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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: 17-81906493-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81906493&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81906493,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000538936.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Tyr244His",
"transcript": "NM_002861.5",
"protein_id": "NP_002852.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 389,
"cds_start": 730,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 5089,
"mane_select": "ENST00000538936.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Tyr244His",
"transcript": "ENST00000538936.7",
"protein_id": "ENSP00000439245.3",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 389,
"cds_start": 730,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 5089,
"mane_select": "NM_002861.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"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": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"transcript": "ENST00000538721.6",
"protein_id": "ENSP00000442050.2",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 407,
"cds_start": 784,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"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": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"transcript": "NM_001184917.3",
"protein_id": "NP_001171846.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 407,
"cds_start": 784,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 5143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Tyr244His",
"transcript": "NM_001330518.2",
"protein_id": "NP_001317447.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 367,
"cds_start": 730,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Tyr244His",
"transcript": "ENST00000571105.5",
"protein_id": "ENSP00000459044.1",
"transcript_support_level": 5,
"aa_start": 244,
"aa_end": null,
"aa_length": 367,
"cds_start": 730,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 1628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Tyr212His",
"transcript": "NM_001282204.2",
"protein_id": "NP_001269133.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 357,
"cds_start": 634,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 5231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.634T>C",
"hgvs_p": "p.Tyr212His",
"transcript": "ENST00000570391.5",
"protein_id": "ENSP00000461190.1",
"transcript_support_level": 2,
"aa_start": 212,
"aa_end": null,
"aa_length": 357,
"cds_start": 634,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"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": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.607T>C",
"hgvs_p": "p.Tyr203His",
"transcript": "NM_001256434.3",
"protein_id": "NP_001243363.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 348,
"cds_start": 607,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 5141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.568T>C",
"hgvs_p": "p.Tyr190His",
"transcript": "NM_001256433.3",
"protein_id": "NP_001243362.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 335,
"cds_start": 568,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 4927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.568T>C",
"hgvs_p": "p.Tyr190His",
"transcript": "ENST00000576343.5",
"protein_id": "ENSP00000458931.1",
"transcript_support_level": 5,
"aa_start": 190,
"aa_end": null,
"aa_length": 313,
"cds_start": 568,
"cds_end": null,
"cds_length": 943,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.496T>C",
"hgvs_p": "p.Tyr166His",
"transcript": "NM_001256435.3",
"protein_id": "NP_001243364.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 311,
"cds_start": 496,
"cds_end": null,
"cds_length": 936,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 5373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.496T>C",
"hgvs_p": "p.Tyr166His",
"transcript": "NM_001282203.2",
"protein_id": "NP_001269132.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 311,
"cds_start": 496,
"cds_end": null,
"cds_length": 936,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 5515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.496T>C",
"hgvs_p": "p.Tyr166His",
"transcript": "ENST00000331285.7",
"protein_id": "ENSP00000331719.3",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 311,
"cds_start": 496,
"cds_end": null,
"cds_length": 936,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.496T>C",
"hgvs_p": "p.Tyr166His",
"transcript": "ENST00000570388.5",
"protein_id": "ENSP00000458330.1",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 311,
"cds_start": 496,
"cds_end": null,
"cds_length": 936,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"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": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.685T>C",
"hgvs_p": "p.Tyr229His",
"transcript": "ENST00000573636.6",
"protein_id": "ENSP00000459836.2",
"transcript_support_level": 5,
"aa_start": 229,
"aa_end": null,
"aa_length": 285,
"cds_start": 685,
"cds_end": null,
"cds_length": 858,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.259T>C",
"hgvs_p": "p.Tyr87His",
"transcript": "ENST00000572995.5",
"protein_id": "ENSP00000460767.1",
"transcript_support_level": 3,
"aa_start": 87,
"aa_end": null,
"aa_length": 206,
"cds_start": 259,
"cds_end": null,
"cds_length": 621,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.784T>C",
"hgvs_p": "p.Tyr262His",
"transcript": "XM_006722287.5",
"protein_id": "XP_006722350.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 385,
"cds_start": 784,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"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": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.688T>C",
"hgvs_p": "p.Tyr230His",
"transcript": "XM_005256386.5",
"protein_id": "XP_005256443.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 375,
"cds_start": 688,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 5285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"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": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "c.688T>C",
"hgvs_p": "p.Tyr230His",
"transcript": "XM_005256387.4",
"protein_id": "XP_005256444.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 375,
"cds_start": 688,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 5281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "n.937T>C",
"hgvs_p": null,
"transcript": "ENST00000571581.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "n.*764T>C",
"hgvs_p": null,
"transcript": "ENST00000573401.6",
"protein_id": "ENSP00000458472.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCYT2",
"gene_hgnc_id": 8756,
"hgvs_c": "n.124T>C",
"hgvs_p": null,
"transcript": "ENST00000574155.1",
"protein_id": null,
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"upstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "PCYT2",
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"hgvs_c": "n.-245T>C",
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}
],
"gene_symbol": "PCYT2",
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"dbsnp": "rs17850615",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9109008312225342,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.903,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.704,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.53,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.797,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000538936.7",
"gene_symbol": "PCYT2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.730T>C",
"hgvs_p": "p.Tyr244His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}