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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 18-46084572-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46084572&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 46084572,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004046.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1512T>G",
"hgvs_p": "p.Ile504Met",
"transcript": "NM_004046.6",
"protein_id": "NP_004037.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 553,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398752.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004046.6"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1512T>G",
"hgvs_p": "p.Ile504Met",
"transcript": "ENST00000398752.11",
"protein_id": "ENSP00000381736.5",
"transcript_support_level": 1,
"aa_start": 504,
"aa_end": null,
"aa_length": 553,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004046.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398752.11"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1512T>G",
"hgvs_p": "p.Ile504Met",
"transcript": "NM_001001937.2",
"protein_id": "NP_001001937.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 553,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001937.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1512T>G",
"hgvs_p": "p.Ile504Met",
"transcript": "ENST00000282050.6",
"protein_id": "ENSP00000282050.2",
"transcript_support_level": 5,
"aa_start": 504,
"aa_end": null,
"aa_length": 553,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282050.6"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1494T>G",
"hgvs_p": "p.Ile498Met",
"transcript": "ENST00000858814.1",
"protein_id": "ENSP00000528873.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 547,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858814.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1488T>G",
"hgvs_p": "p.Ile496Met",
"transcript": "ENST00000966007.1",
"protein_id": "ENSP00000636066.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 545,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966007.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1482T>G",
"hgvs_p": "p.Ile494Met",
"transcript": "ENST00000939704.1",
"protein_id": "ENSP00000609763.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 543,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939704.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1446T>G",
"hgvs_p": "p.Ile482Met",
"transcript": "NM_001257334.2",
"protein_id": "NP_001244263.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 531,
"cds_start": 1446,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257334.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1446T>G",
"hgvs_p": "p.Ile482Met",
"transcript": "ENST00000590665.5",
"protein_id": "ENSP00000467037.1",
"transcript_support_level": 2,
"aa_start": 482,
"aa_end": null,
"aa_length": 531,
"cds_start": 1446,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590665.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1422T>G",
"hgvs_p": "p.Ile474Met",
"transcript": "ENST00000858818.1",
"protein_id": "ENSP00000528877.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 523,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858818.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"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": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1404T>G",
"hgvs_p": "p.Ile468Met",
"transcript": "ENST00000858812.1",
"protein_id": "ENSP00000528871.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 517,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858812.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1386T>G",
"hgvs_p": "p.Ile462Met",
"transcript": "ENST00000858817.1",
"protein_id": "ENSP00000528876.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 511,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858817.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1362T>G",
"hgvs_p": "p.Ile454Met",
"transcript": "NM_001001935.3",
"protein_id": "NP_001001935.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 503,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001935.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1362T>G",
"hgvs_p": "p.Ile454Met",
"transcript": "NM_001257335.2",
"protein_id": "NP_001244264.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 503,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257335.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1362T>G",
"hgvs_p": "p.Ile454Met",
"transcript": "ENST00000593152.6",
"protein_id": "ENSP00000465477.2",
"transcript_support_level": 2,
"aa_start": 454,
"aa_end": null,
"aa_length": 503,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593152.6"
},
{
"aa_ref": "I",
"aa_alt": "M",
"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": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1338T>G",
"hgvs_p": "p.Ile446Met",
"transcript": "ENST00000858815.1",
"protein_id": "ENSP00000528874.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 495,
"cds_start": 1338,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858815.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"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": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1263T>G",
"hgvs_p": "p.Ile421Met",
"transcript": "ENST00000939706.1",
"protein_id": "ENSP00000609765.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 470,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939706.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"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": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.1089T>G",
"hgvs_p": "p.Ile363Met",
"transcript": "ENST00000858816.1",
"protein_id": "ENSP00000528875.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 412,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858816.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"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": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.924T>G",
"hgvs_p": "p.Ile308Met",
"transcript": "ENST00000858813.1",
"protein_id": "ENSP00000528872.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 357,
"cds_start": 924,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858813.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "c.396T>G",
"hgvs_p": "p.Ile132Met",
"transcript": "ENST00000939705.1",
"protein_id": "ENSP00000609764.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 181,
"cds_start": 396,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "n.4125T>G",
"hgvs_p": null,
"transcript": "ENST00000586523.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "retained_intron",
"feature": "ENST00000586523.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "n.*1575T>G",
"hgvs_p": null,
"transcript": "ENST00000586592.5",
"protein_id": "ENSP00000466275.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000586592.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "n.426T>G",
"hgvs_p": null,
"transcript": "ENST00000587902.1",
"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": "retained_intron",
"feature": "ENST00000587902.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "n.*1408T>G",
"hgvs_p": null,
"transcript": "ENST00000590156.5",
"protein_id": "ENSP00000466309.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000590156.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "n.*1575T>G",
"hgvs_p": null,
"transcript": "ENST00000586592.5",
"protein_id": "ENSP00000466275.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000586592.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"hgvs_c": "n.*1408T>G",
"hgvs_p": null,
"transcript": "ENST00000590156.5",
"protein_id": "ENSP00000466309.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000590156.5"
}
],
"gene_symbol": "ATP5F1A",
"gene_hgnc_id": 823,
"dbsnp": "rs753837503",
"frequency_reference_population": 0.000008900208,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000890021,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8780132532119751,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.796,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.71,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.808,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004046.6",
"gene_symbol": "ATP5F1A",
"hgnc_id": 823,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.1512T>G",
"hgvs_p": "p.Ile504Met"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}