← 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: 8-133096302-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=133096302&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 133096302,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003235.5",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.7501T>C",
"hgvs_p": "p.Trp2501Arg",
"transcript": "NM_003235.5",
"protein_id": "NP_003226.4",
"transcript_support_level": null,
"aa_start": 2501,
"aa_end": null,
"aa_length": 2768,
"cds_start": 7501,
"cds_end": null,
"cds_length": 8307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220616.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003235.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.7501T>C",
"hgvs_p": "p.Trp2501Arg",
"transcript": "ENST00000220616.9",
"protein_id": "ENSP00000220616.4",
"transcript_support_level": 1,
"aa_start": 2501,
"aa_end": null,
"aa_length": 2768,
"cds_start": 7501,
"cds_end": null,
"cds_length": 8307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003235.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220616.9"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.-319+6251A>G",
"hgvs_p": null,
"transcript": "NM_001045556.3",
"protein_id": "NP_001039021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": null,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338087.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001045556.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.-319+6251A>G",
"hgvs_p": null,
"transcript": "ENST00000338087.10",
"protein_id": "ENSP00000337548.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": null,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001045556.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338087.10"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.11+6251A>G",
"hgvs_p": null,
"transcript": "ENST00000395352.7",
"protein_id": "ENSP00000378759.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395352.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "n.*3714T>C",
"hgvs_p": null,
"transcript": "ENST00000523756.5",
"protein_id": "ENSP00000428628.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000523756.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "n.*3714T>C",
"hgvs_p": null,
"transcript": "ENST00000523756.5",
"protein_id": "ENSP00000428628.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000523756.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "n.324+6251A>G",
"hgvs_p": null,
"transcript": "ENST00000518565.5",
"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": "pseudogene",
"feature": "ENST00000518565.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.2866T>C",
"hgvs_p": "p.Trp956Arg",
"transcript": "ENST00000519178.5",
"protein_id": "ENSP00000430523.1",
"transcript_support_level": 2,
"aa_start": 956,
"aa_end": null,
"aa_length": 1223,
"cds_start": 2866,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519178.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.1900T>C",
"hgvs_p": "p.Trp634Arg",
"transcript": "ENST00000519543.5",
"protein_id": "ENSP00000430430.1",
"transcript_support_level": 2,
"aa_start": 634,
"aa_end": null,
"aa_length": 901,
"cds_start": 1900,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519543.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.7438T>C",
"hgvs_p": "p.Trp2480Arg",
"transcript": "XM_006716622.4",
"protein_id": "XP_006716685.1",
"transcript_support_level": null,
"aa_start": 2480,
"aa_end": null,
"aa_length": 2747,
"cds_start": 7438,
"cds_end": null,
"cds_length": 8244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716622.4"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.7435T>C",
"hgvs_p": "p.Trp2479Arg",
"transcript": "XM_017013793.2",
"protein_id": "XP_016869282.1",
"transcript_support_level": null,
"aa_start": 2479,
"aa_end": null,
"aa_length": 2746,
"cds_start": 7435,
"cds_end": null,
"cds_length": 8241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013793.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.7501T>C",
"hgvs_p": "p.Trp2501Arg",
"transcript": "XM_017013794.2",
"protein_id": "XP_016869283.1",
"transcript_support_level": null,
"aa_start": 2501,
"aa_end": null,
"aa_length": 2723,
"cds_start": 7501,
"cds_end": null,
"cds_length": 8172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013794.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.7330T>C",
"hgvs_p": "p.Trp2444Arg",
"transcript": "XM_017013795.2",
"protein_id": "XP_016869284.1",
"transcript_support_level": null,
"aa_start": 2444,
"aa_end": null,
"aa_length": 2711,
"cds_start": 7330,
"cds_end": null,
"cds_length": 8136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013795.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.7309T>C",
"hgvs_p": "p.Trp2437Arg",
"transcript": "XM_005251038.5",
"protein_id": "XP_005251095.1",
"transcript_support_level": null,
"aa_start": 2437,
"aa_end": null,
"aa_length": 2704,
"cds_start": 7309,
"cds_end": null,
"cds_length": 8115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251038.5"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.7282T>C",
"hgvs_p": "p.Trp2428Arg",
"transcript": "XM_017013796.2",
"protein_id": "XP_016869285.1",
"transcript_support_level": null,
"aa_start": 2428,
"aa_end": null,
"aa_length": 2695,
"cds_start": 7282,
"cds_end": null,
"cds_length": 8088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013796.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.7240T>C",
"hgvs_p": "p.Trp2414Arg",
"transcript": "XM_047422166.1",
"protein_id": "XP_047278122.1",
"transcript_support_level": null,
"aa_start": 2414,
"aa_end": null,
"aa_length": 2681,
"cds_start": 7240,
"cds_end": null,
"cds_length": 8046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422166.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.11+6251A>G",
"hgvs_p": null,
"transcript": "NM_001045557.3",
"protein_id": "NP_001039022.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001045557.3"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.11+6251A>G",
"hgvs_p": null,
"transcript": "NM_001282964.2",
"protein_id": "NP_001269893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282964.2"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.11+6251A>G",
"hgvs_p": null,
"transcript": "ENST00000517648.5",
"protein_id": "ENSP00000428559.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517648.5"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.-264+6251A>G",
"hgvs_p": null,
"transcript": "NM_001282965.2",
"protein_id": "NP_001269894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"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": "NM_001282965.2"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.-264+6251A>G",
"hgvs_p": null,
"transcript": "ENST00000524345.5",
"protein_id": "ENSP00000427928.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"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": "ENST00000524345.5"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.-41+6098A>G",
"hgvs_p": null,
"transcript": "ENST00000522119.5",
"protein_id": "ENSP00000430596.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": null,
"cds_end": null,
"cds_length": 476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522119.5"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.-442+6251A>G",
"hgvs_p": null,
"transcript": "ENST00000519341.5",
"protein_id": "ENSP00000429681.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 90,
"cds_start": null,
"cds_end": null,
"cds_length": 274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519341.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.-388+6251A>G",
"hgvs_p": null,
"transcript": "ENST00000521302.5",
"protein_id": "ENSP00000430184.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 47,
"cds_start": null,
"cds_end": null,
"cds_length": 146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521302.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.-319+6098A>G",
"hgvs_p": null,
"transcript": "ENST00000523610.5",
"protein_id": "ENSP00000428087.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 39,
"cds_start": null,
"cds_end": null,
"cds_length": 121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523610.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.-419+6251A>G",
"hgvs_p": null,
"transcript": "ENST00000519747.5",
"protein_id": "ENSP00000428971.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 27,
"cds_start": null,
"cds_end": null,
"cds_length": 85,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519747.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.-468+6251A>G",
"hgvs_p": null,
"transcript": "ENST00000519558.5",
"protein_id": "ENSP00000429143.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 13,
"cds_start": null,
"cds_end": null,
"cds_length": 43,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519558.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "n.147T>C",
"hgvs_p": null,
"transcript": "ENST00000522809.1",
"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": "ENST00000522809.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "n.683T>C",
"hgvs_p": null,
"transcript": "ENST00000522996.5",
"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": "ENST00000522996.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "n.61-6187A>G",
"hgvs_p": null,
"transcript": "ENST00000517932.1",
"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": "ENST00000517932.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "n.76+6251A>G",
"hgvs_p": null,
"transcript": "ENST00000521823.5",
"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": "ENST00000521823.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "n.143+6098A>G",
"hgvs_p": null,
"transcript": "ENST00000522946.5",
"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": "ENST00000522946.5"
}
],
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"dbsnp": "rs2069569",
"frequency_reference_population": 0.5245548,
"hom_count_reference_population": 228035,
"allele_count_reference_population": 846600,
"gnomad_exomes_af": 0.518228,
"gnomad_genomes_af": 0.585367,
"gnomad_exomes_ac": 757575,
"gnomad_genomes_ac": 89025,
"gnomad_exomes_homalt": 200444,
"gnomad_genomes_homalt": 27591,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000001360386249871226,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.3,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0508,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.108,
"phylop100way_prediction": "Benign",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_003235.5",
"gene_symbol": "TG",
"hgnc_id": 11764,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.7501T>C",
"hgvs_p": "p.Trp2501Arg"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001045557.3",
"gene_symbol": "SLA",
"hgnc_id": 10902,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.11+6251A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Iodotyrosyl coupling defect,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Iodotyrosyl coupling defect|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}