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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: 8-119570814-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=119570814&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 119570814,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006209.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1808C>A",
"hgvs_p": "p.Ala603Glu",
"transcript": "NM_001040092.3",
"protein_id": "NP_001035181.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 863,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000075322.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040092.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1808C>A",
"hgvs_p": "p.Ala603Glu",
"transcript": "ENST00000075322.11",
"protein_id": "ENSP00000075322.6",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 863,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040092.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000075322.11"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1964C>A",
"hgvs_p": "p.Ala655Glu",
"transcript": "ENST00000259486.10",
"protein_id": "ENSP00000259486.6",
"transcript_support_level": 1,
"aa_start": 655,
"aa_end": null,
"aa_length": 915,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259486.10"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1883C>A",
"hgvs_p": "p.Ala628Glu",
"transcript": "ENST00000522826.5",
"protein_id": "ENSP00000428291.1",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 888,
"cds_start": 1883,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522826.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2039C>A",
"hgvs_p": "p.Ala680Glu",
"transcript": "ENST00000874341.1",
"protein_id": "ENSP00000544400.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 940,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874341.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2027C>A",
"hgvs_p": "p.Ala676Glu",
"transcript": "ENST00000874338.1",
"protein_id": "ENSP00000544397.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 936,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874338.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1964C>A",
"hgvs_p": "p.Ala655Glu",
"transcript": "NM_006209.5",
"protein_id": "NP_006200.3",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 915,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006209.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1910C>A",
"hgvs_p": "p.Ala637Glu",
"transcript": "ENST00000874342.1",
"protein_id": "ENSP00000544401.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 897,
"cds_start": 1910,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874342.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1883C>A",
"hgvs_p": "p.Ala628Glu",
"transcript": "NM_001130863.3",
"protein_id": "NP_001124335.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 888,
"cds_start": 1883,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130863.3"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1871C>A",
"hgvs_p": "p.Ala624Glu",
"transcript": "NM_001330600.2",
"protein_id": "NP_001317529.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 884,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330600.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1871C>A",
"hgvs_p": "p.Ala624Glu",
"transcript": "ENST00000427067.6",
"protein_id": "ENSP00000403315.2",
"transcript_support_level": 5,
"aa_start": 624,
"aa_end": null,
"aa_length": 884,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427067.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1871C>A",
"hgvs_p": "p.Ala624Glu",
"transcript": "ENST00000874336.1",
"protein_id": "ENSP00000544395.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 884,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874336.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1802C>A",
"hgvs_p": "p.Ala601Glu",
"transcript": "ENST00000874337.1",
"protein_id": "ENSP00000544396.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 861,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874337.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1754C>A",
"hgvs_p": "p.Ala585Glu",
"transcript": "ENST00000874339.1",
"protein_id": "ENSP00000544398.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 845,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874339.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "ENST00000874340.1",
"protein_id": "ENSP00000544399.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 832,
"cds_start": 1715,
"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": "ENST00000874340.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1652C>A",
"hgvs_p": "p.Ala551Glu",
"transcript": "ENST00000962640.1",
"protein_id": "ENSP00000632699.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 811,
"cds_start": 1652,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962640.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.713C>A",
"hgvs_p": "p.Ala238Glu",
"transcript": "ENST00000522167.5",
"protein_id": "ENSP00000429476.1",
"transcript_support_level": 2,
"aa_start": 238,
"aa_end": null,
"aa_length": 498,
"cds_start": 713,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522167.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2039C>A",
"hgvs_p": "p.Ala680Glu",
"transcript": "XM_006716584.2",
"protein_id": "XP_006716647.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 940,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716584.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2027C>A",
"hgvs_p": "p.Ala676Glu",
"transcript": "XM_006716585.2",
"protein_id": "XP_006716648.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 936,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716585.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2027C>A",
"hgvs_p": "p.Ala676Glu",
"transcript": "XM_024447181.2",
"protein_id": "XP_024302949.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 936,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447181.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1952C>A",
"hgvs_p": "p.Ala651Glu",
"transcript": "XM_006716587.2",
"protein_id": "XP_006716650.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 911,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716587.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1871C>A",
"hgvs_p": "p.Ala624Glu",
"transcript": "XM_017013572.2",
"protein_id": "XP_016869061.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 884,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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],
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{
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"gene_symbol": "ENPP2",
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},
{
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],
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"gene_symbol": "ENPP2",
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"transcript": "XM_017013575.2",
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"feature": "XM_017013575.2"
},
{
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"protein_coding": true,
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],
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"gene_symbol": "ENPP2",
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"transcript": "XM_024447182.2",
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"feature": "XM_024447182.2"
},
{
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"intron_variant"
],
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"gene_symbol": "ENPP2",
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"transcript": "ENST00000962639.1",
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"biotype": "protein_coding",
"feature": "ENST00000962639.1"
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{
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"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "ENPP2",
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"biotype": "retained_intron",
"feature": "ENST00000523861.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
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"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "n.770C>A",
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"transcript": "NR_045555.2",
"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": "NR_045555.2"
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],
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"dbsnp": "rs374077888",
"frequency_reference_population": 0.0000012704172,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 7.03115e-7,
"gnomad_genomes_af": 0.00000657704,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.760648787021637,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.412,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8908,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.977,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006209.5",
"gene_symbol": "ENPP2",
"hgnc_id": 3357,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1964C>A",
"hgvs_p": "p.Ala655Glu"
}
],
"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
}