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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: 18-12978861-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=12978861&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 12978861,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000399892.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Asp244Tyr",
"transcript": "NM_001013437.2",
"protein_id": "NP_001013455.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 421,
"cds_start": 730,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": "ENST00000399892.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Asp244Tyr",
"transcript": "ENST00000399892.7",
"protein_id": "ENSP00000382779.1",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 421,
"cds_start": 730,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": "NM_001013437.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Asp244Tyr",
"transcript": "ENST00000262124.15",
"protein_id": "ENSP00000262124.10",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 360,
"cds_start": 730,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "n.2574G>T",
"hgvs_p": null,
"transcript": "ENST00000590843.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "n.3253G>T",
"hgvs_p": null,
"transcript": "ENST00000592582.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Asp244Tyr",
"transcript": "NM_031216.4",
"protein_id": "NP_112493.2",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 360,
"cds_start": 730,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 3478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Asp264Tyr",
"transcript": "XM_011525742.4",
"protein_id": "XP_011524044.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 441,
"cds_start": 790,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.643G>T",
"hgvs_p": "p.Asp215Tyr",
"transcript": "XM_011525743.3",
"protein_id": "XP_011524045.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 392,
"cds_start": 643,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Asp264Tyr",
"transcript": "XM_011525744.2",
"protein_id": "XP_011524046.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 380,
"cds_start": 790,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.583G>T",
"hgvs_p": "p.Asp195Tyr",
"transcript": "XM_005258152.5",
"protein_id": "XP_005258209.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 372,
"cds_start": 583,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.583G>T",
"hgvs_p": "p.Asp195Tyr",
"transcript": "XM_017026025.2",
"protein_id": "XP_016881514.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 311,
"cds_start": 583,
"cds_end": null,
"cds_length": 936,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "n.33G>T",
"hgvs_p": null,
"transcript": "ENST00000590032.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "n.1051G>T",
"hgvs_p": null,
"transcript": "XR_007066232.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "n.991G>T",
"hgvs_p": null,
"transcript": "XR_007066233.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"hgvs_c": "c.*1G>T",
"hgvs_p": null,
"transcript": "ENST00000587761.1",
"protein_id": "ENSP00000466234.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": -4,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SEH1L",
"gene_hgnc_id": 30379,
"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": 0.9637621641159058,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.823,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.952,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.576,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000399892.7",
"gene_symbol": "SEH1L",
"hgnc_id": 30379,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Asp244Tyr"
}
],
"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
}