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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: 17-50188134-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50188134&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COL1A1",
"hgnc_id": 2197,
"hgvs_c": "c.3223G>C",
"hgvs_p": "p.Ala1075Pro",
"inheritance_mode": "AD",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_000088.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP2",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1103,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Osteogenesis imperfecta type I",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.47130218148231506,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1464,
"aa_ref": "A",
"aa_start": 1075,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5914,
"cdna_start": 3341,
"cds_end": null,
"cds_length": 4395,
"cds_start": 3223,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "NM_000088.4",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3223G>C",
"hgvs_p": "p.Ala1075Pro",
"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": "P",
"aa_end": null,
"aa_length": 1464,
"aa_ref": "A",
"aa_start": 1075,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5914,
"cdna_start": 3341,
"cds_end": null,
"cds_length": 4395,
"cds_start": 3223,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000225964.10",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3223G>C",
"hgvs_p": "p.Ala1075Pro",
"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": "P",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "A",
"aa_start": 1075,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4778,
"cdna_start": 3339,
"cds_end": null,
"cds_length": 4392,
"cds_start": 3223,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000861334.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3223G>C",
"hgvs_p": "p.Ala1075Pro",
"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": "P",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "A",
"aa_start": 1075,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4765,
"cdna_start": 3341,
"cds_end": null,
"cds_length": 4392,
"cds_start": 3223,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000861339.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3223G>C",
"hgvs_p": "p.Ala1075Pro",
"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": "P",
"aa_end": null,
"aa_length": 1459,
"aa_ref": "A",
"aa_start": 1070,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4752,
"cdna_start": 3329,
"cds_end": null,
"cds_length": 4380,
"cds_start": 3208,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000861340.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3208G>C",
"hgvs_p": "p.Ala1070Pro",
"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": "P",
"aa_end": null,
"aa_length": 1452,
"aa_ref": "A",
"aa_start": 1063,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4732,
"cdna_start": 3305,
"cds_end": null,
"cds_length": 4359,
"cds_start": 3187,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000861338.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3187G>C",
"hgvs_p": "p.Ala1063Pro",
"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": "P",
"aa_end": null,
"aa_length": 1446,
"aa_ref": "A",
"aa_start": 1057,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4714,
"cdna_start": 3287,
"cds_end": null,
"cds_length": 4341,
"cds_start": 3169,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000861336.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3169G>C",
"hgvs_p": "p.Ala1057Pro",
"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": "P",
"aa_end": null,
"aa_length": 1446,
"aa_ref": "A",
"aa_start": 1057,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4710,
"cdna_start": 3287,
"cds_end": null,
"cds_length": 4341,
"cds_start": 3169,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000861342.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3169G>C",
"hgvs_p": "p.Ala1057Pro",
"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": "P",
"aa_end": null,
"aa_length": 1431,
"aa_ref": "A",
"aa_start": 1042,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4687,
"cdna_start": 3241,
"cds_end": null,
"cds_length": 4296,
"cds_start": 3124,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000919350.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3124G>C",
"hgvs_p": "p.Ala1042Pro",
"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": "P",
"aa_end": null,
"aa_length": 1428,
"aa_ref": "A",
"aa_start": 1039,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4656,
"cdna_start": 3233,
"cds_end": null,
"cds_length": 4287,
"cds_start": 3115,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000861343.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3115G>C",
"hgvs_p": "p.Ala1039Pro",
"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": "P",
"aa_end": null,
"aa_length": 1422,
"aa_ref": "A",
"aa_start": 1033,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4642,
"cdna_start": 3215,
"cds_end": null,
"cds_length": 4269,
"cds_start": 3097,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000861337.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3097G>C",
"hgvs_p": "p.Ala1033Pro",
"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": "P",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "A",
"aa_start": 1030,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 3204,
"cds_end": null,
"cds_length": 4260,
"cds_start": 3088,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000861344.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3088G>C",
"hgvs_p": "p.Ala1030Pro",
"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": "P",
"aa_end": null,
"aa_length": 1203,
"aa_ref": "A",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 2558,
"cds_end": null,
"cds_length": 3612,
"cds_start": 2440,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000861341.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2440G>C",
"hgvs_p": "p.Ala814Pro",
"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": "P",
"aa_end": null,
"aa_length": 1071,
"aa_ref": "A",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3589,
"cdna_start": 2162,
"cds_end": null,
"cds_length": 3216,
"cds_start": 2044,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000861335.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2044G>C",
"hgvs_p": "p.Ala682Pro",
"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": "P",
"aa_end": null,
"aa_length": 921,
"aa_ref": "A",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3106,
"cdna_start": 1708,
"cds_end": null,
"cds_length": 2766,
"cds_start": 1594,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000963828.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.1594G>C",
"hgvs_p": "p.Ala532Pro",
"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": "P",
"aa_end": null,
"aa_length": 1398,
"aa_ref": "A",
"aa_start": 1009,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5716,
"cdna_start": 3143,
"cds_end": null,
"cds_length": 4197,
"cds_start": 3025,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "XM_011524341.2",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.3025G>C",
"hgvs_p": "p.Ala1009Pro",
"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": "P",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "A",
"aa_start": 985,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5644,
"cdna_start": 3071,
"cds_end": null,
"cds_length": 4125,
"cds_start": 2953,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_005257058.5",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2953G>C",
"hgvs_p": "p.Ala985Pro",
"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": "P",
"aa_end": null,
"aa_length": 1158,
"aa_ref": "A",
"aa_start": 769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4996,
"cdna_start": 2423,
"cds_end": null,
"cds_length": 3477,
"cds_start": 2305,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_005257059.5",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.2305G>C",
"hgvs_p": "p.Ala769Pro",
"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": 930,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": null,
"cds_end": null,
"cds_length": 2793,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861333.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "c.1822-1012G>C",
"hgvs_p": null,
"intron_rank": 26,
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 836,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000486572.1",
"gene_hgnc_id": 2197,
"gene_symbol": "COL1A1",
"hgvs_c": "n.421G>C",
"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": "ENST00000486572.1",
"transcript_support_level": 3
},
{
"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": 789,
"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": "ENST00000511732.1",
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}
],
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}
]
}