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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: 1-103082763-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=103082763&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 103082763,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000370096.9",
"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": 67,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.274+42G>C",
"hgvs_p": null,
"transcript": "NM_001854.4",
"protein_id": "NP_001845.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1806,
"cds_start": -4,
"cds_end": null,
"cds_length": 5421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7311,
"mane_select": "ENST00000370096.9",
"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": 67,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.274+42G>C",
"hgvs_p": null,
"transcript": "ENST00000370096.9",
"protein_id": "ENSP00000359114.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1806,
"cds_start": -4,
"cds_end": null,
"cds_length": 5421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7311,
"mane_select": "NM_001854.4",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.274+42G>C",
"hgvs_p": null,
"transcript": "ENST00000512756.5",
"protein_id": "ENSP00000426533.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1690,
"cds_start": -4,
"cds_end": null,
"cds_length": 5073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5442,
"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": 67,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.274+42G>C",
"hgvs_p": null,
"transcript": "NM_080629.3",
"protein_id": "NP_542196.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1818,
"cds_start": -4,
"cds_end": null,
"cds_length": 5457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7347,
"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": 67,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.274+42G>C",
"hgvs_p": null,
"transcript": "ENST00000358392.6",
"protein_id": "ENSP00000351163.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1818,
"cds_start": -4,
"cds_end": null,
"cds_length": 5457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7327,
"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": 66,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.274+42G>C",
"hgvs_p": null,
"transcript": "NM_001190709.2",
"protein_id": "NP_001177638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1767,
"cds_start": -4,
"cds_end": null,
"cds_length": 5304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7194,
"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": 66,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.274+42G>C",
"hgvs_p": null,
"transcript": "ENST00000353414.8",
"protein_id": "ENSP00000302551.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1767,
"cds_start": -4,
"cds_end": null,
"cds_length": 5304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7173,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.274+42G>C",
"hgvs_p": null,
"transcript": "NM_080630.4",
"protein_id": "NP_542197.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1690,
"cds_start": -4,
"cds_end": null,
"cds_length": 5073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6963,
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.274+42G>C",
"hgvs_p": null,
"transcript": "ENST00000461720.6",
"protein_id": "ENSP00000494909.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": -4,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2790,
"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": 25,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.274+42G>C",
"hgvs_p": null,
"transcript": "ENST00000647280.1",
"protein_id": "ENSP00000494583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": -4,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2858,
"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": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.274+42G>C",
"hgvs_p": null,
"transcript": "ENST00000644186.1",
"protein_id": "ENSP00000493821.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3151,
"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": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.274+42G>C",
"hgvs_p": null,
"transcript": "ENST00000645458.1",
"protein_id": "ENSP00000494179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": -4,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2442,
"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.274+42G>C",
"hgvs_p": null,
"transcript": "ENST00000427239.5",
"protein_id": "ENSP00000408640.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 568,
"cds_start": -4,
"cds_end": null,
"cds_length": 1709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1709,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.55+42G>C",
"hgvs_p": null,
"transcript": "ENST00000447608.1",
"protein_id": "ENSP00000410177.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "n.618+42G>C",
"hgvs_p": null,
"transcript": "NR_134980.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7327,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.274+42G>C",
"hgvs_p": null,
"transcript": "XM_017000334.2",
"protein_id": "XP_016855823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1857,
"cds_start": -4,
"cds_end": null,
"cds_length": 5574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7464,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.274+42G>C",
"hgvs_p": null,
"transcript": "XM_017000335.2",
"protein_id": "XP_016855824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1855,
"cds_start": -4,
"cds_end": null,
"cds_length": 5568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7458,
"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": 59,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.274+42G>C",
"hgvs_p": null,
"transcript": "XM_017000336.2",
"protein_id": "XP_016855825.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1515,
"cds_start": -4,
"cds_end": null,
"cds_length": 4548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "n.618+42G>C",
"hgvs_p": null,
"transcript": "XR_007085257.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"dbsnp": "rs11164662",
"frequency_reference_population": 0.57138336,
"hom_count_reference_population": 256878,
"allele_count_reference_population": 870114,
"gnomad_exomes_af": 0.579605,
"gnomad_genomes_af": 0.497101,
"gnomad_exomes_ac": 794678,
"gnomad_genomes_ac": 75436,
"gnomad_exomes_homalt": 235921,
"gnomad_genomes_homalt": 20957,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"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": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.073,
"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": -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": "ENST00000370096.9",
"gene_symbol": "COL11A1",
"hgnc_id": 2186,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.274+42G>C",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal dominant 37,Fibrochondrogenesis 1,Hearing loss,Marshall syndrome,Stickler syndrome type 2,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|not provided|Hearing loss, autosomal dominant 37|Stickler syndrome type 2|Marshall syndrome|Fibrochondrogenesis 1",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}