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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: 11-12138114-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=12138114&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 12138114,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000683283.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICAL2",
"gene_hgnc_id": 24693,
"hgvs_c": "c.-148-276C>A",
"hgvs_p": null,
"transcript": "NM_001282663.2",
"protein_id": "NP_001269592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1124,
"cds_start": -4,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": "ENST00000683283.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICAL2",
"gene_hgnc_id": 24693,
"hgvs_c": "c.-148-276C>A",
"hgvs_p": null,
"transcript": "ENST00000683283.1",
"protein_id": "ENSP00000507067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1124,
"cds_start": -4,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": "NM_001282663.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICAL2",
"gene_hgnc_id": 24693,
"hgvs_c": "c.-152-276C>A",
"hgvs_p": null,
"transcript": "ENST00000256194.8",
"protein_id": "ENSP00000256194.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1124,
"cds_start": -4,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICAL2",
"gene_hgnc_id": 24693,
"hgvs_c": "c.-152-276C>A",
"hgvs_p": null,
"transcript": "NM_001393937.1",
"protein_id": "NP_001380866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1957,
"cds_start": -4,
"cds_end": null,
"cds_length": 5874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICAL2",
"gene_hgnc_id": 24693,
"hgvs_c": "c.-77-23965C>A",
"hgvs_p": null,
"transcript": "NM_001346292.2",
"protein_id": "NP_001333221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1124,
"cds_start": -4,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICAL2",
"gene_hgnc_id": 24693,
"hgvs_c": "c.-152-276C>A",
"hgvs_p": null,
"transcript": "NM_014632.4",
"protein_id": "NP_055447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1124,
"cds_start": -4,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MICAL2",
"gene_hgnc_id": 24693,
"hgvs_c": "c.-78+21198C>A",
"hgvs_p": null,
"transcript": "NM_001346293.2",
"protein_id": "NP_001333222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1103,
"cds_start": -4,
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"cds_length": 3312,
"cdna_start": null,
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"cdna_length": 3971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICAL2",
"gene_hgnc_id": 24693,
"hgvs_c": "c.-77-23965C>A",
"hgvs_p": null,
"transcript": "NM_001346294.2",
"protein_id": "NP_001333223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1103,
"cds_start": -4,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICAL2",
"gene_hgnc_id": 24693,
"hgvs_c": "c.-152-276C>A",
"hgvs_p": null,
"transcript": "NM_001346295.2",
"protein_id": "NP_001333224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1103,
"cds_start": -4,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 1,
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"gene_symbol": "MICAL2",
"gene_hgnc_id": 24693,
"hgvs_c": "c.-148-276C>A",
"hgvs_p": null,
"transcript": "NM_001346296.2",
"protein_id": "NP_001333225.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "MICAL2",
"gene_hgnc_id": 24693,
"hgvs_c": "c.-78+21309C>A",
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"transcript": "NM_001346297.2",
"protein_id": "NP_001333226.1",
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},
{
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],
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"gene_symbol": "MICAL2",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "MICAL2",
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"transcript": "NM_001346299.2",
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],
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"gene_symbol": "MICAL2",
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"hgvs_c": "c.-148-276C>A",
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},
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],
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"transcript": "NM_001282668.2",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "MICAL2",
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"hgvs_c": "c.-77-23965C>A",
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"transcript": "ENST00000532179.5",
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},
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],
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"gene_symbol": "MICAL2",
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"transcript": "ENST00000526065.1",
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},
{
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],
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"gene_symbol": "MICAL2",
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"hgvs_c": "c.-78+16465C>A",
"hgvs_p": null,
"transcript": "ENST00000532420.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "MICAL2",
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"hgvs_c": "c.-241-276C>A",
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"transcript": "ENST00000530823.1",
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},
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],
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],
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"hgvs_c": "n.138-276C>A",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 1,
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},
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{
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{
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],
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"gnomad_genomes_ac": 79288,
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"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.58,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"verdict": "Benign",
"transcript": "ENST00000683283.1",
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"effects": [
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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
}