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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: 10-104041526-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=104041526&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 104041526,
"ref": "A",
"alt": "C",
"effect": "stop_gained",
"transcript": "NM_000494.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.2564T>G",
"hgvs_p": "p.Leu855*",
"transcript": "NM_000494.4",
"protein_id": "NP_000485.3",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1497,
"cds_start": 2564,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000648076.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000494.4"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.2564T>G",
"hgvs_p": "p.Leu855*",
"transcript": "ENST00000648076.2",
"protein_id": "ENSP00000497653.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1497,
"cds_start": 2564,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000494.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648076.2"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.2564T>G",
"hgvs_p": "p.Leu855*",
"transcript": "ENST00000859462.1",
"protein_id": "ENSP00000529521.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1497,
"cds_start": 2564,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859462.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.2561T>G",
"hgvs_p": "p.Leu854*",
"transcript": "ENST00000859464.1",
"protein_id": "ENSP00000529523.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1496,
"cds_start": 2561,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859464.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.2552T>G",
"hgvs_p": "p.Leu851*",
"transcript": "ENST00000859463.1",
"protein_id": "ENSP00000529522.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1493,
"cds_start": 2552,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859463.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.2564T>G",
"hgvs_p": "p.Leu855*",
"transcript": "ENST00000859466.1",
"protein_id": "ENSP00000529525.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1492,
"cds_start": 2564,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859466.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.2564T>G",
"hgvs_p": "p.Leu855*",
"transcript": "ENST00000859461.1",
"protein_id": "ENSP00000529520.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1486,
"cds_start": 2564,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859461.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.2528T>G",
"hgvs_p": "p.Leu843*",
"transcript": "ENST00000859460.1",
"protein_id": "ENSP00000529519.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 1485,
"cds_start": 2528,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859460.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.2528T>G",
"hgvs_p": "p.Leu843*",
"transcript": "ENST00000859465.1",
"protein_id": "ENSP00000529524.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 1485,
"cds_start": 2528,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859465.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.2414T>G",
"hgvs_p": "p.Leu805*",
"transcript": "ENST00000961906.1",
"protein_id": "ENSP00000631965.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 1447,
"cds_start": 2414,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961906.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.2564T>G",
"hgvs_p": "p.Leu855*",
"transcript": "ENST00000369733.8",
"protein_id": "ENSP00000358748.3",
"transcript_support_level": 5,
"aa_start": 855,
"aa_end": null,
"aa_length": 1415,
"cds_start": 2564,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369733.8"
}
],
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"dbsnp": "rs121912772",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"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": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.975,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_000494.4",
"gene_symbol": "COL17A1",
"hgnc_id": 2194,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2564T>G",
"hgvs_p": "p.Leu855*"
}
],
"clinvar_disease": " intermediate, junctional 4,Epidermolysis bullosa",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Epidermolysis bullosa, junctional 4, intermediate",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}