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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: X-85244123-A-AGGCGGCGGCGGCGGCGGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=85244123&ref=A&alt=AGGCGGCGGCGGCGGCGGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 85244123,
"ref": "A",
"alt": "AGGCGGCGGCGGCGGCGGC",
"effect": "5_prime_UTR_variant",
"transcript": "ENST00000674551.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-467_-450dupGGCGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "NM_001330574.2",
"protein_id": "NP_001317503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4559,
"mane_select": "ENST00000674551.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-467_-450dupGGCGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "ENST00000674551.1",
"protein_id": "ENSP00000502839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4559,
"mane_select": "NM_001330574.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-462_-445dupGGCGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "ENST00000276123.7",
"protein_id": "ENSP00000276123.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-208_-191dupGGCGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "ENST00000373165.7",
"protein_id": "ENSP00000362260.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-88_-71dupGGCGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "NM_001375431.1",
"protein_id": "NP_001362360.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-462_-445dupGGCGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "NM_001375432.1",
"protein_id": "NP_001362361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-825_-808dupGGCGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "NM_001375433.1",
"protein_id": "NP_001362362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4917,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-351_-334dupGGCGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "NM_001375434.1",
"protein_id": "NP_001362363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
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"cds_length": 2286,
"cdna_start": null,
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"cdna_length": 4305,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "ZNF711",
"gene_hgnc_id": 13128,
"hgvs_c": "c.-825_-808dupGGCGGCGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "NM_001375435.1",
"protein_id": "NP_001362364.1",
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},
{
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],
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"transcript": "NM_001375436.1",
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},
{
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],
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},
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},
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"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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"inheritance_mode": "XL",
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{
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"inheritance_mode": "",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}