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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: 16-29876761-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=29876761&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 29876761,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001243332.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.2099A>T",
"hgvs_p": "p.Gln700Leu",
"transcript": "NM_001243332.2",
"protein_id": "NP_001230261.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 923,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000617533.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243332.2"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.2099A>T",
"hgvs_p": "p.Gln700Leu",
"transcript": "ENST00000617533.5",
"protein_id": "ENSP00000481917.1",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 923,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001243332.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617533.5"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.2099A>T",
"hgvs_p": "p.Gln700Leu",
"transcript": "ENST00000308713.9",
"protein_id": "ENSP00000312550.5",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 910,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308713.9"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.1889A>T",
"hgvs_p": "p.Gln630Leu",
"transcript": "ENST00000350527.7",
"protein_id": "ENSP00000310206.3",
"transcript_support_level": 1,
"aa_start": 630,
"aa_end": null,
"aa_length": 853,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350527.7"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.1757A>T",
"hgvs_p": "p.Gln586Leu",
"transcript": "ENST00000346932.9",
"protein_id": "ENSP00000319215.6",
"transcript_support_level": 1,
"aa_start": 586,
"aa_end": null,
"aa_length": 809,
"cds_start": 1757,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346932.9"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.2117A>T",
"hgvs_p": "p.Gln706Leu",
"transcript": "ENST00000948745.1",
"protein_id": "ENSP00000618804.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 916,
"cds_start": 2117,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948745.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.2099A>T",
"hgvs_p": "p.Gln700Leu",
"transcript": "NM_201575.4",
"protein_id": "NP_963869.2",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 910,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201575.4"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.1967A>T",
"hgvs_p": "p.Gln656Leu",
"transcript": "NM_001243333.2",
"protein_id": "NP_001230262.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 879,
"cds_start": 1967,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243333.2"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.1967A>T",
"hgvs_p": "p.Gln656Leu",
"transcript": "ENST00000537485.5",
"protein_id": "ENSP00000439412.1",
"transcript_support_level": 2,
"aa_start": 656,
"aa_end": null,
"aa_length": 879,
"cds_start": 1967,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537485.5"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.2099A>T",
"hgvs_p": "p.Gln700Leu",
"transcript": "NM_001388364.1",
"protein_id": "NP_001375293.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 859,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388364.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.2099A>T",
"hgvs_p": "p.Gln700Leu",
"transcript": "ENST00000876147.1",
"protein_id": "ENSP00000546206.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 859,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876147.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.1898A>T",
"hgvs_p": "p.Gln633Leu",
"transcript": "NM_001388365.1",
"protein_id": "NP_001375294.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 856,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388365.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.1889A>T",
"hgvs_p": "p.Gln630Leu",
"transcript": "NM_012410.4",
"protein_id": "NP_036542.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 853,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012410.4"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.1889A>T",
"hgvs_p": "p.Gln630Leu",
"transcript": "NM_001114099.3",
"protein_id": "NP_001107571.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 840,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114099.3"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.1889A>T",
"hgvs_p": "p.Gln630Leu",
"transcript": "ENST00000876146.1",
"protein_id": "ENSP00000546205.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 840,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876146.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.1757A>T",
"hgvs_p": "p.Gln586Leu",
"transcript": "NM_001114100.3",
"protein_id": "NP_001107572.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 809,
"cds_start": 1757,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114100.3"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.1757A>T",
"hgvs_p": "p.Gln586Leu",
"transcript": "NM_001388363.1",
"protein_id": "NP_001375292.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 796,
"cds_start": 1757,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388363.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.1757A>T",
"hgvs_p": "p.Gln586Leu",
"transcript": "ENST00000876145.1",
"protein_id": "ENSP00000546204.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 796,
"cds_start": 1757,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876145.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.1889A>T",
"hgvs_p": "p.Gln630Leu",
"transcript": "ENST00000876148.1",
"protein_id": "ENSP00000546207.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 789,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876148.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.2099A>T",
"hgvs_p": "p.Gln700Leu",
"transcript": "ENST00000932930.1",
"protein_id": "ENSP00000602989.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 782,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932930.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.1547A>T",
"hgvs_p": "p.Gln516Leu",
"transcript": "ENST00000876149.1",
"protein_id": "ENSP00000546208.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 739,
"cds_start": 1547,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876149.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.1547A>T",
"hgvs_p": "p.Gln516Leu",
"transcript": "ENST00000876150.1",
"protein_id": "ENSP00000546209.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 726,
"cds_start": 1547,
"cds_end": null,
"cds_length": 2181,
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876150.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.1547A>T",
"hgvs_p": "p.Gln516Leu",
"transcript": "ENST00000948744.1",
"protein_id": "ENSP00000618803.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 675,
"cds_start": 1547,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948744.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "c.*4A>T",
"hgvs_p": null,
"transcript": "ENST00000563118.1",
"protein_id": "ENSP00000454654.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": null,
"cds_end": null,
"cds_length": 907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563118.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"hgvs_c": "n.*93A>T",
"hgvs_p": null,
"transcript": "ENST00000568407.2",
"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": "ENST00000568407.2"
}
],
"gene_symbol": "SEZ6L2",
"gene_hgnc_id": 30844,
"dbsnp": "rs557575227",
"frequency_reference_population": 0.0000019370234,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 7.16044e-7,
"gnomad_genomes_af": 0.0000131401,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07718425989151001,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.209,
"revel_prediction": "Benign",
"alphamissense_score": 0.2622,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.701,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_001243332.2",
"gene_symbol": "SEZ6L2",
"hgnc_id": 30844,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2099A>T",
"hgvs_p": "p.Gln700Leu"
}
],
"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
}