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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: 8-91975938-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=91975938&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 91975938,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001198679.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Arg",
"transcript": "NM_175634.3",
"protein_id": "NP_783552.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 604,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000523629.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175634.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Arg",
"transcript": "ENST00000523629.7",
"protein_id": "ENSP00000428543.1",
"transcript_support_level": 5,
"aa_start": 439,
"aa_end": null,
"aa_length": 604,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_175634.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523629.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Gly412Arg",
"transcript": "ENST00000396218.5",
"protein_id": "ENSP00000379520.1",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 577,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396218.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Gly412Arg",
"transcript": "ENST00000518844.5",
"protein_id": "ENSP00000430728.1",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 577,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518844.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Gly402Arg",
"transcript": "ENST00000360348.6",
"protein_id": "ENSP00000353504.2",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 567,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360348.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Gly402Arg",
"transcript": "ENST00000422361.6",
"protein_id": "ENSP00000390137.2",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 567,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422361.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "n.*186G>A",
"hgvs_p": null,
"transcript": "ENST00000521751.5",
"protein_id": "ENSP00000430778.1",
"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": "ENST00000521751.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "n.*186G>A",
"hgvs_p": null,
"transcript": "ENST00000521751.5",
"protein_id": "ENSP00000430778.1",
"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": "ENST00000521751.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Gly498Arg",
"transcript": "NM_001198679.3",
"protein_id": "NP_001185608.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 663,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198679.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Gly498Arg",
"transcript": "ENST00000436581.7",
"protein_id": "ENSP00000402257.3",
"transcript_support_level": 5,
"aa_start": 498,
"aa_end": null,
"aa_length": 663,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436581.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Gly467Arg",
"transcript": "NM_001395209.1",
"protein_id": "NP_001382138.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 632,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395209.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Gly450Arg",
"transcript": "NM_001198634.2",
"protein_id": "NP_001185563.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 615,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198634.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Gly450Arg",
"transcript": "ENST00000520724.5",
"protein_id": "ENSP00000428742.2",
"transcript_support_level": 2,
"aa_start": 450,
"aa_end": null,
"aa_length": 615,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520724.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Arg",
"transcript": "NM_001198626.2",
"protein_id": "NP_001185555.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 604,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198626.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Arg",
"transcript": "NM_001198627.2",
"protein_id": "NP_001185556.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 604,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198627.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Arg",
"transcript": "NM_001198628.2",
"protein_id": "NP_001185557.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 604,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198628.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Arg",
"transcript": "NM_001198629.2",
"protein_id": "NP_001185558.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 604,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198629.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Arg",
"transcript": "NM_001198630.2",
"protein_id": "NP_001185559.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 604,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198630.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Arg",
"transcript": "NM_001198631.2",
"protein_id": "NP_001185560.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 604,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198631.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Arg",
"transcript": "ENST00000517919.6",
"protein_id": "ENSP00000429506.2",
"transcript_support_level": 4,
"aa_start": 439,
"aa_end": null,
"aa_length": 604,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517919.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Arg",
"transcript": "ENST00000518954.6",
"protein_id": "ENSP00000430080.2",
"transcript_support_level": 4,
"aa_start": 439,
"aa_end": null,
"aa_length": 604,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518954.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
"gene_hgnc_id": 1535,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Arg",
"transcript": "ENST00000519847.6",
"protein_id": "ENSP00000430204.2",
"transcript_support_level": 5,
"aa_start": 439,
"aa_end": null,
"aa_length": 604,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
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"feature": "ENST00000522163.6"
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "ENSG00000253576",
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"hgvs_c": "n.31C>T",
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"transcript": "ENST00000522980.1",
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"transcript_support_level": 3,
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"biotype": "pseudogene",
"feature": "ENST00000522980.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 11,
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"gene_symbol": "RUNX1T1",
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"transcript": "XR_007060758.1",
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"cds_end": null,
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"biotype": "pseudogene",
"feature": "XR_007060758.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "RUNX1T1",
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"hgvs_c": "n.*679G>A",
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"transcript": "ENST00000520978.5",
"protein_id": "ENSP00000429085.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000520978.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
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"intron_rank_end": null,
"gene_symbol": "RUNX1T1",
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"hgvs_c": "n.*1340G>A",
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"transcript": "ENST00000522163.6",
"protein_id": "ENSP00000516585.1",
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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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000522163.6"
}
],
"gene_symbol": "RUNX1T1",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8445258140563965,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.62,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8561,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.849,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001198679.3",
"gene_symbol": "RUNX1T1",
"hgnc_id": 1535,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1492G>A",
"hgvs_p": "p.Gly498Arg"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000522980.1",
"gene_symbol": "ENSG00000253576",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.31C>T",
"hgvs_p": null
}
],
"clinvar_disease": "RUNX1-IT1 related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "RUNX1-IT1 related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}