← 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: 3-45516219-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=45516219&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 45516219,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_015340.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "NM_015340.4",
"protein_id": "NP_056155.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 903,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000645846.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015340.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "ENST00000645846.2",
"protein_id": "ENSP00000495093.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 903,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015340.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645846.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "n.*377C>A",
"hgvs_p": null,
"transcript": "ENST00000265537.8",
"protein_id": "ENSP00000265537.4",
"transcript_support_level": 1,
"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": "ENST00000265537.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "n.*377C>A",
"hgvs_p": null,
"transcript": "ENST00000265537.8",
"protein_id": "ENSP00000265537.4",
"transcript_support_level": 1,
"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": "ENST00000265537.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.2089C>A",
"hgvs_p": "p.Arg697Arg",
"transcript": "ENST00000935381.1",
"protein_id": "ENSP00000605440.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 937,
"cds_start": 2089,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935381.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "NM_001368263.1",
"protein_id": "NP_001355192.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 903,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368263.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "ENST00000642274.1",
"protein_id": "ENSP00000495707.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 903,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642274.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "ENST00000650792.2",
"protein_id": "ENSP00000498867.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 903,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650792.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "ENST00000872207.1",
"protein_id": "ENSP00000542266.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 903,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872207.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "ENST00000872209.1",
"protein_id": "ENSP00000542268.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 903,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872209.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "ENST00000935377.1",
"protein_id": "ENSP00000605436.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 903,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935377.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "ENST00000935379.1",
"protein_id": "ENSP00000605438.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 903,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935379.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "ENST00000935382.1",
"protein_id": "ENSP00000605441.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 903,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935382.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "ENST00000935384.1",
"protein_id": "ENSP00000605443.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 903,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935384.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "ENST00000953712.1",
"protein_id": "ENSP00000623771.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 903,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953712.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "ENST00000953713.1",
"protein_id": "ENSP00000623772.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 903,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953713.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "ENST00000953714.1",
"protein_id": "ENSP00000623773.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 886,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953714.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "ENST00000872206.1",
"protein_id": "ENSP00000542265.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 877,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872206.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "ENST00000872212.1",
"protein_id": "ENSP00000542271.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 877,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872212.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1897C>A",
"hgvs_p": "p.Arg633Arg",
"transcript": "ENST00000872211.1",
"protein_id": "ENSP00000542270.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 873,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872211.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1897C>A",
"hgvs_p": "p.Arg633Arg",
"transcript": "ENST00000935378.1",
"protein_id": "ENSP00000605437.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 873,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935378.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1879C>A",
"hgvs_p": "p.Arg627Arg",
"transcript": "ENST00000872210.1",
"protein_id": "ENSP00000542269.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 867,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872210.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1858C>A",
"hgvs_p": "p.Arg620Arg",
"transcript": "ENST00000414984.5",
"protein_id": "ENSP00000412893.1",
"transcript_support_level": 5,
"aa_start": 620,
"aa_end": null,
"aa_length": 860,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414984.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1858C>A",
"hgvs_p": "p.Arg620Arg",
"transcript": "ENST00000872208.1",
"protein_id": "ENSP00000542267.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 860,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872208.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1849C>A",
"hgvs_p": "p.Arg617Arg",
"transcript": "ENST00000935380.1",
"protein_id": "ENSP00000605439.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 857,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935380.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1843C>A",
"hgvs_p": "p.Arg615Arg",
"transcript": "ENST00000935383.1",
"protein_id": "ENSP00000605442.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 855,
"cds_start": 1843,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935383.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1834C>A",
"hgvs_p": "p.Arg612Arg",
"transcript": "ENST00000953711.1",
"protein_id": "ENSP00000623770.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 852,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953711.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "XM_011533554.3",
"protein_id": "XP_011531856.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 830,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533554.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "XM_047447829.1",
"protein_id": "XP_047303785.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 830,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447829.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "XM_017006042.2",
"protein_id": "XP_016861531.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 804,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006042.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg",
"transcript": "XM_047447830.1",
"protein_id": "XP_047303786.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 804,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447830.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "n.266C>A",
"hgvs_p": null,
"transcript": "ENST00000467936.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000467936.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "n.*277C>A",
"hgvs_p": null,
"transcript": "ENST00000651549.1",
"protein_id": "ENSP00000499002.1",
"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": "ENST00000651549.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "n.*1855C>A",
"hgvs_p": null,
"transcript": "ENST00000652135.1",
"protein_id": "ENSP00000499104.1",
"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": "ENST00000652135.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "n.*277C>A",
"hgvs_p": null,
"transcript": "ENST00000651549.1",
"protein_id": "ENSP00000499002.1",
"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": "ENST00000651549.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"hgvs_c": "n.*1855C>A",
"hgvs_p": null,
"transcript": "ENST00000652135.1",
"protein_id": "ENSP00000499104.1",
"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": "ENST00000652135.1"
}
],
"gene_symbol": "LARS2",
"gene_hgnc_id": 17095,
"dbsnp": "rs774649299",
"frequency_reference_population": 6.840666e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84067e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.14000000059604645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.695,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015340.4",
"gene_symbol": "LARS2",
"hgnc_id": 17095,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1987C>A",
"hgvs_p": "p.Arg663Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}