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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: 10-77425353-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=77425353&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 77425353,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000286628.14",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.379-21330A>C",
"hgvs_p": null,
"transcript": "NM_001161352.2",
"protein_id": "NP_001154824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1236,
"cds_start": -4,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6261,
"mane_select": "ENST00000286628.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.379-21330A>C",
"hgvs_p": null,
"transcript": "ENST00000286628.14",
"protein_id": "ENSP00000286628.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1236,
"cds_start": -4,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6261,
"mane_select": "NM_001161352.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.379-21330A>C",
"hgvs_p": null,
"transcript": "ENST00000626620.3",
"protein_id": "ENSP00000485867.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1219,
"cds_start": -4,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.379-21330A>C",
"hgvs_p": null,
"transcript": "ENST00000639406.1",
"protein_id": "ENSP00000491732.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1208,
"cds_start": -4,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.379-21330A>C",
"hgvs_p": null,
"transcript": "ENST00000286627.10",
"protein_id": "ENSP00000286627.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1178,
"cds_start": -4,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.379-174097A>C",
"hgvs_p": null,
"transcript": "ENST00000640807.1",
"protein_id": "ENSP00000491555.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1128,
"cds_start": -4,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.-6602A>C",
"hgvs_p": null,
"transcript": "XM_024447986.2",
"protein_id": "XP_024303754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1109,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 18643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.379-21330A>C",
"hgvs_p": null,
"transcript": "ENST00000404771.8",
"protein_id": "ENSP00000385717.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": -4,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNMA1",
"gene_hgnc_id": 6284,
"hgvs_c": "c.379-21330A>C",
"hgvs_p": null,
"transcript": "ENST00000639591.1",
"protein_id": "ENSP00000492793.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1246,
"cds_start": -4,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 1,
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"gene_symbol": "KCNMA1",
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"hgvs_c": "c.379-21330A>C",
"hgvs_p": null,
"transcript": "ENST00000640523.1",
"protein_id": "ENSP00000491795.1",
"transcript_support_level": 5,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 1,
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"gene_symbol": "KCNMA1",
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"hgvs_c": "c.379-21330A>C",
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"transcript": "ENST00000638759.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "KCNMA1",
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"transcript": "ENST00000638848.1",
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},
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],
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"gene_symbol": "KCNMA1",
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},
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],
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},
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],
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"gene_symbol": "KCNMA1",
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],
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],
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"gene_symbol": "KCNMA1",
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},
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],
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"gene_symbol": "KCNMA1",
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},
{
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},
{
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}
],
"gene_symbol": "KCNMA1",
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"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.91,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000286628.14",
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},
{
"score": -2,
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"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000730953.1",
"gene_symbol": "ENSG00000295562",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.162+324T>G",
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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
}