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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: 7-95364022-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=95364022&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 95364022,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000940.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"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": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.536C>A",
"hgvs_p": "p.Ala179Asp",
"transcript": "NM_000940.3",
"protein_id": "NP_000931.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 354,
"cds_start": 536,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265627.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000940.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"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": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.536C>A",
"hgvs_p": "p.Ala179Asp",
"transcript": "ENST00000265627.10",
"protein_id": "ENSP00000265627.5",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 354,
"cds_start": 536,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000940.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265627.10"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.719C>A",
"hgvs_p": "p.Ala240Asp",
"transcript": "ENST00000902762.1",
"protein_id": "ENSP00000572821.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 415,
"cds_start": 719,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902762.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.689C>A",
"hgvs_p": "p.Ala230Asp",
"transcript": "ENST00000902763.1",
"protein_id": "ENSP00000572822.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 405,
"cds_start": 689,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902763.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.680C>A",
"hgvs_p": "p.Ala227Asp",
"transcript": "ENST00000902748.1",
"protein_id": "ENSP00000572807.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 402,
"cds_start": 680,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902748.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.674C>A",
"hgvs_p": "p.Ala225Asp",
"transcript": "ENST00000902749.1",
"protein_id": "ENSP00000572808.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 400,
"cds_start": 674,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902749.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.680C>A",
"hgvs_p": "p.Ala227Asp",
"transcript": "ENST00000902752.1",
"protein_id": "ENSP00000572811.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 399,
"cds_start": 680,
"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": "ENST00000902752.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.575C>A",
"hgvs_p": "p.Ala192Asp",
"transcript": "ENST00000902760.1",
"protein_id": "ENSP00000572819.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 367,
"cds_start": 575,
"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": "ENST00000902760.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.680C>A",
"hgvs_p": "p.Ala227Asp",
"transcript": "ENST00000902764.1",
"protein_id": "ENSP00000572823.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 359,
"cds_start": 680,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902764.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.545C>A",
"hgvs_p": "p.Ala182Asp",
"transcript": "ENST00000902757.1",
"protein_id": "ENSP00000572816.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 357,
"cds_start": 545,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902757.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.536C>A",
"hgvs_p": "p.Ala179Asp",
"transcript": "ENST00000902756.1",
"protein_id": "ENSP00000572815.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 351,
"cds_start": 536,
"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": "ENST00000902756.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.518C>A",
"hgvs_p": "p.Ala173Asp",
"transcript": "ENST00000902753.1",
"protein_id": "ENSP00000572812.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 348,
"cds_start": 518,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902753.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Ala155Asp",
"transcript": "ENST00000902759.1",
"protein_id": "ENSP00000572818.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 330,
"cds_start": 464,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902759.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.536C>A",
"hgvs_p": "p.Ala179Asp",
"transcript": "ENST00000902750.1",
"protein_id": "ENSP00000572809.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 311,
"cds_start": 536,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902750.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.380C>A",
"hgvs_p": "p.Ala127Asp",
"transcript": "ENST00000902761.1",
"protein_id": "ENSP00000572820.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 302,
"cds_start": 380,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902761.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.314C>A",
"hgvs_p": "p.Ala105Asp",
"transcript": "ENST00000902754.1",
"protein_id": "ENSP00000572813.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 280,
"cds_start": 314,
"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": "ENST00000902754.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.536C>A",
"hgvs_p": "p.Ala179Asp",
"transcript": "ENST00000451904.5",
"protein_id": "ENSP00000403850.1",
"transcript_support_level": 3,
"aa_start": 179,
"aa_end": null,
"aa_length": 270,
"cds_start": 536,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451904.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.536C>A",
"hgvs_p": "p.Ala179Asp",
"transcript": "ENST00000427422.5",
"protein_id": "ENSP00000413276.1",
"transcript_support_level": 3,
"aa_start": 179,
"aa_end": null,
"aa_length": 245,
"cds_start": 536,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427422.5"
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.639-88C>A",
"hgvs_p": null,
"transcript": "ENST00000902758.1",
"protein_id": "ENSP00000572817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902758.1"
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.633-88C>A",
"hgvs_p": null,
"transcript": "ENST00000902755.1",
"protein_id": "ENSP00000572814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": null,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902755.1"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "c.495-88C>A",
"hgvs_p": null,
"transcript": "ENST00000902751.1",
"protein_id": "ENSP00000572810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": null,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902751.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "n.*290C>A",
"hgvs_p": null,
"transcript": "ENST00000418617.5",
"protein_id": "ENSP00000393174.1",
"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": "ENST00000418617.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"exon_rank": 6,
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"gene_symbol": "PON3",
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000442770.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"gene_symbol": "PON3",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000456855.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "PON3",
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"hgvs_c": "n.698C>A",
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"transcript": "ENST00000482624.5",
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"transcript_support_level": 2,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482624.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
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"intron_rank_end": null,
"gene_symbol": "PON3",
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"hgvs_c": "n.1892C>A",
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"transcript": "ENST00000492800.1",
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"biotype": "retained_intron",
"feature": "ENST00000492800.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "PON3",
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"transcript": "ENST00000418617.5",
"protein_id": "ENSP00000393174.1",
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"feature": "ENST00000418617.5"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 9,
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"gene_symbol": "PON3",
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"hgvs_c": "n.*417C>A",
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"transcript": "ENST00000442770.5",
"protein_id": "ENSP00000390253.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000442770.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"hgvs_c": "n.*294C>A",
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"transcript": "ENST00000456855.5",
"protein_id": "ENSP00000391072.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"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": "ENST00000456855.5"
}
],
"gene_symbol": "PON3",
"gene_hgnc_id": 9206,
"dbsnp": "rs17883013",
"frequency_reference_population": 0.00268618,
"hom_count_reference_population": 110,
"allele_count_reference_population": 4335,
"gnomad_exomes_af": 0.00145867,
"gnomad_genomes_af": 0.0144732,
"gnomad_exomes_ac": 2132,
"gnomad_genomes_ac": 2203,
"gnomad_exomes_homalt": 56,
"gnomad_genomes_homalt": 54,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012339502573013306,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.325,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9675,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.491,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000940.3",
"gene_symbol": "PON3",
"hgnc_id": 9206,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.536C>A",
"hgvs_p": "p.Ala179Asp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}