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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: 17-7222865-GG-CAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7222865&ref=GG&alt=CAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7222865,
"ref": "GG",
"alt": "CAC",
"effect": "splice_donor_variant,splice_region_variant,synonymous_variant,intron_variant",
"transcript": "NM_001270447.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1077_1077+1delGGinsCAC",
"hgvs_p": "p.Ala359_Val360ins???",
"transcript": "NM_000018.4",
"protein_id": "NP_000009.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 655,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": "ENST00000356839.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000018.4"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1077_1077+1delGGinsCAC",
"hgvs_p": "p.Ala359_Val360ins???",
"transcript": "ENST00000356839.10",
"protein_id": "ENSP00000349297.5",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 655,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": "NM_000018.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356839.10"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1011_1011+1delGGinsCAC",
"hgvs_p": "p.Ala337_Val338ins???",
"transcript": "ENST00000350303.9",
"protein_id": "ENSP00000344152.5",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 633,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 2191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350303.9"
},
{
"aa_ref": "AV",
"aa_alt": "AT?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1077_1078delGGinsCAC",
"hgvs_p": "p.Val360fs",
"transcript": "ENST00000916066.1",
"protein_id": "ENSP00000586125.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 655,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916066.1"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1146_1146+1delGGinsCAC",
"hgvs_p": "p.Ala382_Val383ins???",
"transcript": "NM_001270447.2",
"protein_id": "NP_001257376.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 678,
"cds_start": 1146,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270447.2"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1146_1146+1delGGinsCAC",
"hgvs_p": "p.Ala382_Val383ins???",
"transcript": "ENST00000543245.6",
"protein_id": "ENSP00000438689.2",
"transcript_support_level": 2,
"aa_start": 382,
"aa_end": null,
"aa_length": 678,
"cds_start": 1146,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543245.6"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1077_1077+1delGGinsCAC",
"hgvs_p": "p.Ala359_Asn360ins???",
"transcript": "ENST00000945302.1",
"protein_id": "ENSP00000615361.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 669,
"cds_start": 1077,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945302.1"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1107_1107+1delGGinsCAC",
"hgvs_p": "p.Ala369_Val370ins???",
"transcript": "ENST00000883761.1",
"protein_id": "ENSP00000553820.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 665,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883761.1"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1077_1077+1delGGinsCAC",
"hgvs_p": "p.Ala359_Arg360ins???",
"transcript": "ENST00000945308.1",
"protein_id": "ENSP00000615367.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 663,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945308.1"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1095_1095+1delGGinsCAC",
"hgvs_p": "p.Ala365_Val366ins???",
"transcript": "ENST00000883770.1",
"protein_id": "ENSP00000553829.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 661,
"cds_start": 1095,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883770.1"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1077_1077+1delGGinsCAC",
"hgvs_p": "p.Ala359_Val360ins???",
"transcript": "ENST00000916068.1",
"protein_id": "ENSP00000586127.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 655,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916068.1"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1077_1077+1delGGinsCAC",
"hgvs_p": "p.Ala359_Val360ins???",
"transcript": "ENST00000883764.1",
"protein_id": "ENSP00000553823.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 654,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883764.1"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1077_1077+1delGGinsCAC",
"hgvs_p": "p.Ala359_Val360ins???",
"transcript": "ENST00000883757.1",
"protein_id": "ENSP00000553816.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 652,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883757.1"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1068_1068+1delGGinsCAC",
"hgvs_p": "p.Ala356_Val357ins???",
"transcript": "ENST00000945291.1",
"protein_id": "ENSP00000615350.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 652,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945291.1"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1077_1077+1delGGinsCAC",
"hgvs_p": "p.Ala359_Val360ins???",
"transcript": "ENST00000945298.1",
"protein_id": "ENSP00000615357.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 651,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945298.1"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1077_1077+1delGGinsCAC",
"hgvs_p": "p.Ala359_Val360ins???",
"transcript": "ENST00000945297.1",
"protein_id": "ENSP00000615356.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 650,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945297.1"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1077_1077+1delGGinsCAC",
"hgvs_p": "p.Ala359_Val360ins???",
"transcript": "ENST00000883762.1",
"protein_id": "ENSP00000553821.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 647,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883762.1"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1077_1077+1delGGinsCAC",
"hgvs_p": "p.Ala359_Val360ins???",
"transcript": "ENST00000883763.1",
"protein_id": "ENSP00000553822.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 647,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883763.1"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1011_1011+1delGGinsCAC",
"hgvs_p": "p.Ala337_Asn338ins???",
"transcript": "ENST00000945292.1",
"protein_id": "ENSP00000615351.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 647,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945292.1"
},
{
"aa_ref": "A",
"aa_alt": "A?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "c.1077_1077+1delGGinsCAC",
"hgvs_p": "p.Ala359_Phe360ins???",
"transcript": "ENST00000945303.1",
"protein_id": "ENSP00000615362.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 646,
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},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.1124_1124+1delGGinsCAC",
"hgvs_p": null,
"transcript": "XR_007065296.1",
"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": 1740,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007065296.1"
},
{
"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": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.-242_-241delGGinsCAC",
"hgvs_p": null,
"transcript": "ENST00000578579.2",
"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": 458,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000578579.2"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.-167_-166delGGinsCAC",
"hgvs_p": null,
"transcript": "ENST00000579425.5",
"protein_id": null,
"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": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000579425.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"hgvs_c": "n.*565_*566delGGinsCAC",
"hgvs_p": null,
"transcript": "ENST00000581378.5",
"protein_id": "ENSP00000462366.1",
"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": 752,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000581378.5"
}
],
"gene_symbol": "ACADVL",
"gene_hgnc_id": 92,
"dbsnp": "rs1057516686",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.621,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2_Supporting,PVS1,PP4",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2_Supporting",
"PVS1",
"PP4"
],
"verdict": "Pathogenic",
"transcript": "NM_001270447.2",
"gene_symbol": "ACADVL",
"hgnc_id": 92,
"effects": [
"splice_donor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1146_1146+1delGGinsCAC",
"hgvs_p": "p.Ala382_Val383ins???"
}
],
"clinvar_disease": "ACADVL-related disorder,Very long chain acyl-CoA dehydrogenase deficiency,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:3 LP:4",
"phenotype_combined": "Very long chain acyl-CoA dehydrogenase deficiency|not provided|ACADVL-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}