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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: 6-31588645-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31588645&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31588645,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_007161.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.263A>C",
"hgvs_p": "p.Tyr88Ser",
"transcript": "NM_205839.3",
"protein_id": "NP_995311.2",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 97,
"cds_start": 263,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000438075.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_205839.3"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.263A>C",
"hgvs_p": "p.Tyr88Ser",
"transcript": "ENST00000438075.7",
"protein_id": "ENSP00000391929.3",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 97,
"cds_start": 263,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_205839.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438075.7"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"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": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.284A>C",
"hgvs_p": "p.Tyr95Ser",
"transcript": "ENST00000376093.6",
"protein_id": "ENSP00000365261.2",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 104,
"cds_start": 284,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376093.6"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.191A>C",
"hgvs_p": "p.Tyr64Ser",
"transcript": "ENST00000376086.7",
"protein_id": "ENSP00000365254.3",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 73,
"cds_start": 191,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376086.7"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.170A>C",
"hgvs_p": "p.Tyr57Ser",
"transcript": "ENST00000376089.6",
"protein_id": "ENSP00000365257.2",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 66,
"cds_start": 170,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376089.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.*60A>C",
"hgvs_p": null,
"transcript": "ENST00000339530.8",
"protein_id": "ENSP00000339201.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": null,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339530.8"
},
{
"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": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.*60A>C",
"hgvs_p": null,
"transcript": "ENST00000303757.12",
"protein_id": "ENSP00000303649.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303757.12"
},
{
"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": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.*60A>C",
"hgvs_p": null,
"transcript": "ENST00000396101.7",
"protein_id": "ENSP00000379408.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 44,
"cds_start": null,
"cds_end": null,
"cds_length": 135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396101.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.*60A>C",
"hgvs_p": null,
"transcript": "ENST00000376092.7",
"protein_id": "ENSP00000365260.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 35,
"cds_start": null,
"cds_end": null,
"cds_length": 108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376092.7"
},
{
"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": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.*60A>C",
"hgvs_p": null,
"transcript": "ENST00000211921.11",
"protein_id": "ENSP00000211921.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 28,
"cds_start": null,
"cds_end": null,
"cds_length": 87,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000211921.11"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "n.1568A>C",
"hgvs_p": null,
"transcript": "ENST00000464526.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000464526.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.311A>C",
"hgvs_p": "p.Tyr104Ser",
"transcript": "ENST00000868367.1",
"protein_id": "ENSP00000538426.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 113,
"cds_start": 311,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868367.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"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": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.284A>C",
"hgvs_p": "p.Tyr95Ser",
"transcript": "NM_007161.3",
"protein_id": "NP_009092.3",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 104,
"cds_start": 284,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007161.3"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.263A>C",
"hgvs_p": "p.Tyr88Ser",
"transcript": "ENST00000868368.1",
"protein_id": "ENSP00000538427.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 97,
"cds_start": 263,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868368.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"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": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.263A>C",
"hgvs_p": "p.Tyr88Ser",
"transcript": "ENST00000868370.1",
"protein_id": "ENSP00000538429.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 97,
"cds_start": 263,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868370.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.218A>C",
"hgvs_p": "p.Tyr73Ser",
"transcript": "ENST00000868366.1",
"protein_id": "ENSP00000538425.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 82,
"cds_start": 218,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868366.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.218A>C",
"hgvs_p": "p.Tyr73Ser",
"transcript": "ENST00000953352.1",
"protein_id": "ENSP00000623411.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 82,
"cds_start": 218,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953352.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.191A>C",
"hgvs_p": "p.Tyr64Ser",
"transcript": "NM_001166538.1",
"protein_id": "NP_001160010.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 73,
"cds_start": 191,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166538.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"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": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.170A>C",
"hgvs_p": "p.Tyr57Ser",
"transcript": "NM_205838.3",
"protein_id": "NP_995310.2",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 66,
"cds_start": 170,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_205838.3"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"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": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.170A>C",
"hgvs_p": "p.Tyr57Ser",
"transcript": "ENST00000418507.6",
"protein_id": "ENSP00000405900.2",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 66,
"cds_start": 170,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418507.6"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"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": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.170A>C",
"hgvs_p": "p.Tyr57Ser",
"transcript": "ENST00000868369.1",
"protein_id": "ENSP00000538428.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 66,
"cds_start": 170,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868369.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"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": "LST1",
"gene_hgnc_id": 14189,
"hgvs_c": "c.170A>C",
"hgvs_p": "p.Tyr57Ser",
"transcript": "ENST00000953354.1",
"protein_id": "ENSP00000623413.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 66,
"cds_start": 170,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953354.1"
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
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"transcript": "ENST00000396112.6",
"protein_id": "ENSP00000379418.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": null,
"cds_end": null,
"cds_length": 199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396112.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCR3",
"gene_hgnc_id": 19077,
"hgvs_c": "c.*422T>G",
"hgvs_p": null,
"transcript": "XM_006715049.4",
"protein_id": "XP_006715112.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715049.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCR3",
"gene_hgnc_id": 19077,
"hgvs_c": "c.*422T>G",
"hgvs_p": null,
"transcript": "XM_011514459.3",
"protein_id": "XP_011512761.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514459.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCR3",
"gene_hgnc_id": 19077,
"hgvs_c": "n.*250T>G",
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"transcript": "ENST00000491161.1",
"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": "pseudogene",
"feature": "ENST00000491161.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCR3",
"gene_hgnc_id": 19077,
"hgvs_c": "n.*250T>G",
"hgvs_p": null,
"transcript": "ENST00000495600.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000495600.5"
}
],
"gene_symbol": "LST1",
"gene_hgnc_id": 14189,
"dbsnp": "rs371194868",
"frequency_reference_population": 0.000078735764,
"hom_count_reference_population": 0,
"allele_count_reference_population": 127,
"gnomad_exomes_af": 0.0000759834,
"gnomad_genomes_af": 0.000105164,
"gnomad_exomes_ac": 111,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9697390198707581,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.712,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8269,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.914,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007161.3",
"gene_symbol": "LST1",
"hgnc_id": 14189,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.284A>C",
"hgvs_p": "p.Tyr95Ser"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "NM_147130.3",
"gene_symbol": "NCR3",
"hgnc_id": 19077,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*422T>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}