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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: 1-33519618-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=33519618&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 33519618,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001281956.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.10796C>A",
"hgvs_p": "p.Ala3599Asp",
"transcript": "NM_001281956.2",
"protein_id": "NP_001268885.1",
"transcript_support_level": null,
"aa_start": 3599,
"aa_end": null,
"aa_length": 3631,
"cds_start": 10796,
"cds_end": null,
"cds_length": 10896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373381.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281956.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.10796C>A",
"hgvs_p": "p.Ala3599Asp",
"transcript": "ENST00000373381.9",
"protein_id": "ENSP00000362479.4",
"transcript_support_level": 1,
"aa_start": 3599,
"aa_end": null,
"aa_length": 3631,
"cds_start": 10796,
"cds_end": null,
"cds_length": 10896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001281956.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373381.9"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.10364C>A",
"hgvs_p": "p.Ala3455Asp",
"transcript": "ENST00000373388.7",
"protein_id": "ENSP00000362486.3",
"transcript_support_level": 1,
"aa_start": 3455,
"aa_end": null,
"aa_length": 3487,
"cds_start": 10364,
"cds_end": null,
"cds_length": 10464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373388.7"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.10676C>A",
"hgvs_p": "p.Ala3559Asp",
"transcript": "ENST00000619121.4",
"protein_id": "ENSP00000483463.1",
"transcript_support_level": 5,
"aa_start": 3559,
"aa_end": null,
"aa_length": 3591,
"cds_start": 10676,
"cds_end": null,
"cds_length": 10776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619121.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 69,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.10364C>A",
"hgvs_p": "p.Ala3455Asp",
"transcript": "NM_052896.5",
"protein_id": "NP_443128.2",
"transcript_support_level": null,
"aa_start": 3455,
"aa_end": null,
"aa_length": 3487,
"cds_start": 10364,
"cds_end": null,
"cds_length": 10464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052896.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.10724C>A",
"hgvs_p": "p.Ala3575Asp",
"transcript": "XM_017000185.2",
"protein_id": "XP_016855674.1",
"transcript_support_level": null,
"aa_start": 3575,
"aa_end": null,
"aa_length": 3607,
"cds_start": 10724,
"cds_end": null,
"cds_length": 10824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000185.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.10724C>A",
"hgvs_p": "p.Ala3575Asp",
"transcript": "XM_047443607.1",
"protein_id": "XP_047299563.1",
"transcript_support_level": null,
"aa_start": 3575,
"aa_end": null,
"aa_length": 3607,
"cds_start": 10724,
"cds_end": null,
"cds_length": 10824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443607.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.10721C>A",
"hgvs_p": "p.Ala3574Asp",
"transcript": "XM_047443642.1",
"protein_id": "XP_047299598.1",
"transcript_support_level": null,
"aa_start": 3574,
"aa_end": null,
"aa_length": 3606,
"cds_start": 10721,
"cds_end": null,
"cds_length": 10821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443642.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.10604C>A",
"hgvs_p": "p.Ala3535Asp",
"transcript": "XM_047443656.1",
"protein_id": "XP_047299612.1",
"transcript_support_level": null,
"aa_start": 3535,
"aa_end": null,
"aa_length": 3567,
"cds_start": 10604,
"cds_end": null,
"cds_length": 10704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443656.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 70,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.10601C>A",
"hgvs_p": "p.Ala3534Asp",
"transcript": "XM_047443685.1",
"protein_id": "XP_047299641.1",
"transcript_support_level": null,
"aa_start": 3534,
"aa_end": null,
"aa_length": 3566,
"cds_start": 10601,
"cds_end": null,
"cds_length": 10701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443685.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 64,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"hgvs_c": "c.9989C>A",
"hgvs_p": "p.Ala3330Asp",
"transcript": "XM_047443666.1",
"protein_id": "XP_047299622.1",
"transcript_support_level": null,
"aa_start": 3330,
"aa_end": null,
"aa_length": 3362,
"cds_start": 9989,
"cds_end": null,
"cds_length": 10089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443666.1"
}
],
"gene_symbol": "CSMD2",
"gene_hgnc_id": 19290,
"dbsnp": "rs1463989820",
"frequency_reference_population": 0.0000013681257,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136813,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8377280235290527,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.385,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9106,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.394,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001281956.2",
"gene_symbol": "CSMD2",
"hgnc_id": 19290,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.10796C>A",
"hgvs_p": "p.Ala3599Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}