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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: 9-122378015-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=122378015&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 122378015,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_000962.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Pro71Ser",
"transcript": "NM_000962.4",
"protein_id": "NP_000953.2",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 599,
"cds_start": 211,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": "ENST00000362012.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000962.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Pro71Ser",
"transcript": "ENST00000362012.7",
"protein_id": "ENSP00000354612.2",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 599,
"cds_start": 211,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": "NM_000962.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000362012.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Pro71Ser",
"transcript": "ENST00000223423.8",
"protein_id": "ENSP00000223423.4",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 562,
"cds_start": 211,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223423.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Pro71Ser",
"transcript": "ENST00000863393.1",
"protein_id": "ENSP00000533452.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 617,
"cds_start": 211,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863393.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Pro71Ser",
"transcript": "NM_080591.3",
"protein_id": "NP_542158.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 562,
"cds_start": 211,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080591.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Pro71Ser",
"transcript": "NM_001271164.2",
"protein_id": "NP_001258093.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 551,
"cds_start": 211,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 4876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271164.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Pro71Ser",
"transcript": "ENST00000619306.5",
"protein_id": "ENSP00000483540.2",
"transcript_support_level": 5,
"aa_start": 71,
"aa_end": null,
"aa_length": 551,
"cds_start": 211,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 1766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619306.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Pro46Ser",
"transcript": "NM_001271368.2",
"protein_id": "NP_001258297.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 537,
"cds_start": 136,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 5373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271368.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.136C>T",
"hgvs_p": "p.Pro46Ser",
"transcript": "ENST00000540753.6",
"protein_id": "ENSP00000437709.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 537,
"cds_start": 136,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540753.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Pro71Ser",
"transcript": "ENST00000863390.1",
"protein_id": "ENSP00000533449.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 514,
"cds_start": 211,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 4769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.-117C>T",
"hgvs_p": null,
"transcript": "NM_001271165.2",
"protein_id": "NP_001258094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": null,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271165.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.-117C>T",
"hgvs_p": null,
"transcript": "ENST00000373698.7",
"protein_id": "ENSP00000362802.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": null,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373698.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.-117C>T",
"hgvs_p": null,
"transcript": "NM_001271166.2",
"protein_id": "NP_001258095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": null,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271166.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.-117C>T",
"hgvs_p": null,
"transcript": "NM_001271367.2",
"protein_id": "NP_001258296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": null,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271367.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.-117C>T",
"hgvs_p": null,
"transcript": "ENST00000643810.1",
"protein_id": "ENSP00000494717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 401,
"cds_start": null,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643810.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.-117C>T",
"hgvs_p": null,
"transcript": "NM_001271165.2",
"protein_id": "NP_001258094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": null,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271165.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.-117C>T",
"hgvs_p": null,
"transcript": "ENST00000373698.7",
"protein_id": "ENSP00000362802.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": null,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373698.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.-117C>T",
"hgvs_p": null,
"transcript": "NM_001271166.2",
"protein_id": "NP_001258095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": null,
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"cds_length": 1362,
"cdna_start": null,
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"cdna_length": 5151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271166.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.-117C>T",
"hgvs_p": null,
"transcript": "NM_001271367.2",
"protein_id": "NP_001258296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271367.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.-117C>T",
"hgvs_p": null,
"transcript": "ENST00000643810.1",
"protein_id": "ENSP00000494717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 401,
"cds_start": null,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643810.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.95-418C>T",
"hgvs_p": null,
"transcript": "ENST00000863392.1",
"protein_id": "ENSP00000533451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 523,
"cds_start": null,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863392.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.8-418C>T",
"hgvs_p": null,
"transcript": "ENST00000863389.1",
"protein_id": "ENSP00000533448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": null,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4711,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000863389.1"
},
{
"aa_ref": null,
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"canonical": false,
"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": "PTGS1",
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"hgvs_c": "c.94+6743C>T",
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"transcript": "ENST00000863391.1",
"protein_id": "ENSP00000533450.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": null,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863391.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
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"hgvs_c": "c.95-418C>T",
"hgvs_p": null,
"transcript": "ENST00000426608.6",
"protein_id": "ENSP00000411606.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426608.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
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"hgvs_c": "n.305C>T",
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"transcript": "ENST00000643576.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000643576.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "n.378C>T",
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"transcript": "ENST00000645132.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1880,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000645132.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "n.*56C>T",
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"transcript": "ENST00000647067.1",
"protein_id": "ENSP00000495728.1",
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"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": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647067.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "n.*56C>T",
"hgvs_p": null,
"transcript": "ENST00000647067.1",
"protein_id": "ENSP00000495728.1",
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"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": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000647067.1"
}
],
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"dbsnp": "rs143357990",
"frequency_reference_population": 0.0005038821,
"hom_count_reference_population": 3,
"allele_count_reference_population": 812,
"gnomad_exomes_af": 0.00035432,
"gnomad_genomes_af": 0.00193625,
"gnomad_exomes_ac": 517,
"gnomad_genomes_ac": 295,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011175096035003662,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7699999809265137,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.475,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1428,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.168,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.991935911457912,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_000962.4",
"gene_symbol": "PTGS1",
"hgnc_id": 9604,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "SD,AD,AR",
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Pro71Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}