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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: 17-50186357-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50186357&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50186357,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000088.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3965G>C",
"hgvs_p": "p.Arg1322Thr",
"transcript": "NM_000088.4",
"protein_id": "NP_000079.2",
"transcript_support_level": null,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3965,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000225964.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000088.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3965G>C",
"hgvs_p": "p.Arg1322Thr",
"transcript": "ENST00000225964.10",
"protein_id": "ENSP00000225964.6",
"transcript_support_level": 1,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3965,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000088.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225964.10"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3962G>C",
"hgvs_p": "p.Arg1321Thr",
"transcript": "ENST00000861334.1",
"protein_id": "ENSP00000531393.1",
"transcript_support_level": null,
"aa_start": 1321,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3962,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861334.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3962G>C",
"hgvs_p": "p.Arg1321Thr",
"transcript": "ENST00000861339.1",
"protein_id": "ENSP00000531398.1",
"transcript_support_level": null,
"aa_start": 1321,
"aa_end": null,
"aa_length": 1463,
"cds_start": 3962,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861339.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3950G>C",
"hgvs_p": "p.Arg1317Thr",
"transcript": "ENST00000861340.1",
"protein_id": "ENSP00000531399.1",
"transcript_support_level": null,
"aa_start": 1317,
"aa_end": null,
"aa_length": 1459,
"cds_start": 3950,
"cds_end": null,
"cds_length": 4380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861340.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3929G>C",
"hgvs_p": "p.Arg1310Thr",
"transcript": "ENST00000861338.1",
"protein_id": "ENSP00000531397.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1452,
"cds_start": 3929,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861338.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3911G>C",
"hgvs_p": "p.Arg1304Thr",
"transcript": "ENST00000861336.1",
"protein_id": "ENSP00000531395.1",
"transcript_support_level": null,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1446,
"cds_start": 3911,
"cds_end": null,
"cds_length": 4341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861336.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3911G>C",
"hgvs_p": "p.Arg1304Thr",
"transcript": "ENST00000861342.1",
"protein_id": "ENSP00000531401.1",
"transcript_support_level": null,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1446,
"cds_start": 3911,
"cds_end": null,
"cds_length": 4341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861342.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3866G>C",
"hgvs_p": "p.Arg1289Thr",
"transcript": "ENST00000919350.1",
"protein_id": "ENSP00000589409.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 1431,
"cds_start": 3866,
"cds_end": null,
"cds_length": 4296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919350.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3857G>C",
"hgvs_p": "p.Arg1286Thr",
"transcript": "ENST00000861343.1",
"protein_id": "ENSP00000531402.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1428,
"cds_start": 3857,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861343.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3839G>C",
"hgvs_p": "p.Arg1280Thr",
"transcript": "ENST00000861337.1",
"protein_id": "ENSP00000531396.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 1422,
"cds_start": 3839,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861337.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3830G>C",
"hgvs_p": "p.Arg1277Thr",
"transcript": "ENST00000861344.1",
"protein_id": "ENSP00000531403.1",
"transcript_support_level": null,
"aa_start": 1277,
"aa_end": null,
"aa_length": 1419,
"cds_start": 3830,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861344.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3182G>C",
"hgvs_p": "p.Arg1061Thr",
"transcript": "ENST00000861341.1",
"protein_id": "ENSP00000531400.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3182,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861341.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2786G>C",
"hgvs_p": "p.Arg929Thr",
"transcript": "ENST00000861335.1",
"protein_id": "ENSP00000531394.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1071,
"cds_start": 2786,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861335.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2363G>C",
"hgvs_p": "p.Arg788Thr",
"transcript": "ENST00000861333.1",
"protein_id": "ENSP00000531392.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 930,
"cds_start": 2363,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861333.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.2336G>C",
"hgvs_p": "p.Arg779Thr",
"transcript": "ENST00000963828.1",
"protein_id": "ENSP00000633887.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 921,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963828.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3767G>C",
"hgvs_p": "p.Arg1256Thr",
"transcript": "XM_011524341.2",
"protein_id": "XP_011522643.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1398,
"cds_start": 3767,
"cds_end": null,
"cds_length": 4197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524341.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3695G>C",
"hgvs_p": "p.Arg1232Thr",
"transcript": "XM_005257058.5",
"protein_id": "XP_005257115.2",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3695,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257058.5"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"hgvs_c": "c.3047G>C",
"hgvs_p": "p.Arg1016Thr",
"transcript": "XM_005257059.5",
"protein_id": "XP_005257116.2",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3047,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257059.5"
},
{
"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.634G>C",
"hgvs_p": null,
"transcript": "ENST00000510710.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000510710.3"
}
],
"gene_symbol": "COL1A1",
"gene_hgnc_id": 2197,
"dbsnp": "rs138544681",
"frequency_reference_population": 6.840441e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84044e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33311909437179565,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.163,
"revel_prediction": "Benign",
"alphamissense_score": 0.5329,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.104,
"phylop100way_prediction": "Benign",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP2,BP4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 1,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000088.4",
"gene_symbol": "COL1A1",
"hgnc_id": 2197,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3965G>C",
"hgvs_p": "p.Arg1322Thr"
}
],
"clinvar_disease": "Osteogenesis imperfecta type I",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Osteogenesis imperfecta type I",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}