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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: 3-15016180-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15016180&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 15016180,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003298.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "NM_001291694.2",
"protein_id": "NP_001278623.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 596,
"cds_start": 302,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000425241.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291694.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000425241.6",
"protein_id": "ENSP00000388387.1",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 596,
"cds_start": 302,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001291694.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425241.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Arg120His",
"transcript": "ENST00000323373.10",
"protein_id": "ENSP00000320447.6",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 615,
"cds_start": 359,
"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": "ENST00000323373.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Arg120His",
"transcript": "NM_003298.5",
"protein_id": "NP_003289.2",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 615,
"cds_start": 359,
"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_003298.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Arg120His",
"transcript": "ENST00000859246.1",
"protein_id": "ENSP00000529305.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 615,
"cds_start": 359,
"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": "ENST00000859246.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Arg120His",
"transcript": "ENST00000859250.1",
"protein_id": "ENSP00000529309.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 615,
"cds_start": 359,
"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": "ENST00000859250.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Arg120His",
"transcript": "ENST00000859253.1",
"protein_id": "ENSP00000529312.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 615,
"cds_start": 359,
"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": "ENST00000859253.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Arg120His",
"transcript": "ENST00000911529.1",
"protein_id": "ENSP00000581588.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 615,
"cds_start": 359,
"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": "ENST00000911529.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Arg120His",
"transcript": "ENST00000968198.1",
"protein_id": "ENSP00000638257.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 615,
"cds_start": 359,
"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": "ENST00000968198.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Arg120His",
"transcript": "ENST00000968199.1",
"protein_id": "ENSP00000638258.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 615,
"cds_start": 359,
"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": "ENST00000968199.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000393102.7",
"protein_id": "ENSP00000376814.3",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 596,
"cds_start": 302,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393102.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000859248.1",
"protein_id": "ENSP00000529307.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 596,
"cds_start": 302,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859248.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000859249.1",
"protein_id": "ENSP00000529308.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 596,
"cds_start": 302,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859249.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000859251.1",
"protein_id": "ENSP00000529310.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 596,
"cds_start": 302,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859251.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000859252.1",
"protein_id": "ENSP00000529311.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 596,
"cds_start": 302,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859252.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000968197.1",
"protein_id": "ENSP00000638256.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 596,
"cds_start": 302,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968197.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Arg101His",
"transcript": "ENST00000968201.1",
"protein_id": "ENSP00000638260.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 596,
"cds_start": 302,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968201.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.158G>A",
"hgvs_p": "p.Arg53His",
"transcript": "ENST00000859247.1",
"protein_id": "ENSP00000529306.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 548,
"cds_start": 158,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859247.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Arg34His",
"transcript": "ENST00000968200.1",
"protein_id": "ENSP00000638259.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 529,
"cds_start": 101,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968200.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Arg120His",
"transcript": "ENST00000437120.5",
"protein_id": "ENSP00000401807.1",
"transcript_support_level": 3,
"aa_start": 120,
"aa_end": null,
"aa_length": 204,
"cds_start": 359,
"cds_end": null,
"cds_length": 616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437120.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.458G>A",
"hgvs_p": "p.Arg153His",
"transcript": "XM_011534058.4",
"protein_id": "XP_011532360.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 648,
"cds_start": 458,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534058.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"hgvs_c": "c.458G>A",
"hgvs_p": "p.Arg153His",
"transcript": "XM_011534059.3",
"protein_id": "XP_011532361.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 648,
"cds_start": 458,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534059.3"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "MRPS25",
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"transcript": "ENST00000695376.1",
"protein_id": "ENSP00000511849.1",
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"cds_length": null,
"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695376.1"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "MRPS25",
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"hgvs_c": "n.*3240+1278C>T",
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"transcript": "ENST00000695377.1",
"protein_id": "ENSP00000511850.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695377.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "MRPS25",
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"hgvs_c": "n.*141-438C>T",
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"transcript": "ENST00000695378.1",
"protein_id": "ENSP00000511851.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695378.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "MRPS25",
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"hgvs_c": "n.*2962+1278C>T",
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"transcript": "ENST00000695379.1",
"protein_id": "ENSP00000511852.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695379.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 6,
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"gene_symbol": "MRPS25",
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"hgvs_c": "n.*2963-441C>T",
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"transcript": "ENST00000695380.2",
"protein_id": "ENSP00000511853.1",
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"aa_end": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695380.2"
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],
"gene_symbol": "NR2C2",
"gene_hgnc_id": 7972,
"dbsnp": "rs146514188",
"frequency_reference_population": 0.000032836775,
"hom_count_reference_population": 0,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.0000259957,
"gnomad_genomes_af": 0.0000985144,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5947113037109375,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.606,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0938,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.047,
"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": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003298.5",
"gene_symbol": "NR2C2",
"hgnc_id": 7972,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.359G>A",
"hgvs_p": "p.Arg120His"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000695376.1",
"gene_symbol": "MRPS25",
"hgnc_id": 14511,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "n.*2962+1278C>T",
"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
}