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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: 10-114297016-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114297016&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 114297016,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001287824.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2392G>A",
"hgvs_p": "p.Val798Met",
"transcript": "NM_001001936.3",
"protein_id": "NP_001001936.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 818,
"cds_start": 2392,
"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": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2392G>A",
"hgvs_p": "p.Val798Met",
"transcript": "ENST00000304129.9",
"protein_id": "ENSP00000303042.4",
"transcript_support_level": 1,
"aa_start": 798,
"aa_end": null,
"aa_length": 818,
"cds_start": 2392,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2380G>A",
"hgvs_p": "p.Val794Met",
"transcript": "ENST00000369271.7",
"protein_id": "ENSP00000358276.3",
"transcript_support_level": 1,
"aa_start": 794,
"aa_end": null,
"aa_length": 814,
"cds_start": 2380,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2623G>A",
"hgvs_p": "p.Val875Met",
"transcript": "ENST00000941481.1",
"protein_id": "ENSP00000611540.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 895,
"cds_start": 2623,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2551G>A",
"hgvs_p": "p.Val851Met",
"transcript": "NM_001287824.2",
"protein_id": "NP_001274753.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 871,
"cds_start": 2551,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2548G>A",
"hgvs_p": "p.Val850Met",
"transcript": "ENST00000853964.1",
"protein_id": "ENSP00000524023.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 870,
"cds_start": 2548,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2539G>A",
"hgvs_p": "p.Val847Met",
"transcript": "ENST00000853966.1",
"protein_id": "ENSP00000524025.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 867,
"cds_start": 2539,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2530G>A",
"hgvs_p": "p.Val844Met",
"transcript": "ENST00000853965.1",
"protein_id": "ENSP00000524024.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 864,
"cds_start": 2530,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2476G>A",
"hgvs_p": "p.Val826Met",
"transcript": "NM_001351065.2",
"protein_id": "NP_001337994.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 846,
"cds_start": 2476,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2476G>A",
"hgvs_p": "p.Val826Met",
"transcript": "ENST00000941480.1",
"protein_id": "ENSP00000611539.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 846,
"cds_start": 2476,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Val825Met",
"transcript": "NM_001351077.2",
"protein_id": "NP_001338006.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 845,
"cds_start": 2473,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2473G>A",
"hgvs_p": "p.Val825Met",
"transcript": "ENST00000853967.1",
"protein_id": "ENSP00000524026.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 845,
"cds_start": 2473,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2464G>A",
"hgvs_p": "p.Val822Met",
"transcript": "NM_001351078.2",
"protein_id": "NP_001338007.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 842,
"cds_start": 2464,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2464G>A",
"hgvs_p": "p.Val822Met",
"transcript": "ENST00000696688.1",
"protein_id": "ENSP00000512810.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 842,
"cds_start": 2464,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2461G>A",
"hgvs_p": "p.Val821Met",
"transcript": "NM_001351079.2",
"protein_id": "NP_001338008.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 841,
"cds_start": 2461,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2443G>A",
"hgvs_p": "p.Val815Met",
"transcript": "NM_001351067.2",
"protein_id": "NP_001337996.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 835,
"cds_start": 2443,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2434G>A",
"hgvs_p": "p.Val812Met",
"transcript": "NM_001351068.2",
"protein_id": "NP_001337997.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 832,
"cds_start": 2434,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2431G>A",
"hgvs_p": "p.Val811Met",
"transcript": "NM_001351064.2",
"protein_id": "NP_001337993.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 831,
"cds_start": 2431,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2389G>A",
"hgvs_p": "p.Val797Met",
"transcript": "NM_001351069.2",
"protein_id": "NP_001337998.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 817,
"cds_start": 2389,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2389G>A",
"hgvs_p": "p.Val797Met",
"transcript": "ENST00000853960.1",
"protein_id": "ENSP00000524019.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 817,
"cds_start": 2389,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2380G>A",
"hgvs_p": "p.Val794Met",
"transcript": "NM_032550.4",
"protein_id": "NP_115939.1",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 814,
"cds_start": 2380,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2377G>A",
"hgvs_p": "p.Val793Met",
"transcript": "NM_001351074.2",
"protein_id": "NP_001338003.1",
"transcript_support_level": null,
"aa_start": 793,
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{
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},
{
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"protein_coding": true,
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],
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"gene_symbol": "AFAP1L2",
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"hgvs_c": "c.1876G>A",
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"transcript": "XM_047425875.1",
"protein_id": "XP_047281831.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
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"missense_variant"
],
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"exon_count": 19,
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"gene_symbol": "AFAP1L2",
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"hgvs_c": "c.1975G>A",
"hgvs_p": "p.Val659Met",
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"protein_id": "XP_016872319.1",
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"biotype": "protein_coding",
"feature": "XM_017016830.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 6,
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"gene_symbol": "AFAP1L2",
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"hgvs_c": "n.1514G>A",
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"transcript": "ENST00000491814.1",
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"biotype": "pseudogene",
"feature": "ENST00000491814.1"
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],
"gene_symbol": "AFAP1L2",
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"dbsnp": "rs201700224",
"frequency_reference_population": 0.000033453933,
"hom_count_reference_population": 1,
"allele_count_reference_population": 54,
"gnomad_exomes_af": 0.00002873,
"gnomad_genomes_af": 0.0000788063,
"gnomad_exomes_ac": 42,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.040919989347457886,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.148,
"revel_prediction": "Benign",
"alphamissense_score": 0.0521,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.746,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001287824.2",
"gene_symbol": "AFAP1L2",
"hgnc_id": 25901,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2551G>A",
"hgvs_p": "p.Val851Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}