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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: 1-102914362-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=102914362&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 102914362,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000370096.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.3968C>G",
"hgvs_p": "p.Pro1323Arg",
"transcript": "NM_001854.4",
"protein_id": "NP_001845.3",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1806,
"cds_start": 3968,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 4312,
"cdna_end": null,
"cdna_length": 7311,
"mane_select": "ENST00000370096.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.3968C>G",
"hgvs_p": "p.Pro1323Arg",
"transcript": "ENST00000370096.9",
"protein_id": "ENSP00000359114.3",
"transcript_support_level": 1,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1806,
"cds_start": 3968,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 4312,
"cdna_end": null,
"cdna_length": 7311,
"mane_select": "NM_001854.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.3620C>G",
"hgvs_p": "p.Pro1207Arg",
"transcript": "ENST00000512756.5",
"protein_id": "ENSP00000426533.1",
"transcript_support_level": 1,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1690,
"cds_start": 3620,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 3921,
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "n.*1218C>G",
"hgvs_p": null,
"transcript": "ENST00000635193.1",
"protein_id": "ENSP00000489428.1",
"transcript_support_level": 1,
"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": 5289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "n.*1218C>G",
"hgvs_p": null,
"transcript": "ENST00000635193.1",
"protein_id": "ENSP00000489428.1",
"transcript_support_level": 1,
"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": 5289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.4004C>G",
"hgvs_p": "p.Pro1335Arg",
"transcript": "NM_080629.3",
"protein_id": "NP_542196.2",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1818,
"cds_start": 4004,
"cds_end": null,
"cds_length": 5457,
"cdna_start": 4348,
"cdna_end": null,
"cdna_length": 7347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.4004C>G",
"hgvs_p": "p.Pro1335Arg",
"transcript": "ENST00000358392.6",
"protein_id": "ENSP00000351163.2",
"transcript_support_level": 5,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1818,
"cds_start": 4004,
"cds_end": null,
"cds_length": 5457,
"cdna_start": 4322,
"cdna_end": null,
"cdna_length": 7327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.3851C>G",
"hgvs_p": "p.Pro1284Arg",
"transcript": "NM_001190709.2",
"protein_id": "NP_001177638.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1767,
"cds_start": 3851,
"cds_end": null,
"cds_length": 5304,
"cdna_start": 4195,
"cdna_end": null,
"cdna_length": 7194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.3851C>G",
"hgvs_p": "p.Pro1284Arg",
"transcript": "ENST00000353414.8",
"protein_id": "ENSP00000302551.6",
"transcript_support_level": 5,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1767,
"cds_start": 3851,
"cds_end": null,
"cds_length": 5304,
"cdna_start": 4169,
"cdna_end": null,
"cdna_length": 7173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.3620C>G",
"hgvs_p": "p.Pro1207Arg",
"transcript": "NM_080630.4",
"protein_id": "NP_542197.3",
"transcript_support_level": null,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1690,
"cds_start": 3620,
"cds_end": null,
"cds_length": 5073,
"cdna_start": 3964,
"cdna_end": null,
"cdna_length": 6963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.4121C>G",
"hgvs_p": "p.Pro1374Arg",
"transcript": "XM_017000334.2",
"protein_id": "XP_016855823.1",
"transcript_support_level": null,
"aa_start": 1374,
"aa_end": null,
"aa_length": 1857,
"cds_start": 4121,
"cds_end": null,
"cds_length": 5574,
"cdna_start": 4465,
"cdna_end": null,
"cdna_length": 7464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.4115C>G",
"hgvs_p": "p.Pro1372Arg",
"transcript": "XM_017000335.2",
"protein_id": "XP_016855824.1",
"transcript_support_level": null,
"aa_start": 1372,
"aa_end": null,
"aa_length": 1855,
"cds_start": 4115,
"cds_end": null,
"cds_length": 5568,
"cdna_start": 4459,
"cdna_end": null,
"cdna_length": 7458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.4121C>G",
"hgvs_p": "p.Pro1374Arg",
"transcript": "XM_017000336.2",
"protein_id": "XP_016855825.1",
"transcript_support_level": null,
"aa_start": 1374,
"aa_end": null,
"aa_length": 1515,
"cds_start": 4121,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 4465,
"cdna_end": null,
"cdna_length": 5369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "c.2519C>G",
"hgvs_p": "p.Pro840Arg",
"transcript": "XM_017000337.2",
"protein_id": "XP_016855826.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 1323,
"cds_start": 2519,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 2630,
"cdna_end": null,
"cdna_length": 5629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"hgvs_c": "n.4328C>G",
"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
}
],
"gene_symbol": "COL11A1",
"gene_hgnc_id": 2186,
"dbsnp": "rs3753841",
"frequency_reference_population": 0.000006592479,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.00000659248,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7002317309379578,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.63,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2154,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.294,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000370096.9",
"gene_symbol": "COL11A1",
"hgnc_id": 2186,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3968C>G",
"hgvs_p": "p.Pro1323Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}