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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: 7-95406123-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=95406123&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 95406123,
"ref": "G",
"alt": "C",
"effect": "stop_gained",
"transcript": "NM_000305.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.902C>G",
"hgvs_p": "p.Ser301*",
"transcript": "NM_000305.3",
"protein_id": "NP_000296.2",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 354,
"cds_start": 902,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222572.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000305.3"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.902C>G",
"hgvs_p": "p.Ser301*",
"transcript": "ENST00000222572.8",
"protein_id": "ENSP00000222572.3",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 354,
"cds_start": 902,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000305.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222572.8"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Ser322*",
"transcript": "ENST00000633192.1",
"protein_id": "ENSP00000488378.1",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 375,
"cds_start": 965,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000633192.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.902C>G",
"hgvs_p": "p.Ser301*",
"transcript": "ENST00000633531.1",
"protein_id": "ENSP00000488838.1",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 354,
"cds_start": 902,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000633531.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.866C>G",
"hgvs_p": "p.Ser289*",
"transcript": "ENST00000433091.6",
"protein_id": "ENSP00000404622.2",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 342,
"cds_start": 866,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433091.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "n.*767C>G",
"hgvs_p": null,
"transcript": "ENST00000446142.5",
"protein_id": "ENSP00000405211.1",
"transcript_support_level": 1,
"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": "ENST00000446142.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "n.*189C>G",
"hgvs_p": null,
"transcript": "ENST00000455123.5",
"protein_id": "ENSP00000414515.1",
"transcript_support_level": 1,
"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": "ENST00000455123.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "n.*767C>G",
"hgvs_p": null,
"transcript": "ENST00000446142.5",
"protein_id": "ENSP00000405211.1",
"transcript_support_level": 1,
"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": "ENST00000446142.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "n.*189C>G",
"hgvs_p": null,
"transcript": "ENST00000455123.5",
"protein_id": "ENSP00000414515.1",
"transcript_support_level": 1,
"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": "ENST00000455123.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.941C>G",
"hgvs_p": "p.Ser314*",
"transcript": "ENST00000951228.1",
"protein_id": "ENSP00000621287.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 367,
"cds_start": 941,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951228.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.899C>G",
"hgvs_p": "p.Ser300*",
"transcript": "ENST00000857127.1",
"protein_id": "ENSP00000527186.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 353,
"cds_start": 899,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857127.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.893C>G",
"hgvs_p": "p.Ser298*",
"transcript": "ENST00000951226.1",
"protein_id": "ENSP00000621285.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 351,
"cds_start": 893,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951226.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.887C>G",
"hgvs_p": "p.Ser296*",
"transcript": "ENST00000951227.1",
"protein_id": "ENSP00000621286.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 349,
"cds_start": 887,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951227.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.866C>G",
"hgvs_p": "p.Ser289*",
"transcript": "NM_001018161.2",
"protein_id": "NP_001018171.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 342,
"cds_start": 866,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018161.2"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.866C>G",
"hgvs_p": "p.Ser289*",
"transcript": "ENST00000857126.1",
"protein_id": "ENSP00000527185.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 342,
"cds_start": 866,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857126.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.863C>G",
"hgvs_p": "p.Ser288*",
"transcript": "ENST00000857129.1",
"protein_id": "ENSP00000527188.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 341,
"cds_start": 863,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857129.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.749C>G",
"hgvs_p": "p.Ser250*",
"transcript": "ENST00000857132.1",
"protein_id": "ENSP00000527191.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 303,
"cds_start": 749,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857132.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.743C>G",
"hgvs_p": "p.Ser248*",
"transcript": "ENST00000857131.1",
"protein_id": "ENSP00000527190.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 301,
"cds_start": 743,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857131.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.680C>G",
"hgvs_p": "p.Ser227*",
"transcript": "ENST00000857128.1",
"protein_id": "ENSP00000527187.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 280,
"cds_start": 680,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857128.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.698C>G",
"hgvs_p": "p.Ser233*",
"transcript": "XM_005250453.2",
"protein_id": "XP_005250510.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 286,
"cds_start": 698,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250453.2"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.692C>G",
"hgvs_p": "p.Ser231*",
"transcript": "XM_017012357.3",
"protein_id": "XP_016867846.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 284,
"cds_start": 692,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012357.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"hgvs_c": "c.840+62C>G",
"hgvs_p": null,
"transcript": "ENST00000951229.1",
"protein_id": "ENSP00000621288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951229.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"gene_symbol": "PON2",
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"biotype": "protein_coding",
"feature": "ENST00000857130.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"biotype": "nonsense_mediated_decay",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ENSG00000233942",
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"hgvs_c": "n.589+9095G>C",
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"biotype": "pseudogene",
"feature": "ENST00000718462.1"
},
{
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"protein_coding": false,
"strand": true,
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],
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"feature": "ENST00000818771.1"
},
{
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],
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"biotype": "pseudogene",
"feature": "ENST00000818772.1"
},
{
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"intron_variant"
],
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"exon_count": 6,
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"gene_symbol": "ENSG00000233942",
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"hgvs_c": "n.435+9095G>C",
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"transcript": "ENST00000818773.1",
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"biotype": "pseudogene",
"feature": "ENST00000818773.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "LOC107986822",
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"hgvs_c": "n.557+9095G>C",
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"transcript": "XR_007060439.1",
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "XR_007060439.1"
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],
"gene_symbol": "PON2",
"gene_hgnc_id": 9205,
"dbsnp": "rs755418670",
"frequency_reference_population": 0.000016114238,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000164233,
"gnomad_genomes_af": 0.0000131458,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.807,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.2,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_000305.3",
"gene_symbol": "PON2",
"hgnc_id": 9205,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.902C>G",
"hgvs_p": "p.Ser301*"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000718462.1",
"gene_symbol": "ENSG00000233942",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.589+9095G>C",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007060439.1",
"gene_symbol": "LOC107986822",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.557+9095G>C",
"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
}