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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: 17-50188111-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50188111&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50188111,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_000088.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3245delG",
"hgvs_p": "p.Gly1082fs",
"transcript": "NM_000088.4",
"protein_id": "NP_000079.2",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3245,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 3363,
"cdna_end": null,
"cdna_length": 5914,
"mane_select": "ENST00000225964.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000088.4"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3245delG",
"hgvs_p": "p.Gly1082fs",
"transcript": "ENST00000225964.10",
"protein_id": "ENSP00000225964.6",
"transcript_support_level": 1,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3245,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 3363,
"cdna_end": null,
"cdna_length": 5914,
"mane_select": "NM_000088.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225964.10"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3245delG",
"hgvs_p": "p.Gly1082fs",
"transcript": "ENST00000861334.1",
"protein_id": "ENSP00000531393.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3245,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3361,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861334.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3245delG",
"hgvs_p": "p.Gly1082fs",
"transcript": "ENST00000861339.1",
"protein_id": "ENSP00000531398.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3245,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3363,
"cdna_end": null,
"cdna_length": 4765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861339.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3230delG",
"hgvs_p": "p.Gly1077fs",
"transcript": "ENST00000861340.1",
"protein_id": "ENSP00000531399.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1459,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4380,
"cdna_start": 3351,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861340.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3209delG",
"hgvs_p": "p.Gly1070fs",
"transcript": "ENST00000861338.1",
"protein_id": "ENSP00000531397.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1452,
"cds_start": 3209,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 3327,
"cdna_end": null,
"cdna_length": 4732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861338.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3191delG",
"hgvs_p": "p.Gly1064fs",
"transcript": "ENST00000861336.1",
"protein_id": "ENSP00000531395.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1446,
"cds_start": 3191,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 3309,
"cdna_end": null,
"cdna_length": 4714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861336.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3191delG",
"hgvs_p": "p.Gly1064fs",
"transcript": "ENST00000861342.1",
"protein_id": "ENSP00000531401.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1446,
"cds_start": 3191,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 3309,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861342.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3146delG",
"hgvs_p": "p.Gly1049fs",
"transcript": "ENST00000919350.1",
"protein_id": "ENSP00000589409.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1431,
"cds_start": 3146,
"cds_end": null,
"cds_length": 4296,
"cdna_start": 3263,
"cdna_end": null,
"cdna_length": 4687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919350.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3137delG",
"hgvs_p": "p.Gly1046fs",
"transcript": "ENST00000861343.1",
"protein_id": "ENSP00000531402.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1428,
"cds_start": 3137,
"cds_end": null,
"cds_length": 4287,
"cdna_start": 3255,
"cdna_end": null,
"cdna_length": 4656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861343.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3119delG",
"hgvs_p": "p.Gly1040fs",
"transcript": "ENST00000861337.1",
"protein_id": "ENSP00000531396.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1422,
"cds_start": 3119,
"cds_end": null,
"cds_length": 4269,
"cdna_start": 3237,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861337.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3110delG",
"hgvs_p": "p.Gly1037fs",
"transcript": "ENST00000861344.1",
"protein_id": "ENSP00000531403.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1419,
"cds_start": 3110,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 3226,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861344.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2462delG",
"hgvs_p": "p.Gly821fs",
"transcript": "ENST00000861341.1",
"protein_id": "ENSP00000531400.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 1203,
"cds_start": 2462,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 2580,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861341.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2066delG",
"hgvs_p": "p.Gly689fs",
"transcript": "ENST00000861335.1",
"protein_id": "ENSP00000531394.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2066,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 2184,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861335.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.1616delG",
"hgvs_p": "p.Gly539fs",
"transcript": "ENST00000963828.1",
"protein_id": "ENSP00000633887.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 921,
"cds_start": 1616,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963828.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3047delG",
"hgvs_p": "p.Gly1016fs",
"transcript": "XM_011524341.2",
"protein_id": "XP_011522643.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1398,
"cds_start": 3047,
"cds_end": null,
"cds_length": 4197,
"cdna_start": 3165,
"cdna_end": null,
"cdna_length": 5716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524341.2"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2975delG",
"hgvs_p": "p.Gly992fs",
"transcript": "XM_005257058.5",
"protein_id": "XP_005257115.2",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1374,
"cds_start": 2975,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 3093,
"cdna_end": null,
"cdna_length": 5644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257058.5"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2327delG",
"hgvs_p": "p.Gly776fs",
"transcript": "XM_005257059.5",
"protein_id": "XP_005257116.2",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 1158,
"cds_start": 2327,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 2445,
"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.1822-990delG",
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "n.443delG",
"hgvs_p": null,
"transcript": "ENST00000486572.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 836,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486572.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "n.569delG",
"hgvs_p": null,
"transcript": "ENST00000511732.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 789,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000511732.1"
}
],
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"dbsnp": "rs1555572161",
"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": 7.648,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_000088.4",
"gene_symbol": "COL1A1",
"hgnc_id": 2197,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3245delG",
"hgvs_p": "p.Gly1082fs"
}
],
"clinvar_disease": "Osteogenesis imperfecta type I",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Osteogenesis imperfecta type I",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}