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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: 17-50187486-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50187486&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50187486,
"ref": "G",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_000088.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3421C>A",
"hgvs_p": "p.Arg1141Arg",
"transcript": "NM_000088.4",
"protein_id": "NP_000079.2",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3421,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 3539,
"cdna_end": null,
"cdna_length": 5914,
"mane_select": "ENST00000225964.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000088.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3421C>A",
"hgvs_p": "p.Arg1141Arg",
"transcript": "ENST00000225964.10",
"protein_id": "ENSP00000225964.6",
"transcript_support_level": 1,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3421,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 3539,
"cdna_end": null,
"cdna_length": 5914,
"mane_select": "NM_000088.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225964.10"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3421C>A",
"hgvs_p": "p.Arg1141Arg",
"transcript": "ENST00000861334.1",
"protein_id": "ENSP00000531393.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3421,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3537,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861334.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3421C>A",
"hgvs_p": "p.Arg1141Arg",
"transcript": "ENST00000861339.1",
"protein_id": "ENSP00000531398.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3421,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 3539,
"cdna_end": null,
"cdna_length": 4765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861339.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3406C>A",
"hgvs_p": "p.Arg1136Arg",
"transcript": "ENST00000861340.1",
"protein_id": "ENSP00000531399.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1459,
"cds_start": 3406,
"cds_end": null,
"cds_length": 4380,
"cdna_start": 3527,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861340.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3385C>A",
"hgvs_p": "p.Arg1129Arg",
"transcript": "ENST00000861338.1",
"protein_id": "ENSP00000531397.1",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
"aa_length": 1452,
"cds_start": 3385,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 3503,
"cdna_end": null,
"cdna_length": 4732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861338.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3367C>A",
"hgvs_p": "p.Arg1123Arg",
"transcript": "ENST00000861336.1",
"protein_id": "ENSP00000531395.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1446,
"cds_start": 3367,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 3485,
"cdna_end": null,
"cdna_length": 4714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861336.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3367C>A",
"hgvs_p": "p.Arg1123Arg",
"transcript": "ENST00000861342.1",
"protein_id": "ENSP00000531401.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1446,
"cds_start": 3367,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 3485,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861342.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3322C>A",
"hgvs_p": "p.Arg1108Arg",
"transcript": "ENST00000919350.1",
"protein_id": "ENSP00000589409.1",
"transcript_support_level": null,
"aa_start": 1108,
"aa_end": null,
"aa_length": 1431,
"cds_start": 3322,
"cds_end": null,
"cds_length": 4296,
"cdna_start": 3439,
"cdna_end": null,
"cdna_length": 4687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919350.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3313C>A",
"hgvs_p": "p.Arg1105Arg",
"transcript": "ENST00000861343.1",
"protein_id": "ENSP00000531402.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1428,
"cds_start": 3313,
"cds_end": null,
"cds_length": 4287,
"cdna_start": 3431,
"cdna_end": null,
"cdna_length": 4656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861343.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3295C>A",
"hgvs_p": "p.Arg1099Arg",
"transcript": "ENST00000861337.1",
"protein_id": "ENSP00000531396.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1422,
"cds_start": 3295,
"cds_end": null,
"cds_length": 4269,
"cdna_start": 3413,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861337.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3286C>A",
"hgvs_p": "p.Arg1096Arg",
"transcript": "ENST00000861344.1",
"protein_id": "ENSP00000531403.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1419,
"cds_start": 3286,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 3402,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861344.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2638C>A",
"hgvs_p": "p.Arg880Arg",
"transcript": "ENST00000861341.1",
"protein_id": "ENSP00000531400.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1203,
"cds_start": 2638,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 2756,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861341.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2242C>A",
"hgvs_p": "p.Arg748Arg",
"transcript": "ENST00000861335.1",
"protein_id": "ENSP00000531394.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2242,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 2360,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861335.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.1792C>A",
"hgvs_p": "p.Arg598Arg",
"transcript": "ENST00000963828.1",
"protein_id": "ENSP00000633887.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 921,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963828.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3223C>A",
"hgvs_p": "p.Arg1075Arg",
"transcript": "XM_011524341.2",
"protein_id": "XP_011522643.1",
"transcript_support_level": null,
"aa_start": 1075,
"aa_end": null,
"aa_length": 1398,
"cds_start": 3223,
"cds_end": null,
"cds_length": 4197,
"cdna_start": 3341,
"cdna_end": null,
"cdna_length": 5716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524341.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3151C>A",
"hgvs_p": "p.Arg1051Arg",
"transcript": "XM_005257058.5",
"protein_id": "XP_005257115.2",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3151,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 3269,
"cdna_end": null,
"cdna_length": 5644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257058.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2503C>A",
"hgvs_p": "p.Arg835Arg",
"transcript": "XM_005257059.5",
"protein_id": "XP_005257116.2",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1158,
"cds_start": 2503,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 2621,
"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.1822-364C>A",
"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": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "n.*121C>A",
"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"
}
],
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"dbsnp": "rs72656314",
"frequency_reference_population": 0.0000020523346,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205233,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.1679999977350235,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.448,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0237886373352605,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000088.4",
"gene_symbol": "COL1A1",
"hgnc_id": 2197,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3421C>A",
"hgvs_p": "p.Arg1141Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}