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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: 3-122540492-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=122540492&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 122540492,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_031458.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1745G>T",
"hgvs_p": "p.Arg582Leu",
"transcript": "NM_001146105.2",
"protein_id": "NP_001139577.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 819,
"cds_start": 1745,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682323.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146105.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1745G>T",
"hgvs_p": "p.Arg582Leu",
"transcript": "ENST00000682323.1",
"protein_id": "ENSP00000507390.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 819,
"cds_start": 1745,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001146105.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682323.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1850G>T",
"hgvs_p": "p.Arg617Leu",
"transcript": "ENST00000360356.6",
"protein_id": "ENSP00000353512.2",
"transcript_support_level": 1,
"aa_start": 617,
"aa_end": null,
"aa_length": 854,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360356.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1745G>T",
"hgvs_p": "p.Arg582Leu",
"transcript": "ENST00000477522.6",
"protein_id": "ENSP00000419506.1",
"transcript_support_level": 1,
"aa_start": 582,
"aa_end": null,
"aa_length": 819,
"cds_start": 1745,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477522.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1745G>T",
"hgvs_p": "p.Arg582Leu",
"transcript": "ENST00000462315.5",
"protein_id": "ENSP00000418894.1",
"transcript_support_level": 1,
"aa_start": 582,
"aa_end": null,
"aa_length": 710,
"cds_start": 1745,
"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": "ENST00000462315.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.485G>T",
"hgvs_p": "p.Arg162Leu",
"transcript": "ENST00000492382.5",
"protein_id": "ENSP00000417664.1",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 399,
"cds_start": 485,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492382.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1859G>T",
"hgvs_p": "p.Arg620Leu",
"transcript": "ENST00000945479.1",
"protein_id": "ENSP00000615538.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 857,
"cds_start": 1859,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945479.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1850G>T",
"hgvs_p": "p.Arg617Leu",
"transcript": "NM_001146102.2",
"protein_id": "NP_001139574.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 854,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146102.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1850G>T",
"hgvs_p": "p.Arg617Leu",
"transcript": "NM_001387871.1",
"protein_id": "NP_001374800.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 854,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387871.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1850G>T",
"hgvs_p": "p.Arg617Leu",
"transcript": "NM_001387872.1",
"protein_id": "NP_001374801.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 854,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387872.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1850G>T",
"hgvs_p": "p.Arg617Leu",
"transcript": "NM_031458.3",
"protein_id": "NP_113646.2",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 854,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031458.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1850G>T",
"hgvs_p": "p.Arg617Leu",
"transcript": "ENST00000893759.1",
"protein_id": "ENSP00000563818.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 854,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893759.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1850G>T",
"hgvs_p": "p.Arg617Leu",
"transcript": "ENST00000893764.1",
"protein_id": "ENSP00000563823.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 854,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893764.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1850G>T",
"hgvs_p": "p.Arg617Leu",
"transcript": "ENST00000893768.1",
"protein_id": "ENSP00000563827.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 854,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893768.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1850G>T",
"hgvs_p": "p.Arg617Leu",
"transcript": "ENST00000945485.1",
"protein_id": "ENSP00000615544.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 854,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945485.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1850G>T",
"hgvs_p": "p.Arg617Leu",
"transcript": "ENST00000945484.1",
"protein_id": "ENSP00000615543.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 851,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945484.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1793G>T",
"hgvs_p": "p.Arg598Leu",
"transcript": "ENST00000945475.1",
"protein_id": "ENSP00000615534.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 835,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945475.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1784G>T",
"hgvs_p": "p.Arg595Leu",
"transcript": "NM_001387873.1",
"protein_id": "NP_001374802.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 832,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387873.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1784G>T",
"hgvs_p": "p.Arg595Leu",
"transcript": "NM_001387874.1",
"protein_id": "NP_001374803.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 832,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387874.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1784G>T",
"hgvs_p": "p.Arg595Leu",
"transcript": "ENST00000893763.1",
"protein_id": "ENSP00000563822.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 832,
"cds_start": 1784,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893763.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1784G>T",
"hgvs_p": "p.Arg595Leu",
"transcript": "ENST00000945473.1",
"protein_id": "ENSP00000615532.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 832,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945473.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1754G>T",
"hgvs_p": "p.Arg585Leu",
"transcript": "ENST00000893755.1",
"protein_id": "ENSP00000563814.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 822,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2469,
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"biotype": "pseudogene",
"feature": "NR_170860.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"biotype": "pseudogene",
"feature": "NR_170861.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "PARP9",
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"transcript": "NR_170862.1",
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"biotype": "pseudogene",
"feature": "NR_170862.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 10,
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"gene_symbol": "PARP9",
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"hgvs_c": "n.1890G>T",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170863.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 11,
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"gene_symbol": "PARP9",
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"transcript": "NR_170864.1",
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"biotype": "pseudogene",
"feature": "NR_170864.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 11,
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"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "n.2024G>T",
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"transcript": "NR_170865.1",
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"aa_end": null,
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"biotype": "pseudogene",
"feature": "NR_170865.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LOC105374071",
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"hgvs_c": "n.366+9273C>A",
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"transcript": "XR_001740869.2",
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"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001740869.2"
}
],
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"dbsnp": "rs559272508",
"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": 0.03983476758003235,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.1041,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.198,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_031458.3",
"gene_symbol": "PARP9",
"hgnc_id": 24118,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1850G>T",
"hgvs_p": "p.Arg617Leu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_001740869.2",
"gene_symbol": "LOC105374071",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.366+9273C>A",
"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
}