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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: 20-36591177-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36591177&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 36591177,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_021809.7",
"consequences": [
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "NM_021809.7",
"protein_id": "NP_068581.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373872.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021809.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000373872.9",
"protein_id": "ENSP00000362979.3",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021809.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373872.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TGIF2-RAB5IF",
"gene_hgnc_id": 44664,
"hgvs_c": "c.192+12211C>T",
"hgvs_p": null,
"transcript": "ENST00000558530.1",
"protein_id": "ENSP00000454021.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": null,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558530.1"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "NM_001199513.2",
"protein_id": "NP_001186442.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199513.2"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "NM_001199514.2",
"protein_id": "NP_001186443.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199514.2"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "NM_001199515.2",
"protein_id": "NP_001186444.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199515.2"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000373874.6",
"protein_id": "ENSP00000362981.2",
"transcript_support_level": 2,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373874.6"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000611732.4",
"protein_id": "ENSP00000481787.1",
"transcript_support_level": 2,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611732.4"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000650844.1",
"protein_id": "ENSP00000498657.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650844.1"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000874678.1",
"protein_id": "ENSP00000544737.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874678.1"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000874679.1",
"protein_id": "ENSP00000544738.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874679.1"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000874680.1",
"protein_id": "ENSP00000544739.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874680.1"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000874681.1",
"protein_id": "ENSP00000544740.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874681.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000874682.1",
"protein_id": "ENSP00000544741.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874682.1"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000914035.1",
"protein_id": "ENSP00000584094.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914035.1"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000914036.1",
"protein_id": "ENSP00000584095.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914036.1"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000914037.1",
"protein_id": "ENSP00000584096.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914037.1"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000914038.1",
"protein_id": "ENSP00000584097.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914038.1"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000914039.1",
"protein_id": "ENSP00000584098.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914039.1"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000914040.1",
"protein_id": "ENSP00000584099.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914040.1"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000914041.1",
"protein_id": "ENSP00000584100.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914041.1"
},
{
"aa_ref": "P",
"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": "TGIF2",
"gene_hgnc_id": 15764,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "ENST00000914042.1",
"protein_id": "ENSP00000584101.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 237,
"cds_start": 460,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914042.1"
},
{
"aa_ref": "P",
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"protein_coding": true,
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{
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"feature": "ENST00000560025.1"
},
{
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"protein_coding": true,
"strand": true,
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],
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"transcript": "ENST00000558028.5",
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},
{
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"intron_variant"
],
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"exon_count": 5,
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"gene_symbol": "TGIF2-RAB5IF",
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"transcript": "NM_001199535.2",
"protein_id": "NP_001186464.1",
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"biotype": "protein_coding",
"feature": "NM_001199535.2"
},
{
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"intron_variant"
],
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"transcript": "ENST00000557885.1",
"protein_id": "ENSP00000476174.1",
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"feature": "ENST00000557885.1"
},
{
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"intron_variant"
],
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"gene_symbol": "TGIF2",
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"hgvs_c": "c.160-328C>T",
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"transcript": "ENST00000561398.1",
"protein_id": "ENSP00000475729.1",
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"biotype": "protein_coding",
"feature": "ENST00000561398.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "TGIF2",
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"hgvs_c": "c.43-379C>T",
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"transcript": "ENST00000558465.1",
"protein_id": "ENSP00000475479.1",
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"aa_length": 35,
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"cds_end": null,
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"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558465.1"
}
],
"gene_symbol": "TGIF2",
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"dbsnp": null,
"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": 0.11465579271316528,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.0702,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.356,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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_021809.7",
"gene_symbol": "TGIF2",
"hgnc_id": 15764,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001199535.2",
"gene_symbol": "TGIF2-RAB5IF",
"hgnc_id": 44664,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.192+12211C>T",
"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
}