← Back to variant description
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: 17-50189193-CCTCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50189193&ref=CCTCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50189193,
"ref": "CCTCT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_000088.4",
"consequences": [
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2908_2911delAGAG",
"hgvs_p": "p.Arg970fs",
"transcript": "NM_000088.4",
"protein_id": "NP_000079.2",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1464,
"cds_start": 2908,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 3029,
"cdna_end": null,
"cdna_length": 5914,
"mane_select": "ENST00000225964.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000088.4"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2908_2911delAGAG",
"hgvs_p": "p.Arg970fs",
"transcript": "ENST00000225964.10",
"protein_id": "ENSP00000225964.6",
"transcript_support_level": 1,
"aa_start": 970,
"aa_end": null,
"aa_length": 1464,
"cds_start": 2908,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 3029,
"cdna_end": null,
"cdna_length": 5914,
"mane_select": "NM_000088.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225964.10"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2908_2911delAGAG",
"hgvs_p": "p.Arg970fs",
"transcript": "ENST00000861334.1",
"protein_id": "ENSP00000531393.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1463,
"cds_start": 2908,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3027,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861334.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2908_2911delAGAG",
"hgvs_p": "p.Arg970fs",
"transcript": "ENST00000861339.1",
"protein_id": "ENSP00000531398.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1463,
"cds_start": 2908,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3029,
"cdna_end": null,
"cdna_length": 4765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861339.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2893_2896delAGAG",
"hgvs_p": "p.Arg965fs",
"transcript": "ENST00000861340.1",
"protein_id": "ENSP00000531399.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1459,
"cds_start": 2893,
"cds_end": null,
"cds_length": 4380,
"cdna_start": 3017,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861340.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2872_2875delAGAG",
"hgvs_p": "p.Arg958fs",
"transcript": "ENST00000861338.1",
"protein_id": "ENSP00000531397.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1452,
"cds_start": 2872,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 2993,
"cdna_end": null,
"cdna_length": 4732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861338.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2854_2857delAGAG",
"hgvs_p": "p.Arg952fs",
"transcript": "ENST00000861336.1",
"protein_id": "ENSP00000531395.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1446,
"cds_start": 2854,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 2975,
"cdna_end": null,
"cdna_length": 4714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861336.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2854_2857delAGAG",
"hgvs_p": "p.Arg952fs",
"transcript": "ENST00000861342.1",
"protein_id": "ENSP00000531401.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1446,
"cds_start": 2854,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 2975,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861342.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2809_2812delAGAG",
"hgvs_p": "p.Arg937fs",
"transcript": "ENST00000919350.1",
"protein_id": "ENSP00000589409.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 1431,
"cds_start": 2809,
"cds_end": null,
"cds_length": 4296,
"cdna_start": 2929,
"cdna_end": null,
"cdna_length": 4687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919350.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2800_2803delAGAG",
"hgvs_p": "p.Arg934fs",
"transcript": "ENST00000861343.1",
"protein_id": "ENSP00000531402.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1428,
"cds_start": 2800,
"cds_end": null,
"cds_length": 4287,
"cdna_start": 2921,
"cdna_end": null,
"cdna_length": 4656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861343.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2782_2785delAGAG",
"hgvs_p": "p.Arg928fs",
"transcript": "ENST00000861337.1",
"protein_id": "ENSP00000531396.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1422,
"cds_start": 2782,
"cds_end": null,
"cds_length": 4269,
"cdna_start": 2903,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861337.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2773_2776delAGAG",
"hgvs_p": "p.Arg925fs",
"transcript": "ENST00000861344.1",
"protein_id": "ENSP00000531403.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1419,
"cds_start": 2773,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 2892,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861344.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2125_2128delAGAG",
"hgvs_p": "p.Arg709fs",
"transcript": "ENST00000861341.1",
"protein_id": "ENSP00000531400.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 1203,
"cds_start": 2125,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861341.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.1729_1732delAGAG",
"hgvs_p": "p.Arg577fs",
"transcript": "ENST00000861335.1",
"protein_id": "ENSP00000531394.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 1071,
"cds_start": 1729,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861335.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.1279_1282delAGAG",
"hgvs_p": "p.Arg427fs",
"transcript": "ENST00000963828.1",
"protein_id": "ENSP00000633887.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 921,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963828.1"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2710_2713delAGAG",
"hgvs_p": "p.Arg904fs",
"transcript": "XM_011524341.2",
"protein_id": "XP_011522643.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1398,
"cds_start": 2710,
"cds_end": null,
"cds_length": 4197,
"cdna_start": 2831,
"cdna_end": null,
"cdna_length": 5716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524341.2"
},
{
"aa_ref": "RG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.1990_1993delAGAG",
"hgvs_p": "p.Arg664fs",
"transcript": "XM_005257059.5",
"protein_id": "XP_005257116.2",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 1158,
"cds_start": 1990,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 4996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257059.5"
},
{
"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": 31,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.1822-2075_1822-2072delAGAG",
"hgvs_p": null,
"transcript": "ENST00000861333.1",
"protein_id": "ENSP00000531392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": null,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861333.1"
},
{
"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": 49,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2668-187_2668-184delAGAG",
"hgvs_p": null,
"transcript": "XM_005257058.5",
"protein_id": "XP_005257115.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1374,
"cds_start": null,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257058.5"
}
],
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"dbsnp": "rs1555572401",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.824,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000088.4",
"gene_symbol": "COL1A1",
"hgnc_id": 2197,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2908_2911delAGAG",
"hgvs_p": "p.Arg970fs"
}
],
"clinvar_disease": "Osteogenesis imperfecta type I,Osteogenesis imperfecta type III",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Osteogenesis imperfecta type I|Osteogenesis imperfecta type III",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}