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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: 10-133555414-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=133555414&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 133555414,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001143764.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.855T>A",
"hgvs_p": "p.His285Gln",
"transcript": "NM_001143764.3",
"protein_id": "NP_001137236.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 351,
"cds_start": 855,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343131.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143764.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.855T>A",
"hgvs_p": "p.His285Gln",
"transcript": "ENST00000343131.7",
"protein_id": "ENSP00000341282.5",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 351,
"cds_start": 855,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001143764.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343131.7"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.855T>A",
"hgvs_p": "p.His285Gln",
"transcript": "ENST00000303903.10",
"protein_id": "ENSP00000303978.5",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 318,
"cds_start": 855,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303903.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2E1",
"gene_hgnc_id": 2631,
"hgvs_c": "n.2112A>T",
"hgvs_p": null,
"transcript": "ENST00000368520.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000368520.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.954T>A",
"hgvs_p": "p.His318Gln",
"transcript": "ENST00000863039.1",
"protein_id": "ENSP00000533098.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 384,
"cds_start": 954,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863039.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.858T>A",
"hgvs_p": "p.His286Gln",
"transcript": "ENST00000863036.1",
"protein_id": "ENSP00000533095.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 352,
"cds_start": 858,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863036.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.792T>A",
"hgvs_p": "p.His264Gln",
"transcript": "ENST00000863038.1",
"protein_id": "ENSP00000533097.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 330,
"cds_start": 792,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863038.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.768T>A",
"hgvs_p": "p.His256Gln",
"transcript": "ENST00000863035.1",
"protein_id": "ENSP00000533094.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 322,
"cds_start": 768,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863035.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.765T>A",
"hgvs_p": "p.His255Gln",
"transcript": "ENST00000863037.1",
"protein_id": "ENSP00000533096.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 321,
"cds_start": 765,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863037.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.855T>A",
"hgvs_p": "p.His285Gln",
"transcript": "NM_001143763.2",
"protein_id": "NP_001137235.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 318,
"cds_start": 855,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143763.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.747T>A",
"hgvs_p": "p.His249Gln",
"transcript": "NM_130784.4",
"protein_id": "NP_570140.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 282,
"cds_start": 747,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130784.4"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "c.747T>A",
"hgvs_p": "p.His249Gln",
"transcript": "ENST00000368517.7",
"protein_id": "ENSP00000357503.3",
"transcript_support_level": 5,
"aa_start": 249,
"aa_end": null,
"aa_length": 282,
"cds_start": 747,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368517.7"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"hgvs_c": "n.1988T>A",
"hgvs_p": null,
"transcript": "ENST00000479535.2",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000479535.2"
}
],
"gene_symbol": "SYCE1",
"gene_hgnc_id": 28852,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.051674485206604004,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.008,
"revel_prediction": "Benign",
"alphamissense_score": 0.1203,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.138,
"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_001143764.3",
"gene_symbol": "SYCE1",
"hgnc_id": 28852,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.855T>A",
"hgvs_p": "p.His285Gln"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000368520.1",
"gene_symbol": "CYP2E1",
"hgnc_id": 2631,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.2112A>T",
"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
}