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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: 2-177212837-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=177212837&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 177212837,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_194247.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "NM_194247.4",
"protein_id": "NP_919223.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 378,
"cds_start": 38,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 44,
"cdna_end": null,
"cdna_length": 5710,
"mane_select": "ENST00000392524.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194247.4"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000392524.7",
"protein_id": "ENSP00000376309.2",
"transcript_support_level": 5,
"aa_start": 13,
"aa_end": null,
"aa_length": 378,
"cds_start": 38,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 44,
"cdna_end": null,
"cdna_length": 5710,
"mane_select": "NM_194247.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392524.7"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000435711.5",
"protein_id": "ENSP00000416340.1",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 378,
"cds_start": 38,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 66,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435711.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "NM_001330249.2",
"protein_id": "NP_001317178.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 378,
"cds_start": 38,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 44,
"cdna_end": null,
"cdna_length": 3058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330249.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000678111.1",
"protein_id": "ENSP00000504135.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 378,
"cds_start": 38,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 114,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678111.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000947720.1",
"protein_id": "ENSP00000617779.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 378,
"cds_start": 38,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 1737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947720.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000861956.1",
"protein_id": "ENSP00000532015.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 377,
"cds_start": 38,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861956.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000861981.1",
"protein_id": "ENSP00000532040.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 377,
"cds_start": 38,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 81,
"cdna_end": null,
"cdna_length": 1243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861981.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000925137.1",
"protein_id": "ENSP00000595196.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 377,
"cds_start": 38,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 5716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925137.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000925139.1",
"protein_id": "ENSP00000595198.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 377,
"cds_start": 38,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 84,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925139.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000925146.1",
"protein_id": "ENSP00000595205.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 377,
"cds_start": 38,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 251,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925146.1"
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000947719.1",
"protein_id": "ENSP00000617778.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 377,
"cds_start": 38,
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"cdna_start": 89,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947719.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000925147.1",
"protein_id": "ENSP00000595206.1",
"transcript_support_level": null,
"aa_start": 13,
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"aa_length": 376,
"cds_start": 38,
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"cdna_start": 107,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000925147.1"
},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
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"transcript": "ENST00000925156.1",
"protein_id": "ENSP00000595215.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000925156.1"
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000861978.1",
"protein_id": "ENSP00000532037.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
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"cds_start": 38,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000861978.1"
},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000861963.1",
"protein_id": "ENSP00000532022.1",
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"aa_start": 13,
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"cds_start": 38,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000861963.1"
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000861976.1",
"protein_id": "ENSP00000532035.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 367,
"cds_start": 38,
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"cdna_start": 62,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861976.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000925178.1",
"protein_id": "ENSP00000595237.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "HNRNPA3",
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"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000861962.1",
"protein_id": "ENSP00000532021.1",
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"biotype": "protein_coding",
"feature": "ENST00000861962.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000925149.1",
"protein_id": "ENSP00000595208.1",
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"biotype": "protein_coding",
"feature": "ENST00000925149.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000861979.1",
"protein_id": "ENSP00000532038.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 361,
"cds_start": 38,
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"cds_length": 1086,
"cdna_start": 47,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861979.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala",
"transcript": "ENST00000925181.1",
"protein_id": "ENSP00000595240.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 360,
"cds_start": 38,
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"cdna_start": 67,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
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"biotype": "pseudogene",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"exon_count": 2,
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"feature": "ENST00000654107.2"
},
{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 3,
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"gene_symbol": "ENSG00000229337",
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"biotype": "pseudogene",
"feature": "ENST00000668465.2"
},
{
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"protein_coding": false,
"strand": true,
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],
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"gene_symbol": "ENSG00000229337",
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"cdna_length": 593,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000831025.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 1,
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"gene_symbol": "MIR4444-1",
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"transcript": "ENST00000581696.1",
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"biotype": "miRNA",
"feature": "ENST00000581696.1"
},
{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 1,
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"gene_symbol": "MIR4444-1",
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"biotype": "pseudogene",
"feature": "NR_039646.1"
},
{
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"protein_coding": false,
"strand": true,
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"downstream_gene_variant"
],
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"gene_symbol": "MIR4444-1",
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"hgvs_c": "n.*52A>C",
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"transcript": "unassigned_transcript_511",
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"aa_length": null,
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"cdna_length": 18,
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"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_511"
}
],
"gene_symbol": "HNRNPA3",
"gene_hgnc_id": 24941,
"dbsnp": "rs1688739725",
"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": 0.22316434979438782,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.242,
"revel_prediction": "Benign",
"alphamissense_score": 0.1678,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.161,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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_194247.4",
"gene_symbol": "HNRNPA3",
"hgnc_id": 24941,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Asp13Ala"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000831027.1",
"gene_symbol": "ENSG00000229337",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.143+221T>G",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_039646.1",
"gene_symbol": "MIR4444-1",
"hgnc_id": 41710,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*38A>C",
"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
}