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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: 13-45339541-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=45339541&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 45339541,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001286272.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Ala119Ser",
"transcript": "NM_003295.4",
"protein_id": "NP_003286.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 172,
"cds_start": 355,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000530705.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003295.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Ala119Ser",
"transcript": "ENST00000530705.6",
"protein_id": "ENSP00000431872.2",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 172,
"cds_start": 355,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003295.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530705.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Ala119Ser",
"transcript": "ENST00000309246.9",
"protein_id": "ENSP00000339051.4",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 188,
"cds_start": 355,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309246.9"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Ala85Ser",
"transcript": "ENST00000379056.5",
"protein_id": "ENSP00000368345.1",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 138,
"cds_start": 253,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379056.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Ala119Ser",
"transcript": "NM_001286272.2",
"protein_id": "NP_001273201.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 197,
"cds_start": 355,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286272.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Ala119Ser",
"transcript": "ENST00000616577.4",
"protein_id": "ENSP00000477781.1",
"transcript_support_level": 3,
"aa_start": 119,
"aa_end": null,
"aa_length": 197,
"cds_start": 355,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616577.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Ala119Ser",
"transcript": "ENST00000929569.1",
"protein_id": "ENSP00000599628.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 184,
"cds_start": 355,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929569.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Ala119Ser",
"transcript": "ENST00000887579.1",
"protein_id": "ENSP00000557638.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 179,
"cds_start": 355,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887579.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Ala119Ser",
"transcript": "ENST00000887578.1",
"protein_id": "ENSP00000557637.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 177,
"cds_start": 355,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887578.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Ala119Ser",
"transcript": "ENST00000929562.1",
"protein_id": "ENSP00000599621.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 172,
"cds_start": 355,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929562.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Ala118Ser",
"transcript": "ENST00000929563.1",
"protein_id": "ENSP00000599622.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 171,
"cds_start": 352,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929563.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Ala115Ser",
"transcript": "ENST00000929566.1",
"protein_id": "ENSP00000599625.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 168,
"cds_start": 343,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929566.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.331G>T",
"hgvs_p": "p.Ala111Ser",
"transcript": "ENST00000929565.1",
"protein_id": "ENSP00000599624.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 164,
"cds_start": 331,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929565.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Ala118Ser",
"transcript": "ENST00000527226.2",
"protein_id": "ENSP00000433738.1",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 161,
"cds_start": 352,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527226.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Ala107Ser",
"transcript": "ENST00000379060.8",
"protein_id": "ENSP00000368350.4",
"transcript_support_level": 5,
"aa_start": 107,
"aa_end": null,
"aa_length": 160,
"cds_start": 319,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379060.8"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.319G>T",
"hgvs_p": "p.Ala107Ser",
"transcript": "ENST00000929568.1",
"protein_id": "ENSP00000599627.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 160,
"cds_start": 319,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929568.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Ala85Ser",
"transcript": "NM_001286273.2",
"protein_id": "NP_001273202.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 138,
"cds_start": 253,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286273.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Ala85Ser",
"transcript": "ENST00000379055.5",
"protein_id": "ENSP00000368344.1",
"transcript_support_level": 2,
"aa_start": 85,
"aa_end": null,
"aa_length": 138,
"cds_start": 253,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379055.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Ala119Ser",
"transcript": "ENST00000887580.1",
"protein_id": "ENSP00000557639.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 133,
"cds_start": 355,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887580.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.217G>T",
"hgvs_p": "p.Ala73Ser",
"transcript": "ENST00000929567.1",
"protein_id": "ENSP00000599626.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 126,
"cds_start": 217,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929567.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.103-765G>T",
"hgvs_p": null,
"transcript": "ENST00000929564.1",
"protein_id": "ENSP00000599623.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": null,
"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": "ENST00000929564.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"hgvs_c": "c.102+1171G>T",
"hgvs_p": null,
"transcript": "ENST00000929570.1",
"protein_id": "ENSP00000599629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 34,
"cds_start": null,
"cds_end": null,
"cds_length": 105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929570.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 1,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "TPT1",
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"transcript": "ENST00000484604.5",
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000484604.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 3,
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"gene_symbol": "TPT1",
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"hgvs_c": "n.758G>T",
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"transcript": "ENST00000490277.1",
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000490277.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
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"hgvs_c": "n.304G>T",
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"transcript": "ENST00000529421.5",
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"transcript_support_level": 3,
"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,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000529421.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TPT1",
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"hgvs_c": "n.265+453G>T",
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"transcript": "ENST00000533567.5",
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"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000533567.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "ENSG00000273149",
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"hgvs_c": "n.380-515C>A",
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"transcript": "ENST00000822409.1",
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"biotype": "pseudogene",
"feature": "ENST00000822409.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPT1",
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"hgvs_c": "c.-9G>T",
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"transcript": "ENST00000528619.5",
"protein_id": "ENSP00000433091.1",
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"aa_end": null,
"aa_length": 76,
"cds_start": null,
"cds_end": null,
"cds_length": 231,
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"biotype": "protein_coding",
"feature": "ENST00000528619.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "TPT1",
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"hgvs_c": "c.-9G>T",
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"transcript": "ENST00000530245.5",
"protein_id": "ENSP00000432457.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": null,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530245.5"
}
],
"gene_symbol": "TPT1",
"gene_hgnc_id": 12022,
"dbsnp": "rs779614359",
"frequency_reference_population": 0.000017350181,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000177888,
"gnomad_genomes_af": 0.0000131387,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10408788919448853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.055,
"revel_prediction": "Benign",
"alphamissense_score": 0.1749,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.093,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001286272.2",
"gene_symbol": "TPT1",
"hgnc_id": 12022,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Ala119Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000822409.1",
"gene_symbol": "ENSG00000273149",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.380-515C>A",
"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
}