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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: 2-197487066-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=197487066&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 197487066,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002156.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "NM_002156.5",
"protein_id": "NP_002147.2",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000388968.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002156.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000388968.8",
"protein_id": "ENSP00000373620.3",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002156.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388968.8"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1750A>G",
"hgvs_p": "p.Met584Val",
"transcript": "ENST00000954440.1",
"protein_id": "ENSP00000624499.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 589,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954440.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "NM_199440.2",
"protein_id": "NP_955472.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199440.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000345042.6",
"protein_id": "ENSP00000340019.2",
"transcript_support_level": 5,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345042.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000418022.2",
"protein_id": "ENSP00000412227.2",
"transcript_support_level": 4,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418022.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000426480.2",
"protein_id": "ENSP00000414446.2",
"transcript_support_level": 4,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426480.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000428204.6",
"protein_id": "ENSP00000396460.2",
"transcript_support_level": 4,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428204.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000439605.2",
"protein_id": "ENSP00000402478.2",
"transcript_support_level": 4,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439605.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000452200.6",
"protein_id": "ENSP00000412717.2",
"transcript_support_level": 5,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452200.6"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000677913.1",
"protein_id": "ENSP00000503139.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677913.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000678761.1",
"protein_id": "ENSP00000503894.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678761.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000858498.1",
"protein_id": "ENSP00000528557.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858498.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000858500.1",
"protein_id": "ENSP00000528559.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858500.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000858501.1",
"protein_id": "ENSP00000528560.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858501.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000915119.1",
"protein_id": "ENSP00000585178.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915119.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000915120.1",
"protein_id": "ENSP00000585179.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915120.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000954435.1",
"protein_id": "ENSP00000624494.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954435.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000954437.1",
"protein_id": "ENSP00000624496.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954437.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000954438.1",
"protein_id": "ENSP00000624497.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954438.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000954439.1",
"protein_id": "ENSP00000624498.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954439.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val",
"transcript": "ENST00000954441.1",
"protein_id": "ENSP00000624500.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 573,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
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],
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"exon_count": 11,
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"transcript": "ENST00000677792.1",
"protein_id": "ENSP00000504645.1",
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},
{
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"protein_coding": false,
"strand": false,
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],
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"gene_symbol": "HSPD1",
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"transcript": "ENST00000678545.1",
"protein_id": "ENSP00000502920.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_length": null,
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"feature": "ENST00000678545.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 11,
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"gene_symbol": "HSPD1",
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"hgvs_c": "n.*711A>G",
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"transcript": "ENST00000679291.1",
"protein_id": "ENSP00000504417.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679291.1"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORA105B",
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"hgvs_c": "n.-163A>G",
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"transcript": "NR_132788.1",
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"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "snoRNA",
"feature": "NR_132788.1"
}
],
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"dbsnp": "rs757331948",
"frequency_reference_population": 0.000004639006,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000368494,
"gnomad_genomes_af": 0.0000131518,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5834328532218933,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.588,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3181,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.446,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_002156.5",
"gene_symbol": "HSPD1",
"hgnc_id": 5261,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Met568Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_132788.1",
"gene_symbol": "SNORA105B",
"hgnc_id": 51398,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-163A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Spastic paraplegia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Spastic paraplegia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}