← 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: 17-47916262-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47916262&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 47916262,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003110.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Pro64Leu",
"transcript": "NM_003110.6",
"protein_id": "NP_003101.3",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 613,
"cds_start": 191,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376741.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003110.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Pro64Leu",
"transcript": "ENST00000376741.5",
"protein_id": "ENSP00000365931.4",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 613,
"cds_start": 191,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003110.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376741.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.146C>T",
"hgvs_p": "p.Pro49Leu",
"transcript": "ENST00000884863.1",
"protein_id": "ENSP00000554922.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 598,
"cds_start": 146,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884863.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Pro64Leu",
"transcript": "ENST00000884862.1",
"protein_id": "ENSP00000554921.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 399,
"cds_start": 191,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884862.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Pro57Leu",
"transcript": "ENST00000637314.1",
"protein_id": "ENSP00000490512.1",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 96,
"cds_start": 170,
"cds_end": null,
"cds_length": 292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637314.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Pro168Leu",
"transcript": "XM_011525136.3",
"protein_id": "XP_011523438.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 771,
"cds_start": 503,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525136.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Pro168Leu",
"transcript": "XM_011525137.3",
"protein_id": "XP_011523439.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 768,
"cds_start": 503,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525137.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Pro168Leu",
"transcript": "XM_011525138.3",
"protein_id": "XP_011523440.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 760,
"cds_start": 503,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525138.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Pro168Leu",
"transcript": "XM_011525140.3",
"protein_id": "XP_011523442.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 717,
"cds_start": 503,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525140.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Pro64Leu",
"transcript": "XM_006722023.3",
"protein_id": "XP_006722086.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 667,
"cds_start": 191,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722023.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Pro64Leu",
"transcript": "XM_047436569.1",
"protein_id": "XP_047292525.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 664,
"cds_start": 191,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436569.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Pro57Leu",
"transcript": "XM_006722025.3",
"protein_id": "XP_006722088.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 660,
"cds_start": 170,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722025.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Pro57Leu",
"transcript": "XM_006722027.3",
"protein_id": "XP_006722090.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 660,
"cds_start": 170,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722027.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Pro57Leu",
"transcript": "XM_011525139.3",
"protein_id": "XP_011523441.2",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 660,
"cds_start": 170,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525139.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Pro57Leu",
"transcript": "XM_011525143.2",
"protein_id": "XP_011523445.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 660,
"cds_start": 170,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525143.2"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Pro57Leu",
"transcript": "XM_017024968.2",
"protein_id": "XP_016880457.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 660,
"cds_start": 170,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024968.2"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Pro57Leu",
"transcript": "XM_047436570.1",
"protein_id": "XP_047292526.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 660,
"cds_start": 170,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436570.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Pro57Leu",
"transcript": "XM_047436571.1",
"protein_id": "XP_047292527.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 660,
"cds_start": 170,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436571.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Pro57Leu",
"transcript": "XM_047436572.1",
"protein_id": "XP_047292528.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 660,
"cds_start": 170,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436572.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Pro57Leu",
"transcript": "XM_047436573.1",
"protein_id": "XP_047292529.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 660,
"cds_start": 170,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436573.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Pro57Leu",
"transcript": "XM_047436575.1",
"protein_id": "XP_047292531.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 657,
"cds_start": 170,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436575.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Pro64Leu",
"transcript": "XM_047436576.1",
"protein_id": "XP_047292532.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 656,
"cds_start": 191,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436576.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.170C>T",
"hgvs_p": "p.Pro57Leu",
"transcript": "XM_047436577.1",
"protein_id": "XP_047292533.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 606,
"cds_start": 170,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436577.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.84+874C>T",
"hgvs_p": null,
"transcript": "ENST00000884861.1",
"protein_id": "ENSP00000554920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": null,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884861.1"
},
{
"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": "SP2-AS1",
"gene_hgnc_id": 51341,
"hgvs_c": "n.177+2190G>A",
"hgvs_p": null,
"transcript": "ENST00000411573.7",
"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": "ENST00000411573.7"
},
{
"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": "SP2-AS1",
"gene_hgnc_id": 51341,
"hgvs_c": "n.165+2190G>A",
"hgvs_p": null,
"transcript": "ENST00000433001.2",
"protein_id": null,
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000433001.2"
},
{
"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": "SP2-AS1",
"gene_hgnc_id": 51341,
"hgvs_c": "n.195+2190G>A",
"hgvs_p": null,
"transcript": "ENST00000451140.6",
"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": "ENST00000451140.6"
},
{
"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": "SP2-AS1",
"gene_hgnc_id": 51341,
"hgvs_c": "n.174+2190G>A",
"hgvs_p": null,
"transcript": "ENST00000585280.5",
"protein_id": null,
"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,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000585280.5"
},
{
"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": "SP2-AS1",
"gene_hgnc_id": 51341,
"hgvs_c": "n.178+2190G>A",
"hgvs_p": null,
"transcript": "ENST00000715779.1",
"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": "ENST00000715779.1"
},
{
"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": "SP2-AS1",
"gene_hgnc_id": 51341,
"hgvs_c": "n.178+2190G>A",
"hgvs_p": null,
"transcript": "ENST00000820515.1",
"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": "ENST00000820515.1"
},
{
"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": "SP2-AS1",
"gene_hgnc_id": 51341,
"hgvs_c": "n.202+2190G>A",
"hgvs_p": null,
"transcript": "ENST00000820516.1",
"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": "ENST00000820516.1"
},
{
"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": "SP2-AS1",
"gene_hgnc_id": 51341,
"hgvs_c": "n.202+2190G>A",
"hgvs_p": null,
"transcript": "ENST00000820517.1",
"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": "ENST00000820517.1"
},
{
"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": "SP2-AS1",
"gene_hgnc_id": 51341,
"hgvs_c": "n.184+2190G>A",
"hgvs_p": null,
"transcript": "ENST00000820518.1",
"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": "ENST00000820518.1"
},
{
"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": "SP2-AS1",
"gene_hgnc_id": 51341,
"hgvs_c": "n.177+2190G>A",
"hgvs_p": null,
"transcript": "ENST00000820519.1",
"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": "ENST00000820519.1"
},
{
"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": "SP2-AS1",
"gene_hgnc_id": 51341,
"hgvs_c": "n.168+2190G>A",
"hgvs_p": null,
"transcript": "ENST00000820520.1",
"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": "ENST00000820520.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SP2-AS1",
"gene_hgnc_id": 51341,
"hgvs_c": "n.327+2190G>A",
"hgvs_p": null,
"transcript": "ENST00000820521.1",
"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": "ENST00000820521.1"
},
{
"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": "SP2-AS1",
"gene_hgnc_id": 51341,
"hgvs_c": "n.177+2190G>A",
"hgvs_p": null,
"transcript": "ENST00000820522.1",
"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": "ENST00000820522.1"
},
{
"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": "SP2-AS1",
"gene_hgnc_id": 51341,
"hgvs_c": "n.189+2190G>A",
"hgvs_p": null,
"transcript": "NR_103856.1",
"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": "NR_103856.1"
},
{
"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": "SP2-AS1",
"gene_hgnc_id": 51341,
"hgvs_c": "n.178+2190G>A",
"hgvs_p": null,
"transcript": "NR_103857.1",
"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": "NR_103857.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.*10C>T",
"hgvs_p": null,
"transcript": "ENST00000637943.1",
"protein_id": "ENSP00000490351.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 52,
"cds_start": null,
"cds_end": null,
"cds_length": 160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637943.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "SP2",
"gene_hgnc_id": 11207,
"hgvs_c": "c.*39C>T",
"hgvs_p": null,
"transcript": "ENST00000635868.1",
"protein_id": "ENSP00000489736.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 42,
"cds_start": null,
"cds_end": null,
"cds_length": 131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635868.1"
}
],
"gene_symbol": "SP2",
"gene_hgnc_id": 11207,
"dbsnp": "rs754352270",
"frequency_reference_population": 0.00007682709,
"hom_count_reference_population": 0,
"allele_count_reference_population": 124,
"gnomad_exomes_af": 0.0000772971,
"gnomad_genomes_af": 0.0000723104,
"gnomad_exomes_ac": 113,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2464120090007782,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.3264,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.447,
"phylop100way_prediction": "Uncertain_significance",
"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_003110.6",
"gene_symbol": "SP2",
"hgnc_id": 11207,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Pro64Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000411573.7",
"gene_symbol": "SP2-AS1",
"hgnc_id": 51341,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.177+2190G>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
}