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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: 11-43335881-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=43335881&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 43335881,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001142930.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1379C>A",
"hgvs_p": "p.Thr460Lys",
"transcript": "NM_001142930.2",
"protein_id": "NP_001136402.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 524,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000531273.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142930.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1379C>A",
"hgvs_p": "p.Thr460Lys",
"transcript": "ENST00000531273.6",
"protein_id": "ENSP00000431391.1",
"transcript_support_level": 2,
"aa_start": 460,
"aa_end": null,
"aa_length": 524,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142930.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531273.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1379C>A",
"hgvs_p": "p.Thr460Lys",
"transcript": "ENST00000378852.7",
"protein_id": "ENSP00000368129.3",
"transcript_support_level": 1,
"aa_start": 460,
"aa_end": null,
"aa_length": 504,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378852.7"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1346C>A",
"hgvs_p": "p.Thr449Lys",
"transcript": "ENST00000455725.6",
"protein_id": "ENSP00000399341.2",
"transcript_support_level": 2,
"aa_start": 449,
"aa_end": null,
"aa_length": 513,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455725.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1379C>A",
"hgvs_p": "p.Thr460Lys",
"transcript": "ENST00000534600.5",
"protein_id": "ENSP00000434462.1",
"transcript_support_level": 5,
"aa_start": 460,
"aa_end": null,
"aa_length": 510,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534600.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1328C>A",
"hgvs_p": "p.Thr443Lys",
"transcript": "ENST00000931881.1",
"protein_id": "ENSP00000601940.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 507,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931881.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1322C>A",
"hgvs_p": "p.Thr441Lys",
"transcript": "ENST00000866290.1",
"protein_id": "ENSP00000536349.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 505,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866290.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1379C>A",
"hgvs_p": "p.Thr460Lys",
"transcript": "NM_006595.4",
"protein_id": "NP_006586.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 504,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006595.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1292C>A",
"hgvs_p": "p.Thr431Lys",
"transcript": "ENST00000866295.1",
"protein_id": "ENSP00000536354.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 495,
"cds_start": 1292,
"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": "ENST00000866295.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1286C>A",
"hgvs_p": "p.Thr429Lys",
"transcript": "ENST00000866292.1",
"protein_id": "ENSP00000536351.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 493,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866292.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1247C>A",
"hgvs_p": "p.Thr416Lys",
"transcript": "ENST00000866291.1",
"protein_id": "ENSP00000536350.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 480,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866291.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1217C>A",
"hgvs_p": "p.Thr406Lys",
"transcript": "ENST00000866294.1",
"protein_id": "ENSP00000536353.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 470,
"cds_start": 1217,
"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": "ENST00000866294.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1184C>A",
"hgvs_p": "p.Thr395Lys",
"transcript": "ENST00000949751.1",
"protein_id": "ENSP00000619810.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 459,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949751.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1217C>A",
"hgvs_p": "p.Thr406Lys",
"transcript": "NM_001142931.2",
"protein_id": "NP_001136403.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 450,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142931.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1217C>A",
"hgvs_p": "p.Thr406Lys",
"transcript": "ENST00000420461.6",
"protein_id": "ENSP00000402540.2",
"transcript_support_level": 2,
"aa_start": 406,
"aa_end": null,
"aa_length": 450,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420461.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.860C>A",
"hgvs_p": "p.Thr287Lys",
"transcript": "NM_001243747.2",
"protein_id": "NP_001230676.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 331,
"cds_start": 860,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243747.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.824C>A",
"hgvs_p": "p.Thr275Lys",
"transcript": "ENST00000526394.1",
"protein_id": "ENSP00000436436.1",
"transcript_support_level": 5,
"aa_start": 275,
"aa_end": null,
"aa_length": 293,
"cds_start": 824,
"cds_end": null,
"cds_length": 883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526394.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1379C>A",
"hgvs_p": "p.Thr460Lys",
"transcript": "XM_006718359.5",
"protein_id": "XP_006718422.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 509,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718359.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1221+5823C>A",
"hgvs_p": null,
"transcript": "ENST00000866293.1",
"protein_id": "ENSP00000536352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": null,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866293.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.751-6552C>A",
"hgvs_p": null,
"transcript": "ENST00000866289.1",
"protein_id": "ENSP00000536348.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": null,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866289.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.232-4343C>A",
"hgvs_p": null,
"transcript": "ENST00000534695.5",
"protein_id": "ENSP00000436189.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": null,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534695.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "n.100C>A",
"hgvs_p": null,
"transcript": "ENST00000529334.1",
"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": "ENST00000529334.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "n.433C>A",
"hgvs_p": null,
"transcript": "ENST00000529932.1",
"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": "ENST00000529932.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "n.154C>A",
"hgvs_p": null,
"transcript": "ENST00000532267.1",
"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": "retained_intron",
"feature": "ENST00000532267.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "n.1573C>A",
"hgvs_p": null,
"transcript": "NR_024625.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_024625.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254907",
"gene_hgnc_id": null,
"hgvs_c": "n.77-549G>T",
"hgvs_p": null,
"transcript": "ENST00000526220.2",
"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": "ENST00000526220.2"
}
],
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"dbsnp": "rs772388129",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.00000548337,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13669490814208984,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.3589,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.516,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001142930.2",
"gene_symbol": "API5",
"hgnc_id": 594,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1379C>A",
"hgvs_p": "p.Thr460Lys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000526220.2",
"gene_symbol": "ENSG00000254907",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.77-549G>T",
"hgvs_p": null
}
],
"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
}