← 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: 10-70115078-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=70115078&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 70115078,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032797.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "NM_032797.6",
"protein_id": "NP_116186.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307864.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032797.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000307864.3",
"protein_id": "ENSP00000312370.1",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032797.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307864.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000373248.5",
"protein_id": "ENSP00000362345.1",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373248.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.1046A>C",
"hgvs_p": "p.His349Pro",
"transcript": "ENST00000856761.1",
"protein_id": "ENSP00000526820.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 451,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856761.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.1046A>C",
"hgvs_p": "p.His349Pro",
"transcript": "ENST00000959270.1",
"protein_id": "ENSP00000629329.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 451,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959270.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.854A>C",
"hgvs_p": "p.His285Pro",
"transcript": "ENST00000959267.1",
"protein_id": "ENSP00000629326.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 387,
"cds_start": 854,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959267.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.854A>C",
"hgvs_p": "p.His285Pro",
"transcript": "ENST00000959269.1",
"protein_id": "ENSP00000629328.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 387,
"cds_start": 854,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959269.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "NM_001198696.2",
"protein_id": "NP_001185625.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198696.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000613322.4",
"protein_id": "ENSP00000478931.1",
"transcript_support_level": 5,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613322.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856741.1",
"protein_id": "ENSP00000526800.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856741.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856742.1",
"protein_id": "ENSP00000526801.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856742.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856743.1",
"protein_id": "ENSP00000526802.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856743.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856744.1",
"protein_id": "ENSP00000526803.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856744.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856745.1",
"protein_id": "ENSP00000526804.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856745.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856746.1",
"protein_id": "ENSP00000526805.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856746.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856747.1",
"protein_id": "ENSP00000526806.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856747.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856748.1",
"protein_id": "ENSP00000526807.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856748.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856750.1",
"protein_id": "ENSP00000526809.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856750.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856751.1",
"protein_id": "ENSP00000526810.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856751.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856752.1",
"protein_id": "ENSP00000526811.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856752.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856754.1",
"protein_id": "ENSP00000526813.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856754.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856755.1",
"protein_id": "ENSP00000526814.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856755.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856756.1",
"protein_id": "ENSP00000526815.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856756.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856758.1",
"protein_id": "ENSP00000526817.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856758.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856759.1",
"protein_id": "ENSP00000526818.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856759.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856762.1",
"protein_id": "ENSP00000526821.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856762.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856764.1",
"protein_id": "ENSP00000526823.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856764.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856765.1",
"protein_id": "ENSP00000526824.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856765.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000856766.1",
"protein_id": "ENSP00000526825.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856766.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000924430.1",
"protein_id": "ENSP00000594489.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924430.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000924432.1",
"protein_id": "ENSP00000594491.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924432.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000959255.1",
"protein_id": "ENSP00000629314.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959255.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000959256.1",
"protein_id": "ENSP00000629315.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959256.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000959258.1",
"protein_id": "ENSP00000629317.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959258.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000959260.1",
"protein_id": "ENSP00000629319.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959260.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000959261.1",
"protein_id": "ENSP00000629320.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959261.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000959262.1",
"protein_id": "ENSP00000629321.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959262.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000959263.1",
"protein_id": "ENSP00000629322.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959263.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000959264.1",
"protein_id": "ENSP00000629323.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959264.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000959265.1",
"protein_id": "ENSP00000629324.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959265.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000959271.1",
"protein_id": "ENSP00000629330.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959271.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000959272.1",
"protein_id": "ENSP00000629331.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959272.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000959274.1",
"protein_id": "ENSP00000629333.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959274.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000959275.1",
"protein_id": "ENSP00000629334.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959275.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000959276.1",
"protein_id": "ENSP00000629335.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959276.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro",
"transcript": "ENST00000959277.1",
"protein_id": "ENSP00000629336.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 373,
"cds_start": 812,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959277.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.806A>C",
"hgvs_p": "p.His269Pro",
"transcript": "ENST00000856760.1",
"protein_id": "ENSP00000526819.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 371,
"cds_start": 806,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856760.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.692A>C",
"hgvs_p": "p.His231Pro",
"transcript": "ENST00000856749.1",
"protein_id": "ENSP00000526808.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 333,
"cds_start": 692,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856749.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.692A>C",
"hgvs_p": "p.His231Pro",
"transcript": "ENST00000856753.1",
"protein_id": "ENSP00000526812.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 333,
"cds_start": 692,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856753.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.692A>C",
"hgvs_p": "p.His231Pro",
"transcript": "ENST00000856757.1",
"protein_id": "ENSP00000526816.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 333,
"cds_start": 692,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856757.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.692A>C",
"hgvs_p": "p.His231Pro",
"transcript": "ENST00000856763.1",
"protein_id": "ENSP00000526822.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 333,
"cds_start": 692,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856763.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.692A>C",
"hgvs_p": "p.His231Pro",
"transcript": "ENST00000924431.1",
"protein_id": "ENSP00000594490.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 333,
"cds_start": 692,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924431.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.692A>C",
"hgvs_p": "p.His231Pro",
"transcript": "ENST00000959259.1",
"protein_id": "ENSP00000629318.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 333,
"cds_start": 692,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959259.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.692A>C",
"hgvs_p": "p.His231Pro",
"transcript": "ENST00000959266.1",
"protein_id": "ENSP00000629325.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 333,
"cds_start": 692,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959266.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.692A>C",
"hgvs_p": "p.His231Pro",
"transcript": "ENST00000959268.1",
"protein_id": "ENSP00000629327.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 333,
"cds_start": 692,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959268.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.770-749A>C",
"hgvs_p": null,
"transcript": "ENST00000959257.1",
"protein_id": "ENSP00000629316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": null,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959257.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "c.770-749A>C",
"hgvs_p": null,
"transcript": "ENST00000959273.1",
"protein_id": "ENSP00000629332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": null,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959273.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"hgvs_c": "n.649A>C",
"hgvs_p": null,
"transcript": "ENST00000482166.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000482166.1"
}
],
"gene_symbol": "AIFM2",
"gene_hgnc_id": 21411,
"dbsnp": "rs1564550810",
"frequency_reference_population": 6.8415363e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84154e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.47513532638549805,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.166,
"revel_prediction": "Benign",
"alphamissense_score": 0.8957,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.629,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032797.6",
"gene_symbol": "AIFM2",
"hgnc_id": 21411,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.812A>C",
"hgvs_p": "p.His271Pro"
}
],
"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
}