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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: 17-36579322-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=36579322&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 36579322,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_024835.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.923A>G",
"hgvs_p": "p.Glu308Gly",
"transcript": "NM_024835.5",
"protein_id": "NP_079111.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 697,
"cds_start": 923,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": "ENST00000613102.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024835.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.923A>G",
"hgvs_p": "p.Glu308Gly",
"transcript": "ENST00000613102.5",
"protein_id": "ENSP00000478220.1",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 697,
"cds_start": 923,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": "NM_024835.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613102.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Glu351Gly",
"transcript": "ENST00000934644.1",
"protein_id": "ENSP00000604703.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 740,
"cds_start": 1052,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934644.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.929A>G",
"hgvs_p": "p.Glu310Gly",
"transcript": "ENST00000934643.1",
"protein_id": "ENSP00000604702.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 705,
"cds_start": 929,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934643.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.929A>G",
"hgvs_p": "p.Glu310Gly",
"transcript": "ENST00000870041.1",
"protein_id": "ENSP00000540100.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 699,
"cds_start": 929,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 2842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870041.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.929A>G",
"hgvs_p": "p.Glu310Gly",
"transcript": "ENST00000870042.1",
"protein_id": "ENSP00000540101.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 699,
"cds_start": 929,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870042.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.929A>G",
"hgvs_p": "p.Glu310Gly",
"transcript": "ENST00000870044.1",
"protein_id": "ENSP00000540103.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 699,
"cds_start": 929,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 2943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870044.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.929A>G",
"hgvs_p": "p.Glu310Gly",
"transcript": "ENST00000870047.1",
"protein_id": "ENSP00000540106.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 699,
"cds_start": 929,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 2676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870047.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.923A>G",
"hgvs_p": "p.Glu308Gly",
"transcript": "ENST00000870040.1",
"protein_id": "ENSP00000540099.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 697,
"cds_start": 923,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 2782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870040.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.923A>G",
"hgvs_p": "p.Glu308Gly",
"transcript": "ENST00000870045.1",
"protein_id": "ENSP00000540104.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 697,
"cds_start": 923,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870045.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.923A>G",
"hgvs_p": "p.Glu308Gly",
"transcript": "ENST00000870046.1",
"protein_id": "ENSP00000540105.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 697,
"cds_start": 923,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870046.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.923A>G",
"hgvs_p": "p.Glu308Gly",
"transcript": "ENST00000970049.1",
"protein_id": "ENSP00000640108.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 697,
"cds_start": 923,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970049.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.923A>G",
"hgvs_p": "p.Glu308Gly",
"transcript": "ENST00000970052.1",
"protein_id": "ENSP00000640111.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 695,
"cds_start": 923,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970052.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.923A>G",
"hgvs_p": "p.Glu308Gly",
"transcript": "ENST00000970050.1",
"protein_id": "ENSP00000640109.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 692,
"cds_start": 923,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970050.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.824A>G",
"hgvs_p": "p.Glu275Gly",
"transcript": "ENST00000970053.1",
"protein_id": "ENSP00000640112.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 664,
"cds_start": 824,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970053.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.809A>G",
"hgvs_p": "p.Glu270Gly",
"transcript": "ENST00000870043.1",
"protein_id": "ENSP00000540102.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 659,
"cds_start": 809,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870043.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.923A>G",
"hgvs_p": "p.Glu308Gly",
"transcript": "ENST00000970051.1",
"protein_id": "ENSP00000640110.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 614,
"cds_start": 923,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 2546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970051.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.929A>G",
"hgvs_p": "p.Glu310Gly",
"transcript": "XM_005257689.4",
"protein_id": "XP_005257746.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 699,
"cds_start": 929,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257689.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.836A>G",
"hgvs_p": "p.Glu279Gly",
"transcript": "XM_011525265.4",
"protein_id": "XP_011523567.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 668,
"cds_start": 836,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525265.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.830A>G",
"hgvs_p": "p.Glu277Gly",
"transcript": "XM_017025107.2",
"protein_id": "XP_016880596.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 666,
"cds_start": 830,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025107.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Glu272Gly",
"transcript": "XM_011525266.3",
"protein_id": "XP_011523568.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 661,
"cds_start": 815,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525266.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.809A>G",
"hgvs_p": "p.Glu270Gly",
"transcript": "XM_047436774.1",
"protein_id": "XP_047292730.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 659,
"cds_start": 809,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1094,
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"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436774.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "c.716A>G",
"hgvs_p": "p.Glu239Gly",
"transcript": "XM_047436775.1",
"protein_id": "XP_047292731.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 628,
"cds_start": 716,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436775.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "n.2266A>G",
"hgvs_p": null,
"transcript": "ENST00000617860.4",
"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": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000617860.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "n.1195A>G",
"hgvs_p": null,
"transcript": "ENST00000618837.4",
"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": 2346,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000618837.4"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"hgvs_c": "n.1608A>G",
"hgvs_p": null,
"transcript": "ENST00000619573.1",
"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": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000619573.1"
}
],
"gene_symbol": "GGNBP2",
"gene_hgnc_id": 19357,
"dbsnp": "rs139100369",
"frequency_reference_population": 0.000008673672,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000342035,
"gnomad_genomes_af": 0.0000591164,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8725903630256653,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.815,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9051,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.583,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_024835.5",
"gene_symbol": "GGNBP2",
"hgnc_id": 19357,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.923A>G",
"hgvs_p": "p.Glu308Gly"
}
],
"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
}