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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: 8-142873115-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=142873115&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 142873115,
"ref": "C",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "NM_000497.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.*1258G>A",
"hgvs_p": null,
"transcript": "NM_000497.4",
"protein_id": "NP_000488.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": null,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292427.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000497.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.*1258G>A",
"hgvs_p": null,
"transcript": "ENST00000292427.10",
"protein_id": "ENSP00000292427.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": null,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000497.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292427.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.*1258G>A",
"hgvs_p": null,
"transcript": "ENST00000519285.5",
"protein_id": "ENSP00000430144.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519285.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.*1258G>A",
"hgvs_p": null,
"transcript": "ENST00000964969.1",
"protein_id": "ENSP00000635028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": null,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964969.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.*1258G>A",
"hgvs_p": null,
"transcript": "ENST00000964974.1",
"protein_id": "ENSP00000635033.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": null,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964974.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.*1258G>A",
"hgvs_p": null,
"transcript": "ENST00000964956.1",
"protein_id": "ENSP00000635015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": null,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964956.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.*1258G>A",
"hgvs_p": null,
"transcript": "ENST00000964968.1",
"protein_id": "ENSP00000635027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 545,
"cds_start": null,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964968.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.*1258G>A",
"hgvs_p": null,
"transcript": "ENST00000964955.1",
"protein_id": "ENSP00000635014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": null,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964955.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.*1258G>A",
"hgvs_p": null,
"transcript": "ENST00000964957.1",
"protein_id": "ENSP00000635016.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": null,
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"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964957.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.*1258G>A",
"hgvs_p": null,
"transcript": "ENST00000964962.1",
"protein_id": "ENSP00000635021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 505,
"cds_start": null,
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"cds_length": 1518,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964962.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.*1258G>A",
"hgvs_p": null,
"transcript": "ENST00000964970.1",
"protein_id": "ENSP00000635029.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "CYP11B1",
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"hgvs_c": "c.*1258G>A",
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"transcript": "ENST00000964975.1",
"protein_id": "ENSP00000635034.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "CYP11B1",
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"hgvs_c": "c.*1258G>A",
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"protein_id": "ENSP00000635023.1",
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},
{
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"strand": false,
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],
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "CYP11B1",
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"hgvs_c": "c.*1258G>A",
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"transcript": "ENST00000964967.1",
"protein_id": "ENSP00000635026.1",
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},
{
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],
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"gene_symbol": "CYP11B1",
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"feature": "ENST00000964959.1"
},
{
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"strand": false,
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],
"exon_rank": 9,
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"intron_rank": null,
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"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.*1258G>A",
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"transcript": "ENST00000964960.1",
"protein_id": "ENSP00000635019.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.*1258G>A",
"hgvs_p": null,
"transcript": "ENST00000964954.1",
"protein_id": "ENSP00000635013.1",
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},
{
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],
"exon_rank": 9,
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"exon_count": 9,
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"gene_symbol": "CYP11B1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "CYP11B1",
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.*1258G>A",
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"transcript": "ENST00000964953.1",
"protein_id": "ENSP00000635012.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000964953.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.*1258G>A",
"hgvs_p": null,
"transcript": "NM_001026213.1",
"protein_id": "NP_001021384.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 437,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001026213.1"
},
{
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{
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],
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"gnomad_exomes_af": 0,
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"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
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"revel_score": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -14,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -14,
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"criteria": [
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"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000497.4",
"gene_symbol": "CYP11B1",
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"effects": [
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"inheritance_mode": "AD,AR",
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},
{
"score": -14,
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"criteria": [
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"BS1",
"BS2"
],
"verdict": "Benign",
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],
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}
],
"clinvar_disease": "Deficiency of steroid 11-beta-monooxygenase,Glucocorticoid-remediable aldosteronism",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Deficiency of steroid 11-beta-monooxygenase|Glucocorticoid-remediable aldosteronism",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}