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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: 2-197487080-CCACCCATTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=197487080&ref=CCACCCATTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 197487080,
"ref": "CCACCCATTG",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_002156.5",
"consequences": [
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "NM_002156.5",
"protein_id": "NP_002147.2",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 2245,
"mane_select": "ENST00000388968.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002156.5"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000388968.8",
"protein_id": "ENSP00000373620.3",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 2245,
"mane_select": "NM_002156.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388968.8"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1727_1735delCAATGGGTG",
"hgvs_p": "p.Ala576_Gly578del",
"transcript": "ENST00000954440.1",
"protein_id": "ENSP00000624499.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 589,
"cds_start": 1727,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1796,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954440.1"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "NM_199440.2",
"protein_id": "NP_955472.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199440.2"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000345042.6",
"protein_id": "ENSP00000340019.2",
"transcript_support_level": 5,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345042.6"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000418022.2",
"protein_id": "ENSP00000412227.2",
"transcript_support_level": 4,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 2045,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418022.2"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000426480.2",
"protein_id": "ENSP00000414446.2",
"transcript_support_level": 4,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426480.2"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000428204.6",
"protein_id": "ENSP00000396460.2",
"transcript_support_level": 4,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428204.6"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000439605.2",
"protein_id": "ENSP00000402478.2",
"transcript_support_level": 4,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439605.2"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000452200.6",
"protein_id": "ENSP00000412717.2",
"transcript_support_level": 5,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452200.6"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000677913.1",
"protein_id": "ENSP00000503139.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677913.1"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000678761.1",
"protein_id": "ENSP00000503894.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678761.1"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000858498.1",
"protein_id": "ENSP00000528557.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 2389,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858498.1"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000858500.1",
"protein_id": "ENSP00000528559.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858500.1"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000858501.1",
"protein_id": "ENSP00000528560.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
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"cds_length": 1722,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 2353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858501.1"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000915119.1",
"protein_id": "ENSP00000585178.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 2282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915119.1"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000915120.1",
"protein_id": "ENSP00000585179.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915120.1"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000954435.1",
"protein_id": "ENSP00000624494.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
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"cdna_start": 1877,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954435.1"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000954437.1",
"protein_id": "ENSP00000624496.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
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"cds_length": 1722,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954437.1"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000954438.1",
"protein_id": "ENSP00000624497.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 2575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954438.1"
},
{
"aa_ref": "AMGG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del",
"transcript": "ENST00000954439.1",
"protein_id": "ENSP00000624498.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 573,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1891,
"cdna_end": null,
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],
"exon_rank": 13,
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"intron_rank": null,
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"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "n.*675_*683delCAATGGGTG",
"hgvs_p": null,
"transcript": "ENST00000677403.1",
"protein_id": "ENSP00000504667.1",
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"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677403.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "n.*848_*856delCAATGGGTG",
"hgvs_p": null,
"transcript": "ENST00000677454.1",
"protein_id": "ENSP00000503295.1",
"transcript_support_level": null,
"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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"cdna_length": 2320,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677454.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "n.*688_*696delCAATGGGTG",
"hgvs_p": null,
"transcript": "ENST00000677792.1",
"protein_id": "ENSP00000504645.1",
"transcript_support_level": null,
"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": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677792.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "n.*989_*997delCAATGGGTG",
"hgvs_p": null,
"transcript": "ENST00000678545.1",
"protein_id": "ENSP00000502920.1",
"transcript_support_level": null,
"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": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678545.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"hgvs_c": "n.*688_*696delCAATGGGTG",
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"transcript": "ENST00000679291.1",
"protein_id": "ENSP00000504417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679291.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORA105B",
"gene_hgnc_id": 51398,
"hgvs_c": "n.-186_-178delCAATGGGTG",
"hgvs_p": null,
"transcript": "NR_132788.1",
"protein_id": null,
"transcript_support_level": null,
"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": 116,
"mane_select": null,
"mane_plus": null,
"biotype": "snoRNA",
"feature": "NR_132788.1"
}
],
"gene_symbol": "HSPD1",
"gene_hgnc_id": 5261,
"dbsnp": "rs1347832996",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.0000101812,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.675,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM4",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002156.5",
"gene_symbol": "HSPD1",
"hgnc_id": 5261,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1679_1687delCAATGGGTG",
"hgvs_p": "p.Ala560_Gly562del"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NR_132788.1",
"gene_symbol": "SNORA105B",
"hgnc_id": 51398,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-186_-178delCAATGGGTG",
"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
}