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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: 10-98387250-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=98387250&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 98387250,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032709.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Asp502Gly",
"transcript": "NM_032709.3",
"protein_id": "NP_116098.2",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 581,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370575.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032709.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Asp502Gly",
"transcript": "ENST00000370575.5",
"protein_id": "ENSP00000359607.4",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 581,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032709.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370575.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "n.2391A>G",
"hgvs_p": null,
"transcript": "ENST00000483923.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000483923.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1649A>G",
"hgvs_p": "p.Asp550Gly",
"transcript": "ENST00000906254.1",
"protein_id": "ENSP00000576313.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 629,
"cds_start": 1649,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906254.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1646A>G",
"hgvs_p": "p.Asp549Gly",
"transcript": "ENST00000965723.1",
"protein_id": "ENSP00000635782.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 628,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965723.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1628A>G",
"hgvs_p": "p.Asp543Gly",
"transcript": "ENST00000965722.1",
"protein_id": "ENSP00000635781.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 622,
"cds_start": 1628,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965722.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1619A>G",
"hgvs_p": "p.Asp540Gly",
"transcript": "ENST00000906252.1",
"protein_id": "ENSP00000576311.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 619,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906252.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asp457Gly",
"transcript": "ENST00000906253.1",
"protein_id": "ENSP00000576312.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 536,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906253.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1721A>G",
"hgvs_p": "p.Asp574Gly",
"transcript": "XM_047425881.1",
"protein_id": "XP_047281837.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 653,
"cds_start": 1721,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425881.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1619A>G",
"hgvs_p": "p.Asp540Gly",
"transcript": "XM_047425882.1",
"protein_id": "XP_047281838.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 619,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425882.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1607A>G",
"hgvs_p": "p.Asp536Gly",
"transcript": "XM_011540293.3",
"protein_id": "XP_011538595.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 615,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540293.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1619A>G",
"hgvs_p": "p.Asp540Gly",
"transcript": "XM_047425883.1",
"protein_id": "XP_047281839.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 598,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425883.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1607A>G",
"hgvs_p": "p.Asp536Gly",
"transcript": "XM_047425884.1",
"protein_id": "XP_047281840.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 594,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425884.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1619A>G",
"hgvs_p": "p.Asp540Gly",
"transcript": "XM_047425885.1",
"protein_id": "XP_047281841.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 566,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425885.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1607A>G",
"hgvs_p": "p.Asp536Gly",
"transcript": "XM_047425886.1",
"protein_id": "XP_047281842.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 562,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425886.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Asp502Gly",
"transcript": "XM_017016835.2",
"protein_id": "XP_016872324.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 560,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016835.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1256A>G",
"hgvs_p": "p.Asp419Gly",
"transcript": "XM_047425887.1",
"protein_id": "XP_047281843.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 498,
"cds_start": 1256,
"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": "XM_047425887.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1256A>G",
"hgvs_p": "p.Asp419Gly",
"transcript": "XM_047425888.1",
"protein_id": "XP_047281844.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 498,
"cds_start": 1256,
"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": "XM_047425888.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.Asp381Gly",
"transcript": "XM_017016839.3",
"protein_id": "XP_016872328.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 460,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016839.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.Asp381Gly",
"transcript": "XM_017016840.2",
"protein_id": "XP_016872329.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 460,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016840.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.Asp381Gly",
"transcript": "XM_017016841.2",
"protein_id": "XP_016872330.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 460,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016841.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"hgvs_c": "c.749A>G",
"hgvs_p": "p.Asp250Gly",
"transcript": "XM_047425891.1",
"protein_id": "XP_047281847.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 329,
"cds_start": 749,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
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},
{
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"protein_coding": true,
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],
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},
{
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"protein_coding": true,
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"consequences": [
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],
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"biotype": "pseudogene",
"feature": "ENST00000464808.1"
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{
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"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "PYROXD2",
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"biotype": "pseudogene",
"feature": "XR_007062008.1"
},
{
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"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "PYROXD2",
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"transcript": "XR_007062009.1",
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"biotype": "pseudogene",
"feature": "XR_007062009.1"
}
],
"gene_symbol": "PYROXD2",
"gene_hgnc_id": 23517,
"dbsnp": "rs565590908",
"frequency_reference_population": 0.00005823556,
"hom_count_reference_population": 0,
"allele_count_reference_population": 94,
"gnomad_exomes_af": 0.0000499367,
"gnomad_genomes_af": 0.000137902,
"gnomad_exomes_ac": 73,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6978251338005066,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.422,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8048,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.927,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_032709.3",
"gene_symbol": "PYROXD2",
"hgnc_id": 23517,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Asp502Gly"
}
],
"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
}