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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: 11-43854785-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=43854785&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 43854785,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016142.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Pro252Leu",
"transcript": "NM_016142.3",
"protein_id": "NP_057226.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 312,
"cds_start": 755,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278353.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016142.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Pro252Leu",
"transcript": "ENST00000278353.10",
"protein_id": "ENSP00000278353.4",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 312,
"cds_start": 755,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016142.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278353.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "n.2739C>T",
"hgvs_p": null,
"transcript": "ENST00000525736.1",
"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": "retained_intron",
"feature": "ENST00000525736.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Pro252Leu",
"transcript": "ENST00000865203.1",
"protein_id": "ENSP00000535262.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 312,
"cds_start": 755,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865203.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"transcript": "ENST00000865204.1",
"protein_id": "ENSP00000535263.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 311,
"cds_start": 752,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865204.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Pro249Leu",
"transcript": "ENST00000925444.1",
"protein_id": "ENSP00000595503.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 309,
"cds_start": 746,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925444.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.710C>T",
"hgvs_p": "p.Pro237Leu",
"transcript": "ENST00000966177.1",
"protein_id": "ENSP00000636236.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 297,
"cds_start": 710,
"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": "ENST00000966177.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.707C>T",
"hgvs_p": "p.Pro236Leu",
"transcript": "ENST00000925445.1",
"protein_id": "ENSP00000595504.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 296,
"cds_start": 707,
"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": "ENST00000925445.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Pro230Leu",
"transcript": "ENST00000925446.1",
"protein_id": "ENSP00000595505.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 290,
"cds_start": 689,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925446.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.647C>T",
"hgvs_p": "p.Pro216Leu",
"transcript": "ENST00000637401.1",
"protein_id": "ENSP00000490421.1",
"transcript_support_level": 4,
"aa_start": 216,
"aa_end": null,
"aa_length": 276,
"cds_start": 647,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637401.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "ENST00000925447.1",
"protein_id": "ENSP00000595506.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 270,
"cds_start": 629,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925447.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Pro191Leu",
"transcript": "ENST00000865207.1",
"protein_id": "ENSP00000535266.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 251,
"cds_start": 572,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865207.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Pro190Leu",
"transcript": "ENST00000865208.1",
"protein_id": "ENSP00000535267.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 250,
"cds_start": 569,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865208.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.524C>T",
"hgvs_p": "p.Pro175Leu",
"transcript": "ENST00000865206.1",
"protein_id": "ENSP00000535265.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 235,
"cds_start": 524,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865206.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Pro220Leu",
"transcript": "XM_017017881.2",
"protein_id": "XP_016873370.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 280,
"cds_start": 659,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017881.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Pro178Leu",
"transcript": "XM_011520156.2",
"protein_id": "XP_011518458.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 238,
"cds_start": 533,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520156.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Pro178Leu",
"transcript": "XM_024448571.2",
"protein_id": "XP_024304339.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 238,
"cds_start": 533,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448571.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Pro178Leu",
"transcript": "XM_024448572.2",
"protein_id": "XP_024304340.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 238,
"cds_start": 533,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448572.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Pro178Leu",
"transcript": "XM_024448573.2",
"protein_id": "XP_024304341.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 238,
"cds_start": 533,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448573.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Pro178Leu",
"transcript": "XM_047427074.1",
"protein_id": "XP_047283030.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 238,
"cds_start": 533,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427074.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.362-33C>T",
"hgvs_p": null,
"transcript": "ENST00000865205.1",
"protein_id": "ENSP00000535264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865205.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "n.1167C>T",
"hgvs_p": null,
"transcript": "ENST00000533090.6",
"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": "retained_intron",
"feature": "ENST00000533090.6"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "n.270C>T",
"hgvs_p": null,
"transcript": "ENST00000533802.5",
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"transcript_support_level": 3,
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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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000533802.5"
},
{
"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": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "n.*102C>T",
"hgvs_p": null,
"transcript": "ENST00000636007.1",
"protein_id": "ENSP00000490822.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000636007.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "n.*102C>T",
"hgvs_p": null,
"transcript": "ENST00000636007.1",
"protein_id": "ENSP00000490822.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000636007.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000246250",
"gene_hgnc_id": null,
"hgvs_c": "n.248-6269G>A",
"hgvs_p": null,
"transcript": "ENST00000530450.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000530450.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000246250",
"gene_hgnc_id": null,
"hgvs_c": "n.133-7458G>A",
"hgvs_p": null,
"transcript": "ENST00000720674.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000720674.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "n.*4C>T",
"hgvs_p": null,
"transcript": "ENST00000534053.1",
"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": "retained_intron",
"feature": "ENST00000534053.1"
}
],
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"dbsnp": "rs764792567",
"frequency_reference_population": 0.000060098686,
"hom_count_reference_population": 0,
"allele_count_reference_population": 97,
"gnomad_exomes_af": 0.0000574613,
"gnomad_genomes_af": 0.0000854375,
"gnomad_exomes_ac": 84,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2762846052646637,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.307,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7089,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.537,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016142.3",
"gene_symbol": "HSD17B12",
"hgnc_id": 18646,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.755C>T",
"hgvs_p": "p.Pro252Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000530450.1",
"gene_symbol": "ENSG00000246250",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.248-6269G>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
}