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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: 2-119440195-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=119440195&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 119440195,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_002980.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1245C>A",
"hgvs_p": "p.Pro415Pro",
"transcript": "NM_002980.3",
"protein_id": "NP_002971.2",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 440,
"cds_start": 1245,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": "ENST00000019103.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002980.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1245C>A",
"hgvs_p": "p.Pro415Pro",
"transcript": "ENST00000019103.8",
"protein_id": "ENSP00000019103.6",
"transcript_support_level": 1,
"aa_start": 415,
"aa_end": null,
"aa_length": 440,
"cds_start": 1245,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": "NM_002980.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000019103.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1440C>A",
"hgvs_p": "p.Pro480Pro",
"transcript": "ENST00000903274.1",
"protein_id": "ENSP00000573333.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 505,
"cds_start": 1440,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903274.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1260C>A",
"hgvs_p": "p.Pro420Pro",
"transcript": "ENST00000903275.1",
"protein_id": "ENSP00000573334.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 445,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903275.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1254C>A",
"hgvs_p": "p.Pro418Pro",
"transcript": "ENST00000971075.1",
"protein_id": "ENSP00000641134.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 443,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 1766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971075.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1239C>A",
"hgvs_p": "p.Pro413Pro",
"transcript": "ENST00000903273.1",
"protein_id": "ENSP00000573332.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 438,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903273.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1137C>A",
"hgvs_p": "p.Pro379Pro",
"transcript": "ENST00000971074.1",
"protein_id": "ENSP00000641133.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 404,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971074.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1083C>A",
"hgvs_p": "p.Pro361Pro",
"transcript": "ENST00000971073.1",
"protein_id": "ENSP00000641132.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 386,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971073.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1026C>A",
"hgvs_p": "p.Pro342Pro",
"transcript": "ENST00000903276.1",
"protein_id": "ENSP00000573335.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 367,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903276.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "c.1260C>A",
"hgvs_p": "p.Pro420Pro",
"transcript": "XM_011511621.3",
"protein_id": "XP_011509923.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 445,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511621.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "n.1925C>A",
"hgvs_p": null,
"transcript": "ENST00000485440.1",
"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": 2275,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000485440.1"
},
{
"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": "SCTR",
"gene_hgnc_id": 10608,
"hgvs_c": "n.169C>A",
"hgvs_p": null,
"transcript": "ENST00000494326.5",
"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": 519,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494326.5"
}
],
"gene_symbol": "SCTR",
"gene_hgnc_id": 10608,
"dbsnp": "rs75716989",
"frequency_reference_population": 6.8414425e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84144e-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": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.793,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_002980.3",
"gene_symbol": "SCTR",
"hgnc_id": 10608,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1245C>A",
"hgvs_p": "p.Pro415Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}