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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: 3-128895320-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128895320&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 128895320,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_014049.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.359delT",
"hgvs_p": "p.Phe120fs",
"transcript": "NM_014049.5",
"protein_id": "NP_054768.2",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 621,
"cds_start": 359,
"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": "F",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.359delT",
"hgvs_p": "p.Phe120fs",
"transcript": "ENST00000308982.12",
"protein_id": "ENSP00000312618.7",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 621,
"cds_start": 359,
"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": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.359delT",
"hgvs_p": "p.Phe120fs",
"transcript": "ENST00000681367.1",
"protein_id": "ENSP00000505309.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 643,
"cds_start": 359,
"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": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.359delT",
"hgvs_p": "p.Phe120fs",
"transcript": "ENST00000680636.1",
"protein_id": "ENSP00000504886.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 626,
"cds_start": 359,
"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": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.359delT",
"hgvs_p": "p.Phe120fs",
"transcript": "ENST00000897730.1",
"protein_id": "ENSP00000567789.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 626,
"cds_start": 359,
"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": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.359delT",
"hgvs_p": "p.Phe120fs",
"transcript": "ENST00000897729.1",
"protein_id": "ENSP00000567788.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 620,
"cds_start": 359,
"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": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.359delT",
"hgvs_p": "p.Phe120fs",
"transcript": "ENST00000959715.1",
"protein_id": "ENSP00000629774.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 619,
"cds_start": 359,
"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": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.359delT",
"hgvs_p": "p.Phe120fs",
"transcript": "ENST00000897731.1",
"protein_id": "ENSP00000567790.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 615,
"cds_start": 359,
"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": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.359delT",
"hgvs_p": "p.Phe120fs",
"transcript": "ENST00000897732.1",
"protein_id": "ENSP00000567791.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 615,
"cds_start": 359,
"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": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.359delT",
"hgvs_p": "p.Phe120fs",
"transcript": "ENST00000897734.1",
"protein_id": "ENSP00000567793.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 595,
"cds_start": 359,
"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": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.359delT",
"hgvs_p": "p.Phe120fs",
"transcript": "ENST00000926997.1",
"protein_id": "ENSP00000597056.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 589,
"cds_start": 359,
"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": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.359delT",
"hgvs_p": "p.Phe120fs",
"transcript": "ENST00000926996.1",
"protein_id": "ENSP00000597055.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 578,
"cds_start": 359,
"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": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.359delT",
"hgvs_p": "p.Phe120fs",
"transcript": "ENST00000959716.1",
"protein_id": "ENSP00000629775.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 578,
"cds_start": 359,
"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": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.359delT",
"hgvs_p": "p.Phe120fs",
"transcript": "ENST00000897733.1",
"protein_id": "ENSP00000567792.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 561,
"cds_start": 359,
"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": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.359delT",
"hgvs_p": "p.Phe120fs",
"transcript": "ENST00000681552.1",
"protein_id": "ENSP00000505699.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 388,
"cds_start": 359,
"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": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.395delT",
"hgvs_p": "p.Phe132fs",
"transcript": "ENST00000514336.1",
"protein_id": "ENSP00000423758.1",
"transcript_support_level": 3,
"aa_start": 132,
"aa_end": null,
"aa_length": 172,
"cds_start": 395,
"cds_end": null,
"cds_length": 520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514336.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.-11delT",
"hgvs_p": null,
"transcript": "NM_001410805.1",
"protein_id": "NP_001397734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.-11delT",
"hgvs_p": null,
"transcript": "ENST00000679715.1",
"protein_id": "ENSP00000506228.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.-11delT",
"hgvs_p": null,
"transcript": "XM_024453484.2",
"protein_id": "XP_024309252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*55delT",
"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": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*159delT",
"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": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*253delT",
"hgvs_p": null,
"transcript": "ENST00000511227.5",
"protein_id": "ENSP00000425226.1",
"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": "ENST00000511227.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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"transcript": "ENST00000679399.1",
"protein_id": "ENSP00000505434.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679399.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "ACAD9",
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"hgvs_c": "n.*231delT",
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"transcript": "ENST00000679431.1",
"protein_id": "ENSP00000506440.1",
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{
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"protein_coding": false,
"strand": true,
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"3_prime_UTR_variant"
],
"exon_rank": 3,
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*1665delT",
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"transcript": "ENST00000679824.1",
"protein_id": "ENSP00000505516.1",
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679824.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*1759delT",
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"transcript": "ENST00000680764.1",
"protein_id": "ENSP00000505126.1",
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"aa_end": null,
"aa_length": null,
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"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"
}
],
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"dbsnp": "rs863224844",
"frequency_reference_population": 0.00008189704,
"hom_count_reference_population": 0,
"allele_count_reference_population": 132,
"gnomad_exomes_af": 0.0000541172,
"gnomad_genomes_af": 0.000348721,
"gnomad_exomes_ac": 79,
"gnomad_genomes_ac": 53,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.568,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_014049.5",
"gene_symbol": "ACAD9",
"hgnc_id": 21497,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.359delT",
"hgvs_p": "p.Phe120fs"
}
],
"clinvar_disease": "Acyl-CoA dehydrogenase 9 deficiency,Mitochondrial complex I deficiency,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7 LP:1",
"phenotype_combined": "not provided|Mitochondrial complex I deficiency|Acyl-CoA dehydrogenase 9 deficiency",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}