← 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: 4-39463613-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=39463613&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 39463613,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001278591.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.401C>A",
"hgvs_p": "p.Pro134Gln",
"transcript": "ENST00000424936.6",
"protein_id": "ENSP00000491086.1",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 142,
"cds_start": 401,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424936.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.393+8C>A",
"hgvs_p": null,
"transcript": "NM_006859.4",
"protein_id": "NP_006850.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.393+8C>A",
"hgvs_p": null,
"transcript": "ENST00000640888.2",
"protein_id": "ENSP00000492260.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": null,
"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": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.401C>A",
"hgvs_p": "p.Pro134Gln",
"transcript": "NM_001278591.2",
"protein_id": "NP_001265520.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 142,
"cds_start": 401,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278591.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.*4C>A",
"hgvs_p": null,
"transcript": "NM_001278592.2",
"protein_id": "NP_001265521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": null,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278592.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.*4C>A",
"hgvs_p": null,
"transcript": "ENST00000509519.5",
"protein_id": "ENSP00000492833.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": null,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509519.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.387+8C>A",
"hgvs_p": null,
"transcript": "ENST00000946185.1",
"protein_id": "ENSP00000616244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"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": 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": 3,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.312+1324C>A",
"hgvs_p": null,
"transcript": "ENST00000870880.1",
"protein_id": "ENSP00000540939.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"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.393+8C>A",
"hgvs_p": null,
"transcript": "NM_001278590.2",
"protein_id": "NP_001265519.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"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.393+8C>A",
"hgvs_p": null,
"transcript": "ENST00000381846.2",
"protein_id": "ENSP00000371270.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"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.393+8C>A",
"hgvs_p": null,
"transcript": "NM_194451.3",
"protein_id": "NP_919433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"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.393+8C>A",
"hgvs_p": null,
"transcript": "ENST00000340169.7",
"protein_id": "ENSP00000340676.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"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.393+8C>A",
"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": [
"splice_region_variant",
"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+8C>A",
"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": [
"splice_region_variant",
"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+8C>A",
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.153+8C>A",
"hgvs_p": null,
"transcript": "ENST00000640672.1",
"protein_id": "ENSP00000492203.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": null,
"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": 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.218+2651C>A",
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "c.126+8C>A",
"hgvs_p": null,
"transcript": "ENST00000934755.1",
"protein_id": "ENSP00000604814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"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": [
"splice_region_variant",
"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+8C>A",
"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+2651C>A",
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "n.391+8C>A",
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "n.393+8C>A",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "n.90-1433C>A",
"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": [
"splice_region_variant",
"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": "n.264+8C>A",
"hgvs_p": null,
"transcript": "ENST00000638816.1",
"protein_id": "ENSP00000492482.1",
"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": "ENST00000638816.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "n.219-1433C>A",
"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": [
"splice_region_variant",
"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+8C>A",
"hgvs_p": null,
"transcript": "ENST00000639422.1",
"protein_id": "ENSP00000491899.1",
"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": "ENST00000639422.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "n.453+8C>A",
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"hgvs_c": "n.299+8C>A",
"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"
}
],
"gene_symbol": "LIAS",
"gene_hgnc_id": 16429,
"dbsnp": "rs201574806",
"frequency_reference_population": 0.0011370778,
"hom_count_reference_population": 9,
"allele_count_reference_population": 1831,
"gnomad_exomes_af": 0.00110632,
"gnomad_genomes_af": 0.00143154,
"gnomad_exomes_ac": 1613,
"gnomad_genomes_ac": 218,
"gnomad_exomes_homalt": 8,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0027396678924560547,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.014000000432133675,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.1476,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000149333791698508,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001278591.2",
"gene_symbol": "LIAS",
"hgnc_id": 16429,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.401C>A",
"hgvs_p": "p.Pro134Gln"
}
],
"clinvar_disease": "Lipoic acid synthetase deficiency,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "Lipoic acid synthetase deficiency|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}