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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: 8-38249709-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38249709&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38249709,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_015214.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "NM_015214.3",
"protein_id": "NP_056029.2",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397166.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015214.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "ENST00000397166.7",
"protein_id": "ENSP00000380352.2",
"transcript_support_level": 2,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015214.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397166.7"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "ENST00000853787.1",
"protein_id": "ENSP00000523846.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 719,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853787.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "NM_001164232.2",
"protein_id": "NP_001157704.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164232.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "NM_001362911.2",
"protein_id": "NP_001349840.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362911.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "NM_001362912.2",
"protein_id": "NP_001349841.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362912.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "NM_001362914.2",
"protein_id": "NP_001349843.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362914.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "ENST00000520272.6",
"protein_id": "ENSP00000429932.2",
"transcript_support_level": 2,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520272.6"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "ENST00000853780.1",
"protein_id": "ENSP00000523839.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853780.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "ENST00000853781.1",
"protein_id": "ENSP00000523840.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853781.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "ENST00000853786.1",
"protein_id": "ENSP00000523845.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853786.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "ENST00000853790.1",
"protein_id": "ENSP00000523849.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853790.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "ENST00000935428.1",
"protein_id": "ENSP00000605487.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935428.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "ENST00000970138.1",
"protein_id": "ENSP00000640197.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970138.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "ENST00000970139.1",
"protein_id": "ENSP00000640198.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970139.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "ENST00000970140.1",
"protein_id": "ENSP00000640199.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970140.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "ENST00000970142.1",
"protein_id": "ENSP00000640201.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970142.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "ENST00000970143.1",
"protein_id": "ENSP00000640202.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970143.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "ENST00000970145.1",
"protein_id": "ENSP00000640204.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970145.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp",
"transcript": "ENST00000970146.1",
"protein_id": "ENSP00000640205.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 711,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970146.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1247C>A",
"hgvs_p": "p.Ala416Asp",
"transcript": "ENST00000970144.1",
"protein_id": "ENSP00000640203.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 710,
"cds_start": 1247,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970144.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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"exon_count": 19,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 20,
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"transcript": "XR_007060724.1",
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"biotype": "pseudogene",
"feature": "XR_007060724.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
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"exon_count": 19,
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"gene_symbol": "DDHD2",
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"transcript": "XR_007060725.1",
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"cds_start": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060725.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
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"exon_count": 19,
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"gene_symbol": "DDHD2",
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"hgvs_c": "n.1443C>A",
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"transcript": "XR_007060726.1",
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"biotype": "pseudogene",
"feature": "XR_007060726.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "DDHD2",
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"hgvs_c": "n.-70C>A",
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"transcript": "ENST00000520176.5",
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"transcript_support_level": 2,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000520176.5"
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],
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"dbsnp": "rs376393703",
"frequency_reference_population": 0.0000068592667,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.0000068885,
"gnomad_genomes_af": 0.00000657999,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6740329265594482,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.33799999952316284,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.233,
"revel_prediction": "Benign",
"alphamissense_score": 0.2626,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.253,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.251506377446458,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015214.3",
"gene_symbol": "DDHD2",
"hgnc_id": 29106,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Asp"
}
],
"clinvar_disease": "Hereditary spastic paraplegia 54",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hereditary spastic paraplegia 54",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}