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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: 10-104033992-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=104033992&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 104033992,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000494.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.4109A>G",
"hgvs_p": "p.Asp1370Gly",
"transcript": "NM_000494.4",
"protein_id": "NP_000485.3",
"transcript_support_level": null,
"aa_start": 1370,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4109,
"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": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.4109A>G",
"hgvs_p": "p.Asp1370Gly",
"transcript": "ENST00000648076.2",
"protein_id": "ENSP00000497653.1",
"transcript_support_level": null,
"aa_start": 1370,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4109,
"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": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.4109A>G",
"hgvs_p": "p.Asp1370Gly",
"transcript": "ENST00000859462.1",
"protein_id": "ENSP00000529521.1",
"transcript_support_level": null,
"aa_start": 1370,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4109,
"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": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.4106A>G",
"hgvs_p": "p.Asp1369Gly",
"transcript": "ENST00000859464.1",
"protein_id": "ENSP00000529523.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1496,
"cds_start": 4106,
"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": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.4097A>G",
"hgvs_p": "p.Asp1366Gly",
"transcript": "ENST00000859463.1",
"protein_id": "ENSP00000529522.1",
"transcript_support_level": null,
"aa_start": 1366,
"aa_end": null,
"aa_length": 1493,
"cds_start": 4097,
"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": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.4094A>G",
"hgvs_p": "p.Asp1365Gly",
"transcript": "ENST00000859466.1",
"protein_id": "ENSP00000529525.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1492,
"cds_start": 4094,
"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": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.4076A>G",
"hgvs_p": "p.Asp1359Gly",
"transcript": "ENST00000859461.1",
"protein_id": "ENSP00000529520.1",
"transcript_support_level": null,
"aa_start": 1359,
"aa_end": null,
"aa_length": 1486,
"cds_start": 4076,
"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": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.4073A>G",
"hgvs_p": "p.Asp1358Gly",
"transcript": "ENST00000859460.1",
"protein_id": "ENSP00000529519.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1485,
"cds_start": 4073,
"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": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.4073A>G",
"hgvs_p": "p.Asp1358Gly",
"transcript": "ENST00000859465.1",
"protein_id": "ENSP00000529524.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1485,
"cds_start": 4073,
"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": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.3959A>G",
"hgvs_p": "p.Asp1320Gly",
"transcript": "ENST00000961906.1",
"protein_id": "ENSP00000631965.1",
"transcript_support_level": null,
"aa_start": 1320,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3959,
"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": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "c.3863A>G",
"hgvs_p": "p.Asp1288Gly",
"transcript": "ENST00000369733.8",
"protein_id": "ENSP00000358748.3",
"transcript_support_level": 5,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1415,
"cds_start": 3863,
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"hgvs_c": "n.137A>G",
"hgvs_p": null,
"transcript": "ENST00000647647.1",
"protein_id": "ENSP00000497865.1",
"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": "ENST00000647647.1"
}
],
"gene_symbol": "COL17A1",
"gene_hgnc_id": 2194,
"dbsnp": "rs17116350",
"frequency_reference_population": 0.24690509,
"hom_count_reference_population": 50100,
"allele_count_reference_population": 398489,
"gnomad_exomes_af": 0.243742,
"gnomad_genomes_af": 0.277313,
"gnomad_exomes_ac": 356318,
"gnomad_genomes_ac": 42171,
"gnomad_exomes_homalt": 44002,
"gnomad_genomes_homalt": 6098,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002435356378555298,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.185,
"revel_prediction": "Benign",
"alphamissense_score": 0.068,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.157,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000494.4",
"gene_symbol": "COL17A1",
"hgnc_id": 2194,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4109A>G",
"hgvs_p": "p.Asp1370Gly"
}
],
"clinvar_disease": " non-Herlitz type,Epithelial recurrent erosion dystrophy,Junctional epidermolysis bullosa,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Junctional epidermolysis bullosa, non-Herlitz type|Epithelial recurrent erosion dystrophy|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}