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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: 17-50185855-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50185855&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "COL1A1",
"hgnc_id": 2197,
"hgvs_c": "c.4171C>T",
"hgvs_p": "p.Gln1391*",
"inheritance_mode": "AD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_000088.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "17",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Osteogenesis imperfecta",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1464,
"aa_ref": "Q",
"aa_start": 1391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5914,
"cdna_start": 4289,
"cds_end": null,
"cds_length": 4395,
"cds_start": 4171,
"consequences": [
"stop_gained"
],
"exon_count": 51,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "NM_000088.4",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4171C>T",
"hgvs_p": "p.Gln1391*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000225964.10",
"protein_coding": true,
"protein_id": "NP_000079.2",
"strand": false,
"transcript": "NM_000088.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1464,
"aa_ref": "Q",
"aa_start": 1391,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5914,
"cdna_start": 4289,
"cds_end": null,
"cds_length": 4395,
"cds_start": 4171,
"consequences": [
"stop_gained"
],
"exon_count": 51,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000225964.10",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4171C>T",
"hgvs_p": "p.Gln1391*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000088.4",
"protein_coding": true,
"protein_id": "ENSP00000225964.6",
"strand": false,
"transcript": "ENST00000225964.10",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "Q",
"aa_start": 1390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4778,
"cdna_start": 4284,
"cds_end": null,
"cds_length": 4392,
"cds_start": 4168,
"consequences": [
"stop_gained"
],
"exon_count": 51,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000861334.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4168C>T",
"hgvs_p": "p.Gln1390*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531393.1",
"strand": false,
"transcript": "ENST00000861334.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "Q",
"aa_start": 1390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4765,
"cdna_start": 4286,
"cds_end": null,
"cds_length": 4392,
"cds_start": 4168,
"consequences": [
"stop_gained"
],
"exon_count": 51,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000861339.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4168C>T",
"hgvs_p": "p.Gln1390*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531398.1",
"strand": false,
"transcript": "ENST00000861339.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1459,
"aa_ref": "Q",
"aa_start": 1386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4752,
"cdna_start": 4277,
"cds_end": null,
"cds_length": 4380,
"cds_start": 4156,
"consequences": [
"stop_gained"
],
"exon_count": 51,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000861340.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4156C>T",
"hgvs_p": "p.Gln1386*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531399.1",
"strand": false,
"transcript": "ENST00000861340.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1452,
"aa_ref": "Q",
"aa_start": 1379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4732,
"cdna_start": 4253,
"cds_end": null,
"cds_length": 4359,
"cds_start": 4135,
"consequences": [
"stop_gained"
],
"exon_count": 50,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000861338.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4135C>T",
"hgvs_p": "p.Gln1379*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531397.1",
"strand": false,
"transcript": "ENST00000861338.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1446,
"aa_ref": "Q",
"aa_start": 1373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4714,
"cdna_start": 4235,
"cds_end": null,
"cds_length": 4341,
"cds_start": 4117,
"consequences": [
"stop_gained"
],
"exon_count": 50,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000861336.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4117C>T",
"hgvs_p": "p.Gln1373*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531395.1",
"strand": false,
"transcript": "ENST00000861336.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1446,
"aa_ref": "Q",
"aa_start": 1373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4710,
"cdna_start": 4235,
"cds_end": null,
"cds_length": 4341,
"cds_start": 4117,
"consequences": [
"stop_gained"
],
"exon_count": 50,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000861342.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4117C>T",
"hgvs_p": "p.Gln1373*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531401.1",
"strand": false,
"transcript": "ENST00000861342.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1431,
"aa_ref": "Q",
"aa_start": 1358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4687,
"cdna_start": 4189,
"cds_end": null,
"cds_length": 4296,
"cds_start": 4072,
"consequences": [
"stop_gained"
],
"exon_count": 50,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000919350.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4072C>T",
"hgvs_p": "p.Gln1358*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589409.1",
"strand": false,
"transcript": "ENST00000919350.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1428,
"aa_ref": "Q",
"aa_start": 1355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4656,
"cdna_start": 4181,
"cds_end": null,
"cds_length": 4287,
"cds_start": 4063,
"consequences": [
"stop_gained"
],
"exon_count": 50,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000861343.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4063C>T",
"hgvs_p": "p.Gln1355*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531402.1",
"strand": false,
"transcript": "ENST00000861343.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1422,
"aa_ref": "Q",
"aa_start": 1349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4642,
"cdna_start": 4163,
"cds_end": null,
"cds_length": 4269,
"cds_start": 4045,
"consequences": [
"stop_gained"
],
"exon_count": 51,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000861337.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4045C>T",
"hgvs_p": "p.Gln1349*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531396.1",
"strand": false,
"transcript": "ENST00000861337.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "Q",
"aa_start": 1346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 4152,
"cds_end": null,
"cds_length": 4260,
"cds_start": 4036,
"consequences": [
"stop_gained"
],
"exon_count": 50,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000861344.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.4036C>T",
"hgvs_p": "p.Gln1346*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531403.1",
"strand": false,
"transcript": "ENST00000861344.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1203,
"aa_ref": "Q",
"aa_start": 1130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 3506,
"cds_end": null,
"cds_length": 3612,
"cds_start": 3388,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000861341.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3388C>T",
"hgvs_p": "p.Gln1130*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531400.1",
"strand": false,
"transcript": "ENST00000861341.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1071,
"aa_ref": "Q",
"aa_start": 998,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3589,
"cdna_start": 3110,
"cds_end": null,
"cds_length": 3216,
"cds_start": 2992,
"consequences": [
"stop_gained"
],
"exon_count": 35,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000861335.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Gln998*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531394.1",
"strand": false,
"transcript": "ENST00000861335.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 930,
"aa_ref": "Q",
"aa_start": 857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": 2687,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2569,
"consequences": [
"stop_gained"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000861333.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2569C>T",
"hgvs_p": "p.Gln857*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531392.1",
"strand": false,
"transcript": "ENST00000861333.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 921,
"aa_ref": "Q",
"aa_start": 848,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3106,
"cdna_start": 2656,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2542,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000963828.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2542C>T",
"hgvs_p": "p.Gln848*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633887.1",
"strand": false,
"transcript": "ENST00000963828.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1398,
"aa_ref": "Q",
"aa_start": 1325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5716,
"cdna_start": 4091,
"cds_end": null,
"cds_length": 4197,
"cds_start": 3973,
"consequences": [
"stop_gained"
],
"exon_count": 48,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "XM_011524341.2",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3973C>T",
"hgvs_p": "p.Gln1325*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522643.1",
"strand": false,
"transcript": "XM_011524341.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "Q",
"aa_start": 1301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5644,
"cdna_start": 4019,
"cds_end": null,
"cds_length": 4125,
"cds_start": 3901,
"consequences": [
"stop_gained"
],
"exon_count": 49,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_005257058.5",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3901C>T",
"hgvs_p": "p.Gln1301*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257115.2",
"strand": false,
"transcript": "XM_005257058.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1158,
"aa_ref": "Q",
"aa_start": 1085,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4996,
"cdna_start": 3371,
"cds_end": null,
"cds_length": 3477,
"cds_start": 3253,
"consequences": [
"stop_gained"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_005257059.5",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3253C>T",
"hgvs_p": "p.Gln1085*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005257116.2",
"strand": false,
"transcript": "XM_005257059.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1147,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000510710.3",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "n.1136C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000510710.3",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2586486",
"effect": "stop_gained",
"frequency_reference_population": null,
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Osteogenesis imperfecta",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.742,
"pos": 50185855,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.029999999329447746,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_000088.4"
}
]
}