← 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: X-130136693-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=130136693&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AIFM1",
"hgnc_id": 8768,
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Ile",
"inheritance_mode": "XL",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_004208.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000286650",
"hgnc_id": null,
"hgvs_c": "n.186-12866C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000830747.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RAB33A",
"hgnc_id": 9773,
"hgvs_c": "c.30+19308C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "XM_017029963.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.1008,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Charcot-Marie-Tooth Neuropathy X,Combined oxidative phosphorylation deficiency,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3369722068309784,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 613,
"aa_ref": "V",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_004208.4",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000287295.8",
"protein_coding": true,
"protein_id": "NP_004199.1",
"strand": false,
"transcript": "NM_004208.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 613,
"aa_ref": "V",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000287295.8",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004208.4",
"protein_coding": true,
"protein_id": "ENSP00000287295.3",
"strand": false,
"transcript": "ENST00000287295.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 622,
"aa_ref": "V",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000675092.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501772.1",
"strand": false,
"transcript": "ENST00000675092.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 611,
"aa_ref": "V",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000319908.8",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Val371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000315122.4",
"strand": false,
"transcript": "ENST00000319908.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 274,
"aa_ref": "V",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 825,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000460436.6",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.97G>A",
"hgvs_p": "p.Val33Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431222.1",
"strand": false,
"transcript": "ENST00000460436.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 324,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": null,
"cds_end": null,
"cds_length": 975,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000535724.6",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.*342G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446113.2",
"strand": false,
"transcript": "ENST00000535724.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2061,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000416073.7",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.1108G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000402535.3",
"strand": false,
"transcript": "ENST00000416073.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 613,
"aa_ref": "V",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2097,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000903846.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573905.1",
"strand": false,
"transcript": "ENST00000903846.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 612,
"aa_ref": "V",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000675427.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501880.1",
"strand": false,
"transcript": "ENST00000675427.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 612,
"aa_ref": "V",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000676328.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Val371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502068.1",
"strand": false,
"transcript": "ENST00000676328.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 611,
"aa_ref": "V",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1108,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000675857.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Val370Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502721.1",
"strand": false,
"transcript": "ENST00000675857.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 609,
"aa_ref": "V",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1102,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_145812.3",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1102G>A",
"hgvs_p": "p.Val368Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_665811.1",
"strand": false,
"transcript": "NM_145812.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 609,
"aa_ref": "V",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 1325,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1102,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000676229.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1102G>A",
"hgvs_p": "p.Val368Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502184.1",
"strand": false,
"transcript": "ENST00000676229.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 609,
"aa_ref": "V",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1102,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000676436.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1102G>A",
"hgvs_p": "p.Val368Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502669.1",
"strand": false,
"transcript": "ENST00000676436.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 600,
"aa_ref": "V",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000903845.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573904.1",
"strand": false,
"transcript": "ENST00000903845.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 589,
"aa_ref": "V",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000674546.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501950.1",
"strand": false,
"transcript": "ENST00000674546.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 565,
"aa_ref": "V",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000675240.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501907.1",
"strand": false,
"transcript": "ENST00000675240.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 326,
"aa_ref": "V",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1200,
"cdna_start": 277,
"cds_end": null,
"cds_length": 981,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000346424.6",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Val85Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000316320.3",
"strand": false,
"transcript": "ENST00000346424.6",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 274,
"aa_ref": "V",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 825,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001130846.4",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.97G>A",
"hgvs_p": "p.Val33Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124318.2",
"strand": false,
"transcript": "NM_001130846.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 228,
"aa_ref": "V",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 711,
"cdna_start": 102,
"cds_end": null,
"cds_length": 687,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000674601.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Val34Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502764.1",
"strand": false,
"transcript": "ENST00000674601.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 324,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2425,
"cdna_start": null,
"cds_end": null,
"cds_length": 975,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001130847.4",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.*342G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124319.1",
"strand": false,
"transcript": "NM_001130847.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 464,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": null,
"cds_end": null,
"cds_length": 1395,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000921976.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.858+3102G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592035.1",
"strand": false,
"transcript": "ENST00000921976.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 410,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1487,
"cdna_start": null,
"cds_end": null,
"cds_length": 1233,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903847.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "c.697-3238G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573906.1",
"strand": false,
"transcript": "ENST00000903847.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 161,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 807,
"cdna_start": null,
"cds_end": null,
"cds_length": 486,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017029963.3",
"gene_hgnc_id": 9773,
"gene_symbol": "RAB33A",
"hgvs_c": "c.30+19308C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885452.1",
"strand": true,
"transcript": "XM_017029963.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000527892.5",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.*1042G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435955.1",
"strand": false,
"transcript": "ENST00000527892.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1465,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000533719.2",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.906G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000533719.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000674555.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.*849G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502183.1",
"strand": false,
"transcript": "ENST00000674555.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000674722.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.*282G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501693.1",
"strand": false,
"transcript": "ENST00000674722.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2434,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000674957.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.814G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501985.1",
"strand": false,
"transcript": "ENST00000674957.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000674997.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.*839G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502124.1",
"strand": false,
"transcript": "ENST00000674997.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000675015.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.996G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000675015.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000675037.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.1114G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501724.1",
"strand": false,
"transcript": "ENST00000675037.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3083,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000675050.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.1102G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502606.1",
"strand": false,
"transcript": "ENST00000675050.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1920,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675111.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.1039G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000675111.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5137,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000676048.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.4236G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000676048.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 917,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000676144.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.*705G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501890.1",
"strand": false,
"transcript": "ENST00000676144.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NR_132647.2",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.1359G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_132647.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000527892.5",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.*1042G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435955.1",
"strand": false,
"transcript": "ENST00000527892.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000674555.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.*849G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502183.1",
"strand": false,
"transcript": "ENST00000674555.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000674722.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.*282G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501693.1",
"strand": false,
"transcript": "ENST00000674722.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000674997.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.*839G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502124.1",
"strand": false,
"transcript": "ENST00000674997.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 917,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000676144.1",
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"hgvs_c": "n.*705G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501890.1",
"strand": false,
"transcript": "ENST00000676144.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 498,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000830747.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000286650",
"hgvs_c": "n.186-12866C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000830747.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1056740593",
"effect": "missense_variant",
"frequency_reference_population": 0.0000045540287,
"gene_hgnc_id": 8768,
"gene_symbol": "AIFM1",
"gnomad_exomes_ac": 5,
"gnomad_exomes_af": 0.00000455403,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Combined oxidative phosphorylation deficiency;Charcot-Marie-Tooth Neuropathy X|Inborn genetic diseases|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.104,
"pos": 130136693,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.082,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_004208.4"
}
]
}