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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: 20-34413871-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34413871&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 34413871,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001257137.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Cys156Tyr",
"transcript": "NM_031483.7",
"protein_id": "NP_113671.3",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 862,
"cds_start": 467,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374864.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031483.7"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Cys156Tyr",
"transcript": "ENST00000374864.10",
"protein_id": "ENSP00000363998.4",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 862,
"cds_start": 467,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031483.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374864.10"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Cys156Tyr",
"transcript": "ENST00000262650.11",
"protein_id": "ENSP00000262650.5",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 903,
"cds_start": 467,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262650.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289720",
"gene_hgnc_id": null,
"hgvs_c": "n.467G>A",
"hgvs_p": null,
"transcript": "ENST00000696979.1",
"protein_id": "ENSP00000513014.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000696979.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "XM_047440537.1",
"protein_id": "XP_047296493.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 692,
"cds_start": 3,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440537.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Cys156Tyr",
"transcript": "ENST00000884259.1",
"protein_id": "ENSP00000554318.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 909,
"cds_start": 467,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884259.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Cys156Tyr",
"transcript": "NM_001257137.3",
"protein_id": "NP_001244066.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 903,
"cds_start": 467,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257137.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Cys156Tyr",
"transcript": "NM_001324197.2",
"protein_id": "NP_001311126.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 903,
"cds_start": 467,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324197.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Cys156Tyr",
"transcript": "ENST00000665346.1",
"protein_id": "ENSP00000499786.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 903,
"cds_start": 467,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000665346.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Cys194Tyr",
"transcript": "ENST00000670516.1",
"protein_id": "ENSP00000499526.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 900,
"cds_start": 581,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000670516.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Cys156Tyr",
"transcript": "ENST00000884255.1",
"protein_id": "ENSP00000554314.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 871,
"cds_start": 467,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884255.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Cys156Tyr",
"transcript": "ENST00000696975.1",
"protein_id": "ENSP00000513012.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 866,
"cds_start": 467,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696975.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Cys156Tyr",
"transcript": "NM_001324198.2",
"protein_id": "NP_001311127.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 862,
"cds_start": 467,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324198.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Cys156Tyr",
"transcript": "ENST00000884253.1",
"protein_id": "ENSP00000554312.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 862,
"cds_start": 467,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884253.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Cys156Tyr",
"transcript": "ENST00000884254.1",
"protein_id": "ENSP00000554313.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 862,
"cds_start": 467,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884254.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Cys156Tyr",
"transcript": "ENST00000884258.1",
"protein_id": "ENSP00000554317.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 862,
"cds_start": 467,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884258.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Cys156Tyr",
"transcript": "ENST00000665484.2",
"protein_id": "ENSP00000499605.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 830,
"cds_start": 467,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000665484.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Cys156Tyr",
"transcript": "ENST00000660337.1",
"protein_id": "ENSP00000499685.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 779,
"cds_start": 467,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000660337.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Cys67Tyr",
"transcript": "ENST00000943493.1",
"protein_id": "ENSP00000613552.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 773,
"cds_start": 200,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943493.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.137G>A",
"hgvs_p": "p.Cys46Tyr",
"transcript": "NM_001257138.3",
"protein_id": "NP_001244067.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 752,
"cds_start": 137,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257138.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.137G>A",
"hgvs_p": "p.Cys46Tyr",
"transcript": "ENST00000535650.8",
"protein_id": "ENSP00000445608.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 752,
"cds_start": 137,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535650.8"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.467G>A",
"hgvs_p": "p.Cys156Tyr",
"transcript": "ENST00000884256.1",
"protein_id": "ENSP00000554315.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 639,
"cds_start": 467,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884256.1"
},
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"verdict": "Benign",
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{
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Syndromic multisystem autoimmune disease due to ITCH deficiency|ITCH-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}