← Back to variant description
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: 10-114297351-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114297351&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 114297351,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001287824.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"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.2176G>A",
"hgvs_p": "p.Glu726Lys",
"transcript": "NM_001001936.3",
"protein_id": "NP_001001936.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 818,
"cds_start": 2176,
"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": "E",
"aa_alt": "K",
"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.2176G>A",
"hgvs_p": "p.Glu726Lys",
"transcript": "ENST00000304129.9",
"protein_id": "ENSP00000303042.4",
"transcript_support_level": 1,
"aa_start": 726,
"aa_end": null,
"aa_length": 818,
"cds_start": 2176,
"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": "E",
"aa_alt": "K",
"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.2176G>A",
"hgvs_p": "p.Glu726Lys",
"transcript": "ENST00000369271.7",
"protein_id": "ENSP00000358276.3",
"transcript_support_level": 1,
"aa_start": 726,
"aa_end": null,
"aa_length": 814,
"cds_start": 2176,
"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": "E",
"aa_alt": "K",
"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.2419G>A",
"hgvs_p": "p.Glu807Lys",
"transcript": "ENST00000941481.1",
"protein_id": "ENSP00000611540.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 895,
"cds_start": 2419,
"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": "E",
"aa_alt": "K",
"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.2335G>A",
"hgvs_p": "p.Glu779Lys",
"transcript": "NM_001287824.2",
"protein_id": "NP_001274753.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 871,
"cds_start": 2335,
"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": "E",
"aa_alt": "K",
"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.2332G>A",
"hgvs_p": "p.Glu778Lys",
"transcript": "ENST00000853964.1",
"protein_id": "ENSP00000524023.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 870,
"cds_start": 2332,
"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": "E",
"aa_alt": "K",
"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.2335G>A",
"hgvs_p": "p.Glu779Lys",
"transcript": "ENST00000853966.1",
"protein_id": "ENSP00000524025.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 867,
"cds_start": 2335,
"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": "E",
"aa_alt": "K",
"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.2314G>A",
"hgvs_p": "p.Glu772Lys",
"transcript": "ENST00000853965.1",
"protein_id": "ENSP00000524024.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 864,
"cds_start": 2314,
"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": "E",
"aa_alt": "K",
"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.2260G>A",
"hgvs_p": "p.Glu754Lys",
"transcript": "NM_001351065.2",
"protein_id": "NP_001337994.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 846,
"cds_start": 2260,
"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": "E",
"aa_alt": "K",
"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.2260G>A",
"hgvs_p": "p.Glu754Lys",
"transcript": "ENST00000941480.1",
"protein_id": "ENSP00000611539.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 846,
"cds_start": 2260,
"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": "E",
"aa_alt": "K",
"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.2257G>A",
"hgvs_p": "p.Glu753Lys",
"transcript": "NM_001351077.2",
"protein_id": "NP_001338006.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 845,
"cds_start": 2257,
"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": "E",
"aa_alt": "K",
"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.2257G>A",
"hgvs_p": "p.Glu753Lys",
"transcript": "ENST00000853967.1",
"protein_id": "ENSP00000524026.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 845,
"cds_start": 2257,
"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": "E",
"aa_alt": "K",
"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.2260G>A",
"hgvs_p": "p.Glu754Lys",
"transcript": "NM_001351078.2",
"protein_id": "NP_001338007.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 842,
"cds_start": 2260,
"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": "E",
"aa_alt": "K",
"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.2260G>A",
"hgvs_p": "p.Glu754Lys",
"transcript": "ENST00000696688.1",
"protein_id": "ENSP00000512810.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 842,
"cds_start": 2260,
"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": "E",
"aa_alt": "K",
"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.2257G>A",
"hgvs_p": "p.Glu753Lys",
"transcript": "NM_001351079.2",
"protein_id": "NP_001338008.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 841,
"cds_start": 2257,
"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": "E",
"aa_alt": "K",
"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.2227G>A",
"hgvs_p": "p.Glu743Lys",
"transcript": "NM_001351067.2",
"protein_id": "NP_001337996.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 835,
"cds_start": 2227,
"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": "E",
"aa_alt": "K",
"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.2230G>A",
"hgvs_p": "p.Glu744Lys",
"transcript": "NM_001351068.2",
"protein_id": "NP_001337997.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 832,
"cds_start": 2230,
"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": "E",
"aa_alt": "K",
"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.2227G>A",
"hgvs_p": "p.Glu743Lys",
"transcript": "NM_001351064.2",
"protein_id": "NP_001337993.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 831,
"cds_start": 2227,
"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": "E",
"aa_alt": "K",
"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.2173G>A",
"hgvs_p": "p.Glu725Lys",
"transcript": "NM_001351069.2",
"protein_id": "NP_001337998.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 817,
"cds_start": 2173,
"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": "E",
"aa_alt": "K",
"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.2173G>A",
"hgvs_p": "p.Glu725Lys",
"transcript": "ENST00000853960.1",
"protein_id": "ENSP00000524019.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 817,
"cds_start": 2173,
"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": "E",
"aa_alt": "K",
"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.2176G>A",
"hgvs_p": "p.Glu726Lys",
"transcript": "NM_032550.4",
"protein_id": "NP_115939.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 814,
"cds_start": 2176,
"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": "E",
"aa_alt": "K",
"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.2173G>A",
"hgvs_p": "p.Glu725Lys",
"transcript": "NM_001351074.2",
"protein_id": "NP_001338003.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 813,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351074.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2173G>A",
"hgvs_p": "p.Glu725Lys",
"transcript": "ENST00000853961.1",
"protein_id": "ENSP00000524020.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 813,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853961.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2092G>A",
"hgvs_p": "p.Glu698Lys",
"transcript": "NM_001351071.2",
"protein_id": "NP_001338000.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 786,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351071.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2089G>A",
"hgvs_p": "p.Glu697Lys",
"transcript": "NM_001351072.2",
"protein_id": "NP_001338001.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 785,
"cds_start": 2089,
"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": "NM_001351072.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2011G>A",
"hgvs_p": "p.Glu671Lys",
"transcript": "NM_001351080.2",
"protein_id": "NP_001338009.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 763,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351080.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2011G>A",
"hgvs_p": "p.Glu671Lys",
"transcript": "NM_001351066.2",
"protein_id": "NP_001337995.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 759,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351066.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2008G>A",
"hgvs_p": "p.Glu670Lys",
"transcript": "NM_001351070.2",
"protein_id": "NP_001337999.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 758,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351070.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2005G>A",
"hgvs_p": "p.Glu669Lys",
"transcript": "NM_001351073.2",
"protein_id": "NP_001338002.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 757,
"cds_start": 2005,
"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": "NM_001351073.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.1930G>A",
"hgvs_p": "p.Glu644Lys",
"transcript": "ENST00000941479.1",
"protein_id": "ENSP00000611538.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 736,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941479.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.1927G>A",
"hgvs_p": "p.Glu643Lys",
"transcript": "NM_001351075.2",
"protein_id": "NP_001338004.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 735,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351075.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.1927G>A",
"hgvs_p": "p.Glu643Lys",
"transcript": "ENST00000853963.1",
"protein_id": "ENSP00000524022.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 735,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853963.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.1930G>A",
"hgvs_p": "p.Glu644Lys",
"transcript": "ENST00000853962.1",
"protein_id": "ENSP00000524021.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 732,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853962.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.1927G>A",
"hgvs_p": "p.Glu643Lys",
"transcript": "NM_001351076.2",
"protein_id": "NP_001338005.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 731,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351076.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.1927G>A",
"hgvs_p": "p.Glu643Lys",
"transcript": "ENST00000924811.1",
"protein_id": "ENSP00000594870.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 731,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924811.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2338G>A",
"hgvs_p": "p.Glu780Lys",
"transcript": "XM_047425853.1",
"protein_id": "XP_047281809.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 912,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425853.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2335G>A",
"hgvs_p": "p.Glu779Lys",
"transcript": "XM_047425854.1",
"protein_id": "XP_047281810.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 911,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425854.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2338G>A",
"hgvs_p": "p.Glu780Lys",
"transcript": "XM_047425855.1",
"protein_id": "XP_047281811.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 908,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425855.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2335G>A",
"hgvs_p": "p.Glu779Lys",
"transcript": "XM_047425856.1",
"protein_id": "XP_047281812.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 907,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425856.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2314G>A",
"hgvs_p": "p.Glu772Lys",
"transcript": "XM_017016795.2",
"protein_id": "XP_016872284.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 904,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016795.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2260G>A",
"hgvs_p": "p.Glu754Lys",
"transcript": "XM_017016796.2",
"protein_id": "XP_016872285.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 886,
"cds_start": 2260,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016796.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2257G>A",
"hgvs_p": "p.Glu753Lys",
"transcript": "XM_017016797.2",
"protein_id": "XP_016872286.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 885,
"cds_start": 2257,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016797.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "XM_047425857.1",
"protein_id": "XP_047281813.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 884,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425857.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2251G>A",
"hgvs_p": "p.Glu751Lys",
"transcript": "XM_047425858.1",
"protein_id": "XP_047281814.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 883,
"cds_start": 2251,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425858.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2260G>A",
"hgvs_p": "p.Glu754Lys",
"transcript": "XM_017016798.3",
"protein_id": "XP_016872287.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 882,
"cds_start": 2260,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016798.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2338G>A",
"hgvs_p": "p.Glu780Lys",
"transcript": "XM_047425859.1",
"protein_id": "XP_047281815.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 881,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425859.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2230G>A",
"hgvs_p": "p.Glu744Lys",
"transcript": "XM_005270233.5",
"protein_id": "XP_005270290.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 876,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270233.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2338G>A",
"hgvs_p": "p.Glu780Lys",
"transcript": "XM_047425860.1",
"protein_id": "XP_047281816.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 872,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425860.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2335G>A",
"hgvs_p": "p.Glu779Lys",
"transcript": "XM_047425861.1",
"protein_id": "XP_047281817.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 871,
"cds_start": 2335,
"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": "XM_047425861.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2338G>A",
"hgvs_p": "p.Glu780Lys",
"transcript": "XM_047425862.1",
"protein_id": "XP_047281818.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 868,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425862.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2335G>A",
"hgvs_p": "p.Glu779Lys",
"transcript": "XM_047425863.1",
"protein_id": "XP_047281819.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 867,
"cds_start": 2335,
"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": "XM_047425863.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2176G>A",
"hgvs_p": "p.Glu726Lys",
"transcript": "XM_005270237.6",
"protein_id": "XP_005270294.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 858,
"cds_start": 2176,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270237.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2173G>A",
"hgvs_p": "p.Glu725Lys",
"transcript": "XM_047425864.1",
"protein_id": "XP_047281820.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 857,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425864.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2176G>A",
"hgvs_p": "p.Glu726Lys",
"transcript": "XM_017016804.3",
"protein_id": "XP_016872293.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 854,
"cds_start": 2176,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016804.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2173G>A",
"hgvs_p": "p.Glu725Lys",
"transcript": "XM_047425865.1",
"protein_id": "XP_047281821.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 853,
"cds_start": 2173,
"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": "XM_047425865.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "XM_047425866.1",
"protein_id": "XP_047281822.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 844,
"cds_start": 2254,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425866.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2251G>A",
"hgvs_p": "p.Glu751Lys",
"transcript": "XM_047425867.1",
"protein_id": "XP_047281823.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 843,
"cds_start": 2251,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425867.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2254G>A",
"hgvs_p": "p.Glu752Lys",
"transcript": "XM_047425868.1",
"protein_id": "XP_047281824.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 840,
"cds_start": 2254,
"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": "XM_047425868.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2251G>A",
"hgvs_p": "p.Glu751Lys",
"transcript": "XM_047425869.1",
"protein_id": "XP_047281825.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 839,
"cds_start": 2251,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425869.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2230G>A",
"hgvs_p": "p.Glu744Lys",
"transcript": "XM_017016810.2",
"protein_id": "XP_016872299.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 836,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016810.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2092G>A",
"hgvs_p": "p.Glu698Lys",
"transcript": "XM_017016814.2",
"protein_id": "XP_016872303.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 830,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016814.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2092G>A",
"hgvs_p": "p.Glu698Lys",
"transcript": "XM_047425870.1",
"protein_id": "XP_047281826.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 830,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425870.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2011G>A",
"hgvs_p": "p.Glu671Lys",
"transcript": "XM_017016818.2",
"protein_id": "XP_016872307.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 803,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016818.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Glu663Lys",
"transcript": "XM_017016832.2",
"protein_id": "XP_016872321.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 795,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016832.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2089G>A",
"hgvs_p": "p.Glu697Lys",
"transcript": "XM_047425871.1",
"protein_id": "XP_047281827.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 789,
"cds_start": 2089,
"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": "XM_047425871.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2089G>A",
"hgvs_p": "p.Glu697Lys",
"transcript": "XM_047425872.1",
"protein_id": "XP_047281828.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 785,
"cds_start": 2089,
"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": "XM_047425872.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.1927G>A",
"hgvs_p": "p.Glu643Lys",
"transcript": "XM_047425873.1",
"protein_id": "XP_047281829.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 775,
"cds_start": 1927,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425873.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.2005G>A",
"hgvs_p": "p.Glu669Lys",
"transcript": "XM_047425874.1",
"protein_id": "XP_047281830.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 757,
"cds_start": 2005,
"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": "E",
"aa_alt": "K",
"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.1660G>A",
"hgvs_p": "p.Glu554Lys",
"transcript": "XM_047425875.1",
"protein_id": "XP_047281831.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 686,
"cds_start": 1660,
"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": "E",
"aa_alt": "K",
"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.1759G>A",
"hgvs_p": "p.Glu587Lys",
"transcript": "XM_017016830.2",
"protein_id": "XP_016872319.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 679,
"cds_start": 1759,
"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.1298G>A",
"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": "rs11599051",
"frequency_reference_population": 0.00072560756,
"hom_count_reference_population": 3,
"allele_count_reference_population": 1171,
"gnomad_exomes_af": 0.00074992,
"gnomad_genomes_af": 0.000492352,
"gnomad_exomes_ac": 1096,
"gnomad_genomes_ac": 75,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.017941802740097046,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.0994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.671,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001287824.2",
"gene_symbol": "AFAP1L2",
"hgnc_id": 25901,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2335G>A",
"hgvs_p": "p.Glu779Lys"
}
],
"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
}