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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: 10-114297398-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114297398&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 114297398,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001287824.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2129C>T",
"hgvs_p": "p.Ala710Val",
"transcript": "NM_001001936.3",
"protein_id": "NP_001001936.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 818,
"cds_start": 2129,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304129.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001936.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2129C>T",
"hgvs_p": "p.Ala710Val",
"transcript": "ENST00000304129.9",
"protein_id": "ENSP00000303042.4",
"transcript_support_level": 1,
"aa_start": 710,
"aa_end": null,
"aa_length": 818,
"cds_start": 2129,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001001936.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304129.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2129C>T",
"hgvs_p": "p.Ala710Val",
"transcript": "ENST00000369271.7",
"protein_id": "ENSP00000358276.3",
"transcript_support_level": 1,
"aa_start": 710,
"aa_end": null,
"aa_length": 814,
"cds_start": 2129,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369271.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2372C>T",
"hgvs_p": "p.Ala791Val",
"transcript": "ENST00000941481.1",
"protein_id": "ENSP00000611540.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 895,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941481.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2288C>T",
"hgvs_p": "p.Ala763Val",
"transcript": "NM_001287824.2",
"protein_id": "NP_001274753.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 871,
"cds_start": 2288,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287824.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2285C>T",
"hgvs_p": "p.Ala762Val",
"transcript": "ENST00000853964.1",
"protein_id": "ENSP00000524023.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 870,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853964.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2288C>T",
"hgvs_p": "p.Ala763Val",
"transcript": "ENST00000853966.1",
"protein_id": "ENSP00000524025.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 867,
"cds_start": 2288,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853966.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2267C>T",
"hgvs_p": "p.Ala756Val",
"transcript": "ENST00000853965.1",
"protein_id": "ENSP00000524024.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 864,
"cds_start": 2267,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853965.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2213C>T",
"hgvs_p": "p.Ala738Val",
"transcript": "NM_001351065.2",
"protein_id": "NP_001337994.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 846,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351065.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2213C>T",
"hgvs_p": "p.Ala738Val",
"transcript": "ENST00000941480.1",
"protein_id": "ENSP00000611539.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 846,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941480.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2210C>T",
"hgvs_p": "p.Ala737Val",
"transcript": "NM_001351077.2",
"protein_id": "NP_001338006.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 845,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351077.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2210C>T",
"hgvs_p": "p.Ala737Val",
"transcript": "ENST00000853967.1",
"protein_id": "ENSP00000524026.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 845,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853967.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2213C>T",
"hgvs_p": "p.Ala738Val",
"transcript": "NM_001351078.2",
"protein_id": "NP_001338007.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 842,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351078.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2213C>T",
"hgvs_p": "p.Ala738Val",
"transcript": "ENST00000696688.1",
"protein_id": "ENSP00000512810.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 842,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696688.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2210C>T",
"hgvs_p": "p.Ala737Val",
"transcript": "NM_001351079.2",
"protein_id": "NP_001338008.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 841,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351079.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2180C>T",
"hgvs_p": "p.Ala727Val",
"transcript": "NM_001351067.2",
"protein_id": "NP_001337996.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 835,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351067.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2183C>T",
"hgvs_p": "p.Ala728Val",
"transcript": "NM_001351068.2",
"protein_id": "NP_001337997.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 832,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351068.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2180C>T",
"hgvs_p": "p.Ala727Val",
"transcript": "NM_001351064.2",
"protein_id": "NP_001337993.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 831,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351064.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ala709Val",
"transcript": "NM_001351069.2",
"protein_id": "NP_001337998.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 817,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351069.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ala709Val",
"transcript": "ENST00000853960.1",
"protein_id": "ENSP00000524019.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 817,
"cds_start": 2126,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853960.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2129C>T",
"hgvs_p": "p.Ala710Val",
"transcript": "NM_032550.4",
"protein_id": "NP_115939.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 814,
"cds_start": 2129,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032550.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2126C>T",
"hgvs_p": "p.Ala709Val",
"transcript": "NM_001351074.2",
"protein_id": "NP_001338003.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
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"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.1958C>T",
"hgvs_p": "p.Ala653Val",
"transcript": "XM_047425874.1",
"protein_id": "XP_047281830.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 757,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425874.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.1613C>T",
"hgvs_p": "p.Ala538Val",
"transcript": "XM_047425875.1",
"protein_id": "XP_047281831.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 686,
"cds_start": 1613,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425875.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.1712C>T",
"hgvs_p": "p.Ala571Val",
"transcript": "XM_017016830.2",
"protein_id": "XP_016872319.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 679,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016830.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "n.1251C>T",
"hgvs_p": null,
"transcript": "ENST00000491814.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491814.1"
}
],
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"dbsnp": "rs752318393",
"frequency_reference_population": 0.000037205056,
"hom_count_reference_population": 0,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.0000362865,
"gnomad_genomes_af": 0.0000460266,
"gnomad_exomes_ac": 53,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16125094890594482,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": 0.0888,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.64,
"phylop100way_prediction": "Benign",
"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_001287824.2",
"gene_symbol": "AFAP1L2",
"hgnc_id": 25901,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2288C>T",
"hgvs_p": "p.Ala763Val"
}
],
"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
}