← 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: 1-154172971-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154172971&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154172971,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000651641.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.503G>T",
"hgvs_p": "p.Arg168Leu",
"transcript": "NM_152263.4",
"protein_id": "NP_689476.2",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 285,
"cds_start": 503,
"cds_end": null,
"cds_length": 858,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 7064,
"mane_select": "ENST00000651641.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.503G>T",
"hgvs_p": "p.Arg168Leu",
"transcript": "ENST00000651641.1",
"protein_id": "ENSP00000498577.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 285,
"cds_start": 503,
"cds_end": null,
"cds_length": 858,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 7064,
"mane_select": "NM_152263.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.503G>T",
"hgvs_p": "p.Arg168Leu",
"transcript": "ENST00000368530.7",
"protein_id": "ENSP00000357516.3",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 285,
"cds_start": 503,
"cds_end": null,
"cds_length": 858,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Arg131Leu",
"transcript": "ENST00000330188.13",
"protein_id": "ENSP00000339035.7",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 248,
"cds_start": 392,
"cds_end": null,
"cds_length": 747,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Arg131Leu",
"transcript": "ENST00000368533.8",
"protein_id": "ENSP00000357521.3",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 248,
"cds_start": 392,
"cds_end": null,
"cds_length": 747,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Arg131Leu",
"transcript": "ENST00000368531.6",
"protein_id": "ENSP00000357517.2",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 247,
"cds_start": 392,
"cds_end": null,
"cds_length": 744,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 1115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.392G>T",
"hgvs_p": null,
"transcript": "ENST00000341485.10",
"protein_id": "ENSP00000341653.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.503G>T",
"hgvs_p": "p.Arg168Leu",
"transcript": "NM_001364679.2",
"protein_id": "NP_001351608.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 285,
"cds_start": 503,
"cds_end": null,
"cds_length": 858,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 3271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.503G>T",
"hgvs_p": "p.Arg168Leu",
"transcript": "NM_001364680.2",
"protein_id": "NP_001351609.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 285,
"cds_start": 503,
"cds_end": null,
"cds_length": 858,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 3271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.503G>T",
"hgvs_p": "p.Arg168Leu",
"transcript": "NM_001364682.1",
"protein_id": "NP_001351611.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 285,
"cds_start": 503,
"cds_end": null,
"cds_length": 858,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 7064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.503G>T",
"hgvs_p": "p.Arg168Leu",
"transcript": "ENST00000271850.11",
"protein_id": "ENSP00000271850.7",
"transcript_support_level": 5,
"aa_start": 168,
"aa_end": null,
"aa_length": 285,
"cds_start": 503,
"cds_end": null,
"cds_length": 858,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 1219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.503G>T",
"hgvs_p": "p.Arg168Leu",
"transcript": "NM_001364681.2",
"protein_id": "NP_001351610.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 284,
"cds_start": 503,
"cds_end": null,
"cds_length": 855,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Arg131Leu",
"transcript": "NM_001043351.2",
"protein_id": "NP_001036816.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 248,
"cds_start": 392,
"cds_end": null,
"cds_length": 747,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Arg131Leu",
"transcript": "NM_001278189.2",
"protein_id": "NP_001265118.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 248,
"cds_start": 392,
"cds_end": null,
"cds_length": 747,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 3256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Arg131Leu",
"transcript": "NM_001349679.2",
"protein_id": "NP_001336608.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 248,
"cds_start": 392,
"cds_end": null,
"cds_length": 747,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 3256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Arg131Leu",
"transcript": "NM_001364683.1",
"protein_id": "NP_001351612.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 248,
"cds_start": 392,
"cds_end": null,
"cds_length": 747,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 6970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Arg131Leu",
"transcript": "NM_153649.4",
"protein_id": "NP_705935.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 248,
"cds_start": 392,
"cds_end": null,
"cds_length": 747,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Arg131Leu",
"transcript": "ENST00000328159.9",
"protein_id": "ENSP00000357520.1",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 248,
"cds_start": 392,
"cds_end": null,
"cds_length": 747,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Arg131Leu",
"transcript": "NM_001043352.2",
"protein_id": "NP_001036817.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 247,
"cds_start": 392,
"cds_end": null,
"cds_length": 744,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Arg131Leu",
"transcript": "NM_001043353.2",
"protein_id": "NP_001036818.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 247,
"cds_start": 392,
"cds_end": null,
"cds_length": 744,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Arg131Leu",
"transcript": "ENST00000323144.12",
"protein_id": "ENSP00000357518.4",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 247,
"cds_start": 392,
"cds_end": null,
"cds_length": 744,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 1185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Arg131Leu",
"transcript": "NM_001278190.2",
"protein_id": "NP_001265119.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 227,
"cds_start": 392,
"cds_end": null,
"cds_length": 684,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.392G>T",
"hgvs_p": "p.Arg131Leu",
"transcript": "ENST00000611659.5",
"protein_id": "ENSP00000480520.1",
"transcript_support_level": 3,
"aa_start": 131,
"aa_end": null,
"aa_length": 227,
"cds_start": 392,
"cds_end": null,
"cds_length": 684,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.194G>T",
"hgvs_p": "p.Arg65Leu",
"transcript": "NM_001278188.2",
"protein_id": "NP_001265117.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 182,
"cds_start": 194,
"cds_end": null,
"cds_length": 549,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.122G>T",
"hgvs_p": "p.Arg41Leu",
"transcript": "NM_001278191.2",
"protein_id": "NP_001265120.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 158,
"cds_start": 122,
"cds_end": null,
"cds_length": 477,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "c.122G>T",
"hgvs_p": "p.Arg41Leu",
"transcript": "ENST00000302206.9",
"protein_id": "ENSP00000307712.5",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 158,
"cds_start": 122,
"cds_end": null,
"cds_length": 477,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.359G>T",
"hgvs_p": null,
"transcript": "ENST00000312970.13",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.*108G>T",
"hgvs_p": null,
"transcript": "ENST00000341372.8",
"protein_id": "ENSP00000339378.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.468G>T",
"hgvs_p": null,
"transcript": "ENST00000368527.7",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.286G>T",
"hgvs_p": null,
"transcript": "ENST00000469717.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.447G>T",
"hgvs_p": null,
"transcript": "ENST00000473036.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.254G>T",
"hgvs_p": null,
"transcript": "ENST00000505010.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.*108G>T",
"hgvs_p": null,
"transcript": "ENST00000509409.5",
"protein_id": "ENSP00000426521.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.503G>T",
"hgvs_p": null,
"transcript": "ENST00000651644.1",
"protein_id": "ENSP00000498648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.*151G>T",
"hgvs_p": null,
"transcript": "ENST00000651873.1",
"protein_id": "ENSP00000498531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.491G>T",
"hgvs_p": null,
"transcript": "NR_103461.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.*108G>T",
"hgvs_p": null,
"transcript": "ENST00000341372.8",
"protein_id": "ENSP00000339378.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.*108G>T",
"hgvs_p": null,
"transcript": "ENST00000509409.5",
"protein_id": "ENSP00000426521.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.*151G>T",
"hgvs_p": null,
"transcript": "ENST00000651873.1",
"protein_id": "ENSP00000498531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"hgvs_c": "n.267-880G>T",
"hgvs_p": null,
"transcript": "ENST00000509601.1",
"protein_id": "ENSP00000422207.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TPM3",
"gene_hgnc_id": 12012,
"dbsnp": "rs121964852",
"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": 0.9187725782394409,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.714,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9875,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.847,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000651641.1",
"gene_symbol": "TPM3",
"hgnc_id": 12012,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,SD,AR",
"hgvs_c": "c.503G>T",
"hgvs_p": "p.Arg168Leu"
}
],
"clinvar_disease": " autosomal recessive,Congenital myopathy 4B,Congenital myopathy with fiber type disproportion",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Congenital myopathy with fiber type disproportion;Congenital myopathy 4B, autosomal recessive",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}