "ENSP00000611340.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 794,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941281.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1744G>A",
"hgvs_p": "p.Asp582Asn",
"transcript": "ENST00000888315.1",
"protein_id": "ENSP00000558374.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 792,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888315.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1723G>A",
"hgvs_p": "p.Asp575Asn",
"transcript": "ENST00000888306.1",
"protein_id": "ENSP00000558365.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 785,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888306.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1723G>A",
"hgvs_p": "p.Asp575Asn",
"transcript": "ENST00000888318.1",
"protein_id": "ENSP00000558377.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 785,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888318.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1723G>A",
"hgvs_p": "p.Asp575Asn",
"transcript": "ENST00000888319.1",
"protein_id": "ENSP00000558378.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 785,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888319.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1720G>A",
"hgvs_p": "p.Asp574Asn",
"transcript": "ENST00000941282.1",
"protein_id": "ENSP00000611341.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 784,
"cds_start": 1720,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941282.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1708G>A",
"hgvs_p": "p.Asp570Asn",
"transcript": "ENST00000888313.1",
"protein_id": "ENSP00000558372.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 780,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888313.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1708G>A",
"hgvs_p": "p.Asp570Asn",
"transcript": "ENST00000912336.1",
"protein_id": "ENSP00000582395.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 780,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912336.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1708G>A",
"hgvs_p": "p.Asp570Asn",
"transcript": "ENST00000912341.1",
"protein_id": "ENSP00000582400.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 780,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912341.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Asp563Asn",
"transcript": "ENST00000888309.1",
"protein_id": "ENSP00000558368.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 773,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888309.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Asp563Asn",
"transcript": "ENST00000912337.1",
"protein_id": "ENSP00000582396.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 773,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912337.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Asp563Asn",
"transcript": "ENST00000912338.1",
"protein_id": "ENSP00000582397.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 773,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912338.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1684G>A",
"hgvs_p": "p.Asp562Asn",
"transcript": "ENST00000888308.1",
"protein_id": "ENSP00000558367.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 772,
"cds_start": 1684,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888308.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1684G>A",
"hgvs_p": "p.Asp562Asn",
"transcript": "ENST00000888311.1",
"protein_id": "ENSP00000558370.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 772,
"cds_start": 1684,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888311.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.1684G>A",
"hgvs_p": "p.Asp562Asn",
"transcript": "ENST00000888317.1",
"protein_id": "ENSP00000558376.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 772,
"cds_start": 1684,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AP1G2-AS1",
"gene_hgnc_id": 55442,
"hgvs_c": "n.777+99C>T",
"hgvs_p": null,
"transcript": "NR_110555.1",
"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_110555.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "c.*120G>A",
"hgvs_p": null,
"transcript": "XM_047431861.1",
"protein_id": "XP_047287817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": null,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431861.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"hgvs_c": "n.*215G>A",
"hgvs_p": null,
"transcript": "ENST00000554982.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000554982.5"
}
],
"gene_symbol": "AP1G2",
"gene_hgnc_id": 556,
"dbsnp": "rs367610818",
"frequency_reference_population": 0.0000204945,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000164599,
"gnomad_genomes_af": 0.0000591724,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16405782103538513,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.1253,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.858,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003917.5",
"gene_symbol": "AP1G2",
"hgnc_id": 556,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1723G>A",
"hgvs_p": "p.Asp575Asn"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000555968.1",
"gene_symbol": "AP1G2-AS1",
"hgnc_id": 55442,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.777+99C>T",
"hgvs_p": null
}
],
"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
}