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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: 8-119582495-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=119582495&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 119582495,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006209.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1651C>G",
"hgvs_p": "p.Pro551Ala",
"transcript": "NM_001040092.3",
"protein_id": "NP_001035181.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 863,
"cds_start": 1651,
"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": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1651C>G",
"hgvs_p": "p.Pro551Ala",
"transcript": "ENST00000075322.11",
"protein_id": "ENSP00000075322.6",
"transcript_support_level": 1,
"aa_start": 551,
"aa_end": null,
"aa_length": 863,
"cds_start": 1651,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1807C>G",
"hgvs_p": "p.Pro603Ala",
"transcript": "ENST00000259486.10",
"protein_id": "ENSP00000259486.6",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 915,
"cds_start": 1807,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1651C>G",
"hgvs_p": "p.Pro551Ala",
"transcript": "ENST00000522826.5",
"protein_id": "ENSP00000428291.1",
"transcript_support_level": 1,
"aa_start": 551,
"aa_end": null,
"aa_length": 888,
"cds_start": 1651,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1807C>G",
"hgvs_p": "p.Pro603Ala",
"transcript": "ENST00000874341.1",
"protein_id": "ENSP00000544400.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 940,
"cds_start": 1807,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1807C>G",
"hgvs_p": "p.Pro603Ala",
"transcript": "ENST00000874338.1",
"protein_id": "ENSP00000544397.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 936,
"cds_start": 1807,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1807C>G",
"hgvs_p": "p.Pro603Ala",
"transcript": "NM_006209.5",
"protein_id": "NP_006200.3",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 915,
"cds_start": 1807,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1753C>G",
"hgvs_p": "p.Pro585Ala",
"transcript": "ENST00000874342.1",
"protein_id": "ENSP00000544401.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 897,
"cds_start": 1753,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1651C>G",
"hgvs_p": "p.Pro551Ala",
"transcript": "NM_001130863.3",
"protein_id": "NP_001124335.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 888,
"cds_start": 1651,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1639C>G",
"hgvs_p": "p.Pro547Ala",
"transcript": "NM_001330600.2",
"protein_id": "NP_001317529.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 884,
"cds_start": 1639,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1639C>G",
"hgvs_p": "p.Pro547Ala",
"transcript": "ENST00000427067.6",
"protein_id": "ENSP00000403315.2",
"transcript_support_level": 5,
"aa_start": 547,
"aa_end": null,
"aa_length": 884,
"cds_start": 1639,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1651C>G",
"hgvs_p": "p.Pro551Ala",
"transcript": "ENST00000874336.1",
"protein_id": "ENSP00000544395.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 884,
"cds_start": 1651,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1645C>G",
"hgvs_p": "p.Pro549Ala",
"transcript": "ENST00000874337.1",
"protein_id": "ENSP00000544396.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 861,
"cds_start": 1645,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1597C>G",
"hgvs_p": "p.Pro533Ala",
"transcript": "ENST00000874339.1",
"protein_id": "ENSP00000544398.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 845,
"cds_start": 1597,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Pro499Ala",
"transcript": "ENST00000874340.1",
"protein_id": "ENSP00000544399.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 832,
"cds_start": 1495,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Pro499Ala",
"transcript": "ENST00000962640.1",
"protein_id": "ENSP00000632699.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 811,
"cds_start": 1495,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1642C>G",
"hgvs_p": "p.Pro548Ala",
"transcript": "ENST00000962639.1",
"protein_id": "ENSP00000632698.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 743,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962639.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.568C>G",
"hgvs_p": "p.Pro190Ala",
"transcript": "ENST00000522167.5",
"protein_id": "ENSP00000429476.1",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 498,
"cds_start": 568,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1807C>G",
"hgvs_p": "p.Pro603Ala",
"transcript": "XM_006716584.2",
"protein_id": "XP_006716647.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 940,
"cds_start": 1807,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1807C>G",
"hgvs_p": "p.Pro603Ala",
"transcript": "XM_006716585.2",
"protein_id": "XP_006716648.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 936,
"cds_start": 1807,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1795C>G",
"hgvs_p": "p.Pro599Ala",
"transcript": "XM_024447181.2",
"protein_id": "XP_024302949.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 936,
"cds_start": 1795,
"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": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1807C>G",
"hgvs_p": "p.Pro603Ala",
"transcript": "XM_006716587.2",
"protein_id": "XP_006716650.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 911,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2736,
"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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"protein_coding": true,
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],
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"gene_symbol": "ENPP2",
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"protein_id": "XP_016869061.1",
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"aa_start": 551,
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"mane_select": null,
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},
{
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"protein_coding": true,
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"consequences": [
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],
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"exon_count": 26,
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"gene_symbol": "ENPP2",
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"hgvs_c": "c.1639C>G",
"hgvs_p": "p.Pro547Ala",
"transcript": "XM_017013573.2",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 25,
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"gene_symbol": "ENPP2",
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"hgvs_p": "p.Pro547Ala",
"transcript": "XM_017013574.2",
"protein_id": "XP_016869063.1",
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"biotype": "protein_coding",
"feature": "XM_017013574.2"
},
{
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"protein_coding": true,
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"consequences": [
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],
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"gene_symbol": "ENPP2",
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"feature": "XM_017013575.2"
},
{
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],
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"gene_symbol": "ENPP2",
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"transcript": "XM_024447182.2",
"protein_id": "XP_024302950.1",
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"biotype": "protein_coding",
"feature": "XM_024447182.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "n.625C>G",
"hgvs_p": null,
"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"
}
],
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"dbsnp": "rs753500207",
"frequency_reference_population": 6.841246e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84125e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.648247480392456,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.454,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3377,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.602,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006209.5",
"gene_symbol": "ENPP2",
"hgnc_id": 3357,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1807C>G",
"hgvs_p": "p.Pro603Ala"
}
],
"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
}