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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: 4-39465127-GAG-AAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=39465127&ref=GAG&alt=AAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 39465127,
"ref": "GAG",
"alt": "AAA",
"effect": "missense_variant",
"transcript": "NM_006859.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.475_477delGAGinsAAA",
"hgvs_p": "p.Glu159Lys",
"transcript": "NM_006859.4",
"protein_id": "NP_006850.2",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 372,
"cds_start": 475,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000640888.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006859.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.475_477delGAGinsAAA",
"hgvs_p": "p.Glu159Lys",
"transcript": "ENST00000640888.2",
"protein_id": "ENSP00000492260.1",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 372,
"cds_start": 475,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006859.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640888.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.469_471delGAGinsAAA",
"hgvs_p": "p.Glu157Lys",
"transcript": "ENST00000946185.1",
"protein_id": "ENSP00000616244.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 370,
"cds_start": 469,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946185.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.394_396delGAGinsAAA",
"hgvs_p": "p.Glu132Lys",
"transcript": "ENST00000870880.1",
"protein_id": "ENSP00000540939.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 345,
"cds_start": 394,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870880.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.475_477delGAGinsAAA",
"hgvs_p": "p.Glu159Lys",
"transcript": "NM_001278590.2",
"protein_id": "NP_001265519.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 329,
"cds_start": 475,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278590.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.475_477delGAGinsAAA",
"hgvs_p": "p.Glu159Lys",
"transcript": "ENST00000381846.2",
"protein_id": "ENSP00000371270.1",
"transcript_support_level": 3,
"aa_start": 159,
"aa_end": null,
"aa_length": 329,
"cds_start": 475,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381846.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.475_477delGAGinsAAA",
"hgvs_p": "p.Glu159Lys",
"transcript": "NM_194451.3",
"protein_id": "NP_919433.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 322,
"cds_start": 475,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194451.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.475_477delGAGinsAAA",
"hgvs_p": "p.Glu159Lys",
"transcript": "ENST00000340169.7",
"protein_id": "ENSP00000340676.2",
"transcript_support_level": 5,
"aa_start": 159,
"aa_end": null,
"aa_length": 322,
"cds_start": 475,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340169.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.235_237delGAGinsAAA",
"hgvs_p": "p.Glu79Lys",
"transcript": "ENST00000640672.1",
"protein_id": "ENSP00000492203.1",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 265,
"cds_start": 235,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640672.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.208_210delGAGinsAAA",
"hgvs_p": "p.Glu70Lys",
"transcript": "ENST00000934755.1",
"protein_id": "ENSP00000604814.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 240,
"cds_start": 208,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934755.1"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.394-890_394-888delGAGinsAAA",
"hgvs_p": null,
"transcript": "ENST00000640349.1",
"protein_id": "ENSP00000491477.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
"cds_end": null,
"cds_length": 965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640349.1"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.299+1522_299+1524delGAGinsAAA",
"hgvs_p": null,
"transcript": "NM_001363700.2",
"protein_id": "NP_001350629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": null,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363700.2"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.299+1522_299+1524delGAGinsAAA",
"hgvs_p": null,
"transcript": "ENST00000261434.8",
"protein_id": "ENSP00000261434.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": null,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261434.8"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.219-2391_219-2389delGAGinsAAA",
"hgvs_p": null,
"transcript": "ENST00000513731.6",
"protein_id": "ENSP00000425580.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": null,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513731.6"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.299+1522_299+1524delGAGinsAAA",
"hgvs_p": null,
"transcript": "ENST00000638451.1",
"protein_id": "ENSP00000491681.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638451.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.218+4165_218+4167delGAGinsAAA",
"hgvs_p": null,
"transcript": "ENST00000934754.1",
"protein_id": "ENSP00000604813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934754.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "n.473_475delGAGinsAAA",
"hgvs_p": null,
"transcript": "ENST00000515061.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000515061.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "n.475_477delGAGinsAAA",
"hgvs_p": null,
"transcript": "ENST00000638422.1",
"protein_id": "ENSP00000491001.1",
"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,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000638422.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "n.*78_*80delGAGinsAAA",
"hgvs_p": null,
"transcript": "ENST00000638430.1",
"protein_id": "ENSP00000491831.1",
"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,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000638430.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "n.*78_*80delGAGinsAAA",
"hgvs_p": null,
"transcript": "ENST00000638837.1",
"protein_id": "ENSP00000492038.1",
"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,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000638837.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "n.535_537delGAGinsAAA",
"hgvs_p": null,
"transcript": "ENST00000640381.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000640381.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "n.*78_*80delGAGinsAAA",
"hgvs_p": null,
"transcript": "ENST00000640689.1",
"protein_id": "ENSP00000491591.1",
"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,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640689.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
"exon_rank": 2,
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"exon_count": 8,
"intron_rank": null,
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"transcript": "ENST00000638430.1",
"protein_id": "ENSP00000491831.1",
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"cds_start": null,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
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"exon_count": 5,
"intron_rank": null,
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"hgvs_c": "n.*78_*80delGAGinsAAA",
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"transcript": "ENST00000638837.1",
"protein_id": "ENSP00000492038.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000638837.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "LIAS",
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"hgvs_c": "n.*78_*80delGAGinsAAA",
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"transcript": "ENST00000640689.1",
"protein_id": "ENSP00000491591.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640689.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"intron_rank": 3,
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"gene_symbol": "LIAS",
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"hgvs_c": "n.265-158_265-156delGAGinsAAA",
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"transcript": "ENST00000638816.1",
"protein_id": "ENSP00000492482.1",
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"aa_start": null,
"aa_end": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000638816.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "n.393+1522_393+1524delGAGinsAAA",
"hgvs_p": null,
"transcript": "ENST00000639422.1",
"protein_id": "ENSP00000491899.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000639422.1"
}
],
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"dbsnp": "rs869320760",
"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": 9.048,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3,PP5",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006859.4",
"gene_symbol": "LIAS",
"hgnc_id": 16429,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.475_477delGAGinsAAA",
"hgvs_p": "p.Glu159Lys"
}
],
"clinvar_disease": "Lipoic acid synthetase deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Lipoic acid synthetase deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}