← Back to variant description
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: 2-26194581-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26194581&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 26194581,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_000182.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Arg560*",
"transcript": "NM_000182.5",
"protein_id": "NP_000173.2",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 763,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380649.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000182.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Arg560*",
"transcript": "ENST00000380649.8",
"protein_id": "ENSP00000370023.3",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 763,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000182.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380649.8"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1843C>T",
"hgvs_p": "p.Arg615*",
"transcript": "ENST00000942149.1",
"protein_id": "ENSP00000612208.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 818,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942149.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1774C>T",
"hgvs_p": "p.Arg592*",
"transcript": "ENST00000942146.1",
"protein_id": "ENSP00000612205.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 795,
"cds_start": 1774,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942146.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Arg560*",
"transcript": "ENST00000492433.2",
"protein_id": "ENSP00000438039.2",
"transcript_support_level": 2,
"aa_start": 560,
"aa_end": null,
"aa_length": 792,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492433.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1759C>T",
"hgvs_p": "p.Arg587*",
"transcript": "ENST00000859324.1",
"protein_id": "ENSP00000529383.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 790,
"cds_start": 1759,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859324.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1753C>T",
"hgvs_p": "p.Arg585*",
"transcript": "ENST00000942150.1",
"protein_id": "ENSP00000612209.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 788,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942150.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1729C>T",
"hgvs_p": "p.Arg577*",
"transcript": "ENST00000859333.1",
"protein_id": "ENSP00000529392.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 780,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859333.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1714C>T",
"hgvs_p": "p.Arg572*",
"transcript": "ENST00000942153.1",
"protein_id": "ENSP00000612212.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 775,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942153.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Arg560*",
"transcript": "ENST00000942145.1",
"protein_id": "ENSP00000612204.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 769,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942145.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1693C>T",
"hgvs_p": "p.Arg565*",
"transcript": "ENST00000859325.1",
"protein_id": "ENSP00000529384.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 768,
"cds_start": 1693,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859325.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Arg560*",
"transcript": "ENST00000942141.1",
"protein_id": "ENSP00000612200.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 763,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942141.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Arg560*",
"transcript": "ENST00000942144.1",
"protein_id": "ENSP00000612203.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 763,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942144.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Arg558*",
"transcript": "ENST00000925541.1",
"protein_id": "ENSP00000595600.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 761,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925541.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Arg558*",
"transcript": "ENST00000942142.1",
"protein_id": "ENSP00000612201.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 761,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942142.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"transcript": "ENST00000859327.1",
"protein_id": "ENSP00000529386.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 760,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859327.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"transcript": "ENST00000942147.1",
"protein_id": "ENSP00000612206.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 760,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942147.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1642C>T",
"hgvs_p": "p.Arg548*",
"transcript": "ENST00000859332.1",
"protein_id": "ENSP00000529391.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 751,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859332.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1636C>T",
"hgvs_p": "p.Arg546*",
"transcript": "ENST00000942143.1",
"protein_id": "ENSP00000612202.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 749,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942143.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1573C>T",
"hgvs_p": "p.Arg525*",
"transcript": "ENST00000645274.1",
"protein_id": "ENSP00000493996.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 728,
"cds_start": 1573,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645274.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Arg520*",
"transcript": "ENST00000859326.1",
"protein_id": "ENSP00000529385.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 723,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859326.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Arg519*",
"transcript": "ENST00000942151.1",
"protein_id": "ENSP00000612210.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 722,
"cds_start": 1555,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942151.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1543C>T",
"hgvs_p": "p.Arg515*",
"transcript": "ENST00000859329.1",
"protein_id": "ENSP00000529388.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 718,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859329.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1540C>T",
"hgvs_p": "p.Arg514*",
"transcript": "ENST00000859330.1",
"protein_id": "ENSP00000529389.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 717,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859330.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.Arg469*",
"transcript": "ENST00000859328.1",
"protein_id": "ENSP00000529387.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 672,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859328.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Arg429*",
"transcript": "ENST00000942148.1",
"protein_id": "ENSP00000612207.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 632,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942148.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.1620+511C>T",
"hgvs_p": null,
"transcript": "ENST00000859331.1",
"protein_id": "ENSP00000529390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 740,
"cds_start": null,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859331.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "c.677-2157C>T",
"hgvs_p": null,
"transcript": "ENST00000942152.1",
"protein_id": "ENSP00000612211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942152.1"
},
{
"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": "GAREM2",
"gene_hgnc_id": 27172,
"hgvs_c": "c.1683+7266G>A",
"hgvs_p": null,
"transcript": "XM_011532567.4",
"protein_id": "XP_011530869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
"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": "XM_011532567.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "n.*1569C>T",
"hgvs_p": null,
"transcript": "ENST00000643057.1",
"protein_id": "ENSP00000493761.1",
"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": "ENST00000643057.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "n.*724C>T",
"hgvs_p": null,
"transcript": "ENST00000643063.1",
"protein_id": "ENSP00000495353.1",
"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": "ENST00000643063.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "n.*1569C>T",
"hgvs_p": null,
"transcript": "ENST00000643233.1",
"protein_id": "ENSP00000493880.1",
"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": "ENST00000643233.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "n.*302C>T",
"hgvs_p": null,
"transcript": "ENST00000644428.1",
"protein_id": "ENSP00000495560.1",
"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": "ENST00000644428.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "n.*874C>T",
"hgvs_p": null,
"transcript": "ENST00000646031.1",
"protein_id": "ENSP00000493956.1",
"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": "ENST00000646031.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "n.*1295C>T",
"hgvs_p": null,
"transcript": "ENST00000646483.1",
"protein_id": "ENSP00000496185.1",
"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": "ENST00000646483.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "n.*1569C>T",
"hgvs_p": null,
"transcript": "ENST00000643057.1",
"protein_id": "ENSP00000493761.1",
"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": "ENST00000643057.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "n.*724C>T",
"hgvs_p": null,
"transcript": "ENST00000643063.1",
"protein_id": "ENSP00000495353.1",
"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": "ENST00000643063.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "n.*1569C>T",
"hgvs_p": null,
"transcript": "ENST00000643233.1",
"protein_id": "ENSP00000493880.1",
"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": "ENST00000643233.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "n.*302C>T",
"hgvs_p": null,
"transcript": "ENST00000644428.1",
"protein_id": "ENSP00000495560.1",
"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": "ENST00000644428.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "n.*874C>T",
"hgvs_p": null,
"transcript": "ENST00000646031.1",
"protein_id": "ENSP00000493956.1",
"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": "ENST00000646031.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"hgvs_c": "n.*1295C>T",
"hgvs_p": null,
"transcript": "ENST00000646483.1",
"protein_id": "ENSP00000496185.1",
"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": "ENST00000646483.1"
}
],
"gene_symbol": "HADHA",
"gene_hgnc_id": 4801,
"dbsnp": "rs137852771",
"frequency_reference_population": 0.000022700633,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000227006,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4000000059604645,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.126,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000182.5",
"gene_symbol": "HADHA",
"hgnc_id": 4801,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Arg560*"
},
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "XM_011532567.4",
"gene_symbol": "GAREM2",
"hgnc_id": 27172,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1683+7266G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Mitochondrial trifunctional protein deficiency,Mitochondrial trifunctional protein deficiency 1,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6",
"phenotype_combined": "Mitochondrial trifunctional protein deficiency|Mitochondrial trifunctional protein deficiency;Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|not provided|Mitochondrial trifunctional protein deficiency 1|Mitochondrial trifunctional protein deficiency 1;Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}