← 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: 20-64069420-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=64069420&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 64069420,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003195.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Pro130Leu",
"transcript": "NM_003195.6",
"protein_id": "NP_003186.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 299,
"cds_start": 389,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343484.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003195.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Pro130Leu",
"transcript": "ENST00000343484.10",
"protein_id": "ENSP00000343515.5",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 299,
"cds_start": 389,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003195.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343484.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "n.544C>T",
"hgvs_p": null,
"transcript": "ENST00000487164.5",
"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": "pseudogene",
"feature": "ENST00000487164.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Pro147Leu",
"transcript": "ENST00000881796.1",
"protein_id": "ENSP00000551855.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 440,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881796.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Pro130Leu",
"transcript": "ENST00000940921.1",
"protein_id": "ENSP00000610980.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 305,
"cds_start": 389,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940921.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Pro130Leu",
"transcript": "ENST00000881797.1",
"protein_id": "ENSP00000551856.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 301,
"cds_start": 389,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881797.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Pro130Leu",
"transcript": "ENST00000881799.1",
"protein_id": "ENSP00000551858.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 298,
"cds_start": 389,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881799.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Pro130Leu",
"transcript": "ENST00000881798.1",
"protein_id": "ENSP00000551857.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 297,
"cds_start": 389,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881798.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Pro130Leu",
"transcript": "ENST00000940922.1",
"protein_id": "ENSP00000610981.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 296,
"cds_start": 389,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940922.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "NM_198723.2",
"protein_id": "NP_942016.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 272,
"cds_start": 308,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198723.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "ENST00000361317.6",
"protein_id": "ENSP00000354552.2",
"transcript_support_level": 2,
"aa_start": 103,
"aa_end": null,
"aa_length": 272,
"cds_start": 308,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361317.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Pro130Leu",
"transcript": "ENST00000935688.1",
"protein_id": "ENSP00000605747.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 271,
"cds_start": 389,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935688.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "ENST00000458442.1",
"protein_id": "ENSP00000416026.1",
"transcript_support_level": 5,
"aa_start": 103,
"aa_end": null,
"aa_length": 269,
"cds_start": 308,
"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": "ENST00000458442.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "ENST00000339217.8",
"protein_id": "ENSP00000339432.4",
"transcript_support_level": 3,
"aa_start": 103,
"aa_end": null,
"aa_length": 245,
"cds_start": 308,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339217.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "ENST00000440819.5",
"protein_id": "ENSP00000407085.1",
"transcript_support_level": 5,
"aa_start": 103,
"aa_end": null,
"aa_length": 245,
"cds_start": 308,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440819.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Pro130Leu",
"transcript": "XM_005260229.5",
"protein_id": "XP_005260286.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 324,
"cds_start": 389,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260229.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_024451976.2",
"protein_id": "XP_024307744.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451976.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_024451981.2",
"protein_id": "XP_024307749.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451981.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_024451983.2",
"protein_id": "XP_024307751.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451983.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_024451984.1",
"protein_id": "XP_024307752.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451984.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_024451985.2",
"protein_id": "XP_024307753.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451985.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_024451986.2",
"protein_id": "XP_024307754.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451986.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_047440430.1",
"protein_id": "XP_047296386.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440430.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_047440431.1",
"protein_id": "XP_047296387.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440431.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_047440432.1",
"protein_id": "XP_047296388.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440432.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_047440433.1",
"protein_id": "XP_047296389.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440433.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_047440434.1",
"protein_id": "XP_047296390.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440434.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_047440435.1",
"protein_id": "XP_047296391.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440435.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_047440436.1",
"protein_id": "XP_047296392.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440436.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_047440437.1",
"protein_id": "XP_047296393.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440437.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_047440438.1",
"protein_id": "XP_047296394.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440438.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_047440439.1",
"protein_id": "XP_047296395.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440439.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_047440440.1",
"protein_id": "XP_047296396.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 297,
"cds_start": 308,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440440.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_047440441.1",
"protein_id": "XP_047296397.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 272,
"cds_start": 308,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440441.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "XM_047440442.1",
"protein_id": "XP_047296398.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 272,
"cds_start": 308,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "n.1243C>T",
"hgvs_p": null,
"transcript": "ENST00000465111.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000465111.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "n.-44C>T",
"hgvs_p": null,
"transcript": "ENST00000465433.5",
"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": "ENST00000465433.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"hgvs_c": "n.*48C>T",
"hgvs_p": null,
"transcript": "ENST00000470559.5",
"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": "ENST00000470559.5"
}
],
"gene_symbol": "TCEA2",
"gene_hgnc_id": 11614,
"dbsnp": "rs372369033",
"frequency_reference_population": 0.000027282626,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000260177,
"gnomad_genomes_af": 0.0000394203,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16605907678604126,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.1,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.15,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003195.6",
"gene_symbol": "TCEA2",
"hgnc_id": 11614,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Pro130Leu"
}
],
"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
}