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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: 11-43330041-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=43330041&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 43330041,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001142930.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Ala402Thr",
"transcript": "NM_001142930.2",
"protein_id": "NP_001136402.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 524,
"cds_start": 1204,
"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": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Ala402Thr",
"transcript": "ENST00000531273.6",
"protein_id": "ENSP00000431391.1",
"transcript_support_level": 2,
"aa_start": 402,
"aa_end": null,
"aa_length": 524,
"cds_start": 1204,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Ala402Thr",
"transcript": "ENST00000378852.7",
"protein_id": "ENSP00000368129.3",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 504,
"cds_start": 1204,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Ala391Thr",
"transcript": "ENST00000455725.6",
"protein_id": "ENSP00000399341.2",
"transcript_support_level": 2,
"aa_start": 391,
"aa_end": null,
"aa_length": 513,
"cds_start": 1171,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Ala402Thr",
"transcript": "ENST00000534600.5",
"protein_id": "ENSP00000434462.1",
"transcript_support_level": 5,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Ala402Thr",
"transcript": "ENST00000931881.1",
"protein_id": "ENSP00000601940.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 507,
"cds_start": 1204,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Ala402Thr",
"transcript": "ENST00000866290.1",
"protein_id": "ENSP00000536349.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 505,
"cds_start": 1204,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Ala402Thr",
"transcript": "NM_006595.4",
"protein_id": "NP_006586.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 504,
"cds_start": 1204,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Ala402Thr",
"transcript": "ENST00000866295.1",
"protein_id": "ENSP00000536354.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 495,
"cds_start": 1204,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Ala371Thr",
"transcript": "ENST00000866292.1",
"protein_id": "ENSP00000536351.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 493,
"cds_start": 1111,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Ala358Thr",
"transcript": "ENST00000866291.1",
"protein_id": "ENSP00000536350.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 480,
"cds_start": 1072,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Ala348Thr",
"transcript": "ENST00000866294.1",
"protein_id": "ENSP00000536353.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 470,
"cds_start": 1042,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "ENST00000949751.1",
"protein_id": "ENSP00000619810.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 459,
"cds_start": 1009,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Ala348Thr",
"transcript": "NM_001142931.2",
"protein_id": "NP_001136403.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 450,
"cds_start": 1042,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Ala348Thr",
"transcript": "ENST00000420461.6",
"protein_id": "ENSP00000402540.2",
"transcript_support_level": 2,
"aa_start": 348,
"aa_end": null,
"aa_length": 450,
"cds_start": 1042,
"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": "A",
"aa_alt": "T",
"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.1204G>A",
"hgvs_p": "p.Ala402Thr",
"transcript": "ENST00000866293.1",
"protein_id": "ENSP00000536352.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 432,
"cds_start": 1204,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Ala229Thr",
"transcript": "NM_001243747.2",
"protein_id": "NP_001230676.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 331,
"cds_start": 685,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.649G>A",
"hgvs_p": "p.Ala217Thr",
"transcript": "ENST00000526394.1",
"protein_id": "ENSP00000436436.1",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 293,
"cds_start": 649,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Ala402Thr",
"transcript": "XM_006718359.5",
"protein_id": "XP_006718422.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 509,
"cds_start": 1204,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "c.750+6405G>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.232-10183G>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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "n.56G>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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "n.1398G>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": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254907",
"gene_hgnc_id": null,
"hgvs_c": "n.197-703C>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"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254907",
"gene_hgnc_id": null,
"hgvs_c": "n.75-703C>T",
"hgvs_p": null,
"transcript": "ENST00000842420.1",
"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": "ENST00000842420.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"hgvs_c": "n.-192G>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"
}
],
"gene_symbol": "API5",
"gene_hgnc_id": 594,
"dbsnp": "rs771993736",
"frequency_reference_population": 0.0000041056182,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410562,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41330745816230774,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.16,
"revel_prediction": "Benign",
"alphamissense_score": 0.2064,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001142930.2",
"gene_symbol": "API5",
"hgnc_id": 594,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Ala402Thr"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000526220.2",
"gene_symbol": "ENSG00000254907",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.197-703C>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
}