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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: 19-40451486-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40451486&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40451486,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000713.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRB",
"gene_hgnc_id": 1063,
"hgvs_c": "c.341T>C",
"hgvs_p": "p.Leu114Pro",
"transcript": "NM_000713.3",
"protein_id": "NP_000704.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 206,
"cds_start": 341,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263368.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000713.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRB",
"gene_hgnc_id": 1063,
"hgvs_c": "c.341T>C",
"hgvs_p": "p.Leu114Pro",
"transcript": "ENST00000263368.9",
"protein_id": "ENSP00000263368.3",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 206,
"cds_start": 341,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000713.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263368.9"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRB",
"gene_hgnc_id": 1063,
"hgvs_c": "c.458T>C",
"hgvs_p": "p.Leu153Pro",
"transcript": "ENST00000643519.1",
"protein_id": "ENSP00000494515.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 245,
"cds_start": 458,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643519.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRB",
"gene_hgnc_id": 1063,
"hgvs_c": "c.341T>C",
"hgvs_p": "p.Leu114Pro",
"transcript": "ENST00000926837.1",
"protein_id": "ENSP00000596896.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 205,
"cds_start": 341,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926837.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRB",
"gene_hgnc_id": 1063,
"hgvs_c": "c.329T>C",
"hgvs_p": "p.Leu110Pro",
"transcript": "ENST00000858750.1",
"protein_id": "ENSP00000528809.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 202,
"cds_start": 329,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858750.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRB",
"gene_hgnc_id": 1063,
"hgvs_c": "c.311T>C",
"hgvs_p": "p.Leu104Pro",
"transcript": "ENST00000858751.1",
"protein_id": "ENSP00000528810.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 196,
"cds_start": 311,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858751.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRB",
"gene_hgnc_id": 1063,
"hgvs_c": "c.341T>C",
"hgvs_p": "p.Leu114Pro",
"transcript": "ENST00000858752.1",
"protein_id": "ENSP00000528811.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 196,
"cds_start": 341,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858752.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRB",
"gene_hgnc_id": 1063,
"hgvs_c": "c.251T>C",
"hgvs_p": "p.Leu84Pro",
"transcript": "ENST00000858749.1",
"protein_id": "ENSP00000528808.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 176,
"cds_start": 251,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858749.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BLVRB",
"gene_hgnc_id": 1063,
"hgvs_c": "c.335-3440T>C",
"hgvs_p": null,
"transcript": "ENST00000595483.5",
"protein_id": "ENSP00000471720.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595483.5"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BLVRB",
"gene_hgnc_id": 1063,
"hgvs_c": "c.172-38T>C",
"hgvs_p": null,
"transcript": "ENST00000926838.1",
"protein_id": "ENSP00000596897.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926838.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRB",
"gene_hgnc_id": 1063,
"hgvs_c": "n.*532T>C",
"hgvs_p": null,
"transcript": "ENST00000597870.1",
"protein_id": "ENSP00000470619.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000597870.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRB",
"gene_hgnc_id": 1063,
"hgvs_c": "n.310T>C",
"hgvs_p": null,
"transcript": "ENST00000601346.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000601346.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRB",
"gene_hgnc_id": 1063,
"hgvs_c": "n.322T>C",
"hgvs_p": null,
"transcript": "ENST00000643596.1",
"protein_id": "ENSP00000496337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643596.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRB",
"gene_hgnc_id": 1063,
"hgvs_c": "n.*532T>C",
"hgvs_p": null,
"transcript": "ENST00000597870.1",
"protein_id": "ENSP00000470619.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000597870.1"
}
],
"gene_symbol": "BLVRB",
"gene_hgnc_id": 1063,
"dbsnp": "rs757578768",
"frequency_reference_population": 0.000015538297,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000157738,
"gnomad_genomes_af": 0.0000132612,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8297218084335327,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.56,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9461,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.843,
"phylop100way_prediction": "Pathogenic",
"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_000713.3",
"gene_symbol": "BLVRB",
"hgnc_id": 1063,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.341T>C",
"hgvs_p": "p.Leu114Pro"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}