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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: 1-33576185-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=33576185&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 33576185,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000373381.9",
"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": 71,
"intron_rank": 49,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.7576+1111C>T",
"hgvs_p": null,
"transcript": "NM_001281956.2",
"protein_id": "NP_001268885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3631,
"cds_start": -4,
"cds_end": null,
"cds_length": 10896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13655,
"mane_select": "ENST00000373381.9",
"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": 71,
"intron_rank": 49,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.7576+1111C>T",
"hgvs_p": null,
"transcript": "ENST00000373381.9",
"protein_id": "ENSP00000362479.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3631,
"cds_start": -4,
"cds_end": null,
"cds_length": 10896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13655,
"mane_select": "NM_001281956.2",
"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": 70,
"intron_rank": 50,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.7582+1111C>T",
"hgvs_p": null,
"transcript": "ENST00000373388.7",
"protein_id": "ENSP00000362486.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3487,
"cds_start": -4,
"cds_end": null,
"cds_length": 10464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13108,
"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": 71,
"intron_rank": 49,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.7456+1111C>T",
"hgvs_p": null,
"transcript": "ENST00000619121.4",
"protein_id": "ENSP00000483463.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3591,
"cds_start": -4,
"cds_end": null,
"cds_length": 10776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13430,
"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": 70,
"intron_rank": 50,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.7582+1111C>T",
"hgvs_p": null,
"transcript": "NM_052896.5",
"protein_id": "NP_443128.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3487,
"cds_start": -4,
"cds_end": null,
"cds_length": 10464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13119,
"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": 70,
"intron_rank": 49,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.7576+1111C>T",
"hgvs_p": null,
"transcript": "XM_017000185.2",
"protein_id": "XP_016855674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3607,
"cds_start": -4,
"cds_end": null,
"cds_length": 10824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16477,
"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": 71,
"intron_rank": 49,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.7576+1111C>T",
"hgvs_p": null,
"transcript": "XM_047443607.1",
"protein_id": "XP_047299563.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3607,
"cds_start": -4,
"cds_end": null,
"cds_length": 10824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13583,
"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": 71,
"intron_rank": 49,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.7576+1111C>T",
"hgvs_p": null,
"transcript": "XM_047443642.1",
"protein_id": "XP_047299598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3606,
"cds_start": -4,
"cds_end": null,
"cds_length": 10821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13580,
"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": 71,
"intron_rank": 49,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.7456+1111C>T",
"hgvs_p": null,
"transcript": "XM_047443656.1",
"protein_id": "XP_047299612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3567,
"cds_start": -4,
"cds_end": null,
"cds_length": 10704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13359,
"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": 71,
"intron_rank": 49,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.7456+1111C>T",
"hgvs_p": null,
"transcript": "XM_047443685.1",
"protein_id": "XP_047299641.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3566,
"cds_start": -4,
"cds_end": null,
"cds_length": 10701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13356,
"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": 68,
"intron_rank": 49,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.7576+1111C>T",
"hgvs_p": null,
"transcript": "XM_047443661.1",
"protein_id": "XP_047299617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3506,
"cds_start": -4,
"cds_end": null,
"cds_length": 10521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10892,
"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": 65,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.6841+1111C>T",
"hgvs_p": null,
"transcript": "XM_047443666.1",
"protein_id": "XP_047299622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3362,
"cds_start": -4,
"cds_end": null,
"cds_length": 10089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12848,
"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": 57,
"intron_rank": 49,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.7576+1111C>T",
"hgvs_p": null,
"transcript": "XM_017000191.2",
"protein_id": "XP_016855680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2973,
"cds_start": -4,
"cds_end": null,
"cds_length": 8922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"dbsnp": "rs16835611",
"frequency_reference_population": 0.12202479,
"hom_count_reference_population": 1416,
"allele_count_reference_population": 18569,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.122025,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 18569,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1416,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.1,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000373381.9",
"gene_symbol": "CSMD2",
"hgnc_id": 19290,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.7576+1111C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}