← Back to variant description
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: 1-156646073-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156646073&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156646073,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_021948.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAN",
"gene_hgnc_id": 23059,
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Pro7Ser",
"transcript": "NM_021948.5",
"protein_id": "NP_068767.3",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 911,
"cds_start": 19,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000329117.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021948.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAN",
"gene_hgnc_id": 23059,
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Pro7Ser",
"transcript": "ENST00000329117.10",
"protein_id": "ENSP00000331210.4",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 911,
"cds_start": 19,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021948.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329117.10"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAN",
"gene_hgnc_id": 23059,
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Pro7Ser",
"transcript": "ENST00000361588.5",
"protein_id": "ENSP00000354925.5",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 671,
"cds_start": 19,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361588.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAN",
"gene_hgnc_id": 23059,
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Pro7Ser",
"transcript": "ENST00000884916.1",
"protein_id": "ENSP00000554975.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 922,
"cds_start": 19,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884916.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAN",
"gene_hgnc_id": 23059,
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Pro7Ser",
"transcript": "ENST00000884917.1",
"protein_id": "ENSP00000554976.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 918,
"cds_start": 19,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884917.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAN",
"gene_hgnc_id": 23059,
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Pro7Ser",
"transcript": "ENST00000884919.1",
"protein_id": "ENSP00000554978.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 911,
"cds_start": 19,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884919.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAN",
"gene_hgnc_id": 23059,
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Pro7Ser",
"transcript": "ENST00000916621.1",
"protein_id": "ENSP00000586680.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 888,
"cds_start": 19,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916621.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAN",
"gene_hgnc_id": 23059,
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Pro7Ser",
"transcript": "ENST00000884918.1",
"protein_id": "ENSP00000554977.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 822,
"cds_start": 19,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884918.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAN",
"gene_hgnc_id": 23059,
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Pro7Ser",
"transcript": "NM_198427.2",
"protein_id": "NP_940819.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 671,
"cds_start": 19,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198427.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAN",
"gene_hgnc_id": 23059,
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Pro7Ser",
"transcript": "ENST00000424639.5",
"protein_id": "ENSP00000401709.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 230,
"cds_start": 19,
"cds_end": null,
"cds_length": 694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424639.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAN",
"gene_hgnc_id": 23059,
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Pro7Ser",
"transcript": "ENST00000457777.6",
"protein_id": "ENSP00000389898.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 212,
"cds_start": 19,
"cds_end": null,
"cds_length": 641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457777.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAN",
"gene_hgnc_id": 23059,
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Pro7Ser",
"transcript": "ENST00000441358.5",
"protein_id": "ENSP00000392731.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 144,
"cds_start": 19,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441358.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAN",
"gene_hgnc_id": 23059,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Pro52Ser",
"transcript": "XM_017002047.2",
"protein_id": "XP_016857536.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 956,
"cds_start": 154,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002047.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAN",
"gene_hgnc_id": 23059,
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Pro7Ser",
"transcript": "XM_011509866.1",
"protein_id": "XP_011508168.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 911,
"cds_start": 19,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509866.1"
},
{
"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": "BCAN-AS2",
"gene_hgnc_id": 56267,
"hgvs_c": "n.1218G>A",
"hgvs_p": null,
"transcript": "ENST00000448869.2",
"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": "pseudogene",
"feature": "ENST00000448869.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAN",
"gene_hgnc_id": 23059,
"hgvs_c": "n.19C>T",
"hgvs_p": null,
"transcript": "ENST00000479949.5",
"protein_id": "ENSP00000476509.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000479949.5"
},
{
"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": "BCAN-AS2",
"gene_hgnc_id": 56267,
"hgvs_c": "n.1208G>A",
"hgvs_p": null,
"transcript": "NR_182279.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_182279.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCAN-AS2",
"gene_hgnc_id": 56267,
"hgvs_c": "n.272+949G>A",
"hgvs_p": null,
"transcript": "ENST00000848906.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000848906.1"
}
],
"gene_symbol": "BCAN",
"gene_hgnc_id": 23059,
"dbsnp": "rs781233776",
"frequency_reference_population": 0.000021693264,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000219003,
"gnomad_genomes_af": 0.000019706,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03606501221656799,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.0828,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.723,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_021948.5",
"gene_symbol": "BCAN",
"hgnc_id": 23059,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Pro7Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000448869.2",
"gene_symbol": "BCAN-AS2",
"hgnc_id": 56267,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1218G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}