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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: 17-47946328-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47946328&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 47946328,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_018129.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "c.552G>A",
"hgvs_p": "p.Leu184Leu",
"transcript": "NM_018129.4",
"protein_id": "NP_060599.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 261,
"cds_start": 552,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000642017.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018129.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "c.552G>A",
"hgvs_p": "p.Leu184Leu",
"transcript": "ENST00000642017.2",
"protein_id": "ENSP00000493302.2",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 261,
"cds_start": 552,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018129.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642017.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "c.423G>A",
"hgvs_p": "p.Leu141Leu",
"transcript": "ENST00000225573.5",
"protein_id": "ENSP00000225573.5",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 218,
"cds_start": 423,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225573.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Leu166Leu",
"transcript": "ENST00000434554.7",
"protein_id": "ENSP00000399960.3",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 243,
"cds_start": 498,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434554.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "c.483G>A",
"hgvs_p": "p.Leu161Leu",
"transcript": "ENST00000584061.6",
"protein_id": "ENSP00000463972.2",
"transcript_support_level": 4,
"aa_start": 161,
"aa_end": null,
"aa_length": 238,
"cds_start": 483,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584061.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "c.423G>A",
"hgvs_p": "p.Leu141Leu",
"transcript": "NM_001436305.1",
"protein_id": "NP_001423234.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 218,
"cds_start": 423,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001436305.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "c.327G>A",
"hgvs_p": "p.Leu109Leu",
"transcript": "ENST00000958513.1",
"protein_id": "ENSP00000628572.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 186,
"cds_start": 327,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958513.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Leu104Leu",
"transcript": "ENST00000583599.6",
"protein_id": "ENSP00000463919.2",
"transcript_support_level": 4,
"aa_start": 104,
"aa_end": null,
"aa_length": 164,
"cds_start": 312,
"cds_end": null,
"cds_length": 497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583599.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "c.282G>A",
"hgvs_p": "p.Leu94Leu",
"transcript": "ENST00000641511.1",
"protein_id": "ENSP00000493348.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 149,
"cds_start": 282,
"cds_end": null,
"cds_length": 451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641511.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "c.547-7G>A",
"hgvs_p": null,
"transcript": "ENST00000958514.1",
"protein_id": "ENSP00000628573.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": null,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958514.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "n.*217G>A",
"hgvs_p": null,
"transcript": "ENST00000582171.6",
"protein_id": "ENSP00000463994.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000582171.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000263798",
"gene_hgnc_id": null,
"hgvs_c": "n.81G>A",
"hgvs_p": null,
"transcript": "ENST00000582262.1",
"protein_id": null,
"transcript_support_level": 4,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000582262.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "n.221G>A",
"hgvs_p": null,
"transcript": "ENST00000584806.2",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000584806.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "n.*34G>A",
"hgvs_p": null,
"transcript": "ENST00000585320.5",
"protein_id": "ENSP00000462345.1",
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000585320.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "n.332G>A",
"hgvs_p": null,
"transcript": "ENST00000641285.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000641285.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "n.2051G>A",
"hgvs_p": null,
"transcript": "ENST00000641305.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000641305.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "n.*571G>A",
"hgvs_p": null,
"transcript": "ENST00000641323.1",
"protein_id": "ENSP00000492965.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000641323.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "n.552G>A",
"hgvs_p": null,
"transcript": "ENST00000641427.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000641427.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "n.*163G>A",
"hgvs_p": null,
"transcript": "ENST00000641703.1",
"protein_id": "ENSP00000493219.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000641703.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "n.*374G>A",
"hgvs_p": null,
"transcript": "ENST00000641709.1",
"protein_id": "ENSP00000493349.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000641709.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "n.*1060G>A",
"hgvs_p": null,
"transcript": "ENST00000641856.1",
"protein_id": "ENSP00000493224.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000641856.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "n.*217G>A",
"hgvs_p": null,
"transcript": "ENST00000582171.6",
"protein_id": "ENSP00000463994.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000582171.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
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"exon_count": 4,
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"hgvs_c": "n.*34G>A",
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"transcript": "ENST00000585320.5",
"protein_id": "ENSP00000462345.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"feature": "ENST00000585320.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"3_prime_UTR_variant"
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"exon_rank": 6,
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"exon_count": 7,
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"gene_symbol": "PNPO",
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"hgvs_c": "n.*571G>A",
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"transcript": "ENST00000641323.1",
"protein_id": "ENSP00000492965.1",
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000641323.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "n.*163G>A",
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"transcript": "ENST00000641703.1",
"protein_id": "ENSP00000493219.1",
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"feature": "ENST00000641703.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
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"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 7,
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"gene_symbol": "PNPO",
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"hgvs_c": "n.*374G>A",
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"transcript": "ENST00000641709.1",
"protein_id": "ENSP00000493349.1",
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"cdna_start": null,
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"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000641709.1"
},
{
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"3_prime_UTR_variant"
],
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"exon_count": 5,
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"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"hgvs_c": "n.*1060G>A",
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"transcript": "ENST00000641856.1",
"protein_id": "ENSP00000493224.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000641856.1"
}
],
"gene_symbol": "PNPO",
"gene_hgnc_id": 30260,
"dbsnp": "rs4378657",
"frequency_reference_population": 0.073798165,
"hom_count_reference_population": 4933,
"allele_count_reference_population": 118836,
"gnomad_exomes_af": 0.0748673,
"gnomad_genomes_af": 0.0635554,
"gnomad_exomes_ac": 109163,
"gnomad_genomes_ac": 9673,
"gnomad_exomes_homalt": 4567,
"gnomad_genomes_homalt": 366,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.967,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_018129.4",
"gene_symbol": "PNPO",
"hgnc_id": 30260,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.552G>A",
"hgvs_p": "p.Leu184Leu"
},
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000582262.1",
"gene_symbol": "ENSG00000263798",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.81G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,Pyridoxal phosphate-responsive seizures,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|Pyridoxal phosphate-responsive seizures|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}