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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: 3-128899450-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128899450&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 128899450,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014049.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"transcript": "NM_014049.5",
"protein_id": "NP_054768.2",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 621,
"cds_start": 797,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308982.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014049.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"transcript": "ENST00000308982.12",
"protein_id": "ENSP00000312618.7",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 621,
"cds_start": 797,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014049.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308982.12"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.298G>A",
"hgvs_p": null,
"transcript": "ENST00000511526.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000511526.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"transcript": "ENST00000681367.1",
"protein_id": "ENSP00000505309.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 643,
"cds_start": 797,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681367.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"transcript": "ENST00000680636.1",
"protein_id": "ENSP00000504886.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 626,
"cds_start": 797,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680636.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"transcript": "ENST00000897730.1",
"protein_id": "ENSP00000567789.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 626,
"cds_start": 797,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897730.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"transcript": "ENST00000897729.1",
"protein_id": "ENSP00000567788.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 620,
"cds_start": 797,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897729.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"transcript": "ENST00000959715.1",
"protein_id": "ENSP00000629774.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 619,
"cds_start": 797,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959715.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"transcript": "ENST00000897731.1",
"protein_id": "ENSP00000567790.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 615,
"cds_start": 797,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897731.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"transcript": "ENST00000897732.1",
"protein_id": "ENSP00000567791.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 615,
"cds_start": 797,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897732.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"transcript": "ENST00000897734.1",
"protein_id": "ENSP00000567793.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 595,
"cds_start": 797,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897734.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.701G>A",
"hgvs_p": "p.Arg234Gln",
"transcript": "ENST00000926997.1",
"protein_id": "ENSP00000597056.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 589,
"cds_start": 701,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926997.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"transcript": "ENST00000926996.1",
"protein_id": "ENSP00000597055.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 578,
"cds_start": 797,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926996.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"transcript": "ENST00000959716.1",
"protein_id": "ENSP00000629775.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 578,
"cds_start": 797,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959716.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.617G>A",
"hgvs_p": "p.Arg206Gln",
"transcript": "ENST00000897733.1",
"protein_id": "ENSP00000567792.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 561,
"cds_start": 617,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897733.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Arg143Gln",
"transcript": "NM_001410805.1",
"protein_id": "NP_001397734.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 498,
"cds_start": 428,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410805.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Arg143Gln",
"transcript": "ENST00000679715.1",
"protein_id": "ENSP00000506228.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 498,
"cds_start": 428,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679715.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"transcript": "ENST00000681552.1",
"protein_id": "ENSP00000505699.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 388,
"cds_start": 797,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681552.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Arg143Gln",
"transcript": "XM_024453484.2",
"protein_id": "XP_024309252.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 498,
"cds_start": 428,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453484.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*493G>A",
"hgvs_p": null,
"transcript": "ENST00000505192.5",
"protein_id": "ENSP00000426277.1",
"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": "ENST00000505192.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*597G>A",
"hgvs_p": null,
"transcript": "ENST00000505867.5",
"protein_id": "ENSP00000425346.1",
"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": "ENST00000505867.5"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.86G>A",
"hgvs_p": null,
"transcript": "ENST00000508971.1",
"protein_id": "ENSP00000422683.1",
"transcript_support_level": 5,
"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,
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "ACAD9",
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"hgvs_c": "n.*2197G>A",
"hgvs_p": null,
"transcript": "ENST00000680764.1",
"protein_id": "ENSP00000505126.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000680764.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 7,
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"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*1+216G>A",
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"transcript": "ENST00000681886.1",
"protein_id": "ENSP00000506500.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681886.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*493G>A",
"hgvs_p": null,
"transcript": "ENST00000512801.5",
"protein_id": "ENSP00000427283.1",
"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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000512801.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*493G>A",
"hgvs_p": null,
"transcript": "ENST00000514643.5",
"protein_id": "ENSP00000422020.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000514643.5"
}
],
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"dbsnp": "rs387907042",
"frequency_reference_population": 0.000013011233,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000136815,
"gnomad_genomes_af": 0.00000657177,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.904025137424469,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.935,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2606,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.47,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.122,
"phylop100way_prediction": "Pathogenic",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PM5,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PS3",
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_014049.5",
"gene_symbol": "ACAD9",
"hgnc_id": 21497,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln"
}
],
"clinvar_disease": "Acyl-CoA dehydrogenase 9 deficiency,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1",
"phenotype_combined": "Acyl-CoA dehydrogenase 9 deficiency|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}