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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: 17-1745208-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=1745208&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 1745208,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000453066.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Arg33Gly",
"transcript": "NM_000934.4",
"protein_id": "NP_000925.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 491,
"cds_start": 97,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": "ENST00000453066.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Arg33Gly",
"transcript": "ENST00000453066.6",
"protein_id": "ENSP00000402286.2",
"transcript_support_level": 5,
"aa_start": 33,
"aa_end": null,
"aa_length": 491,
"cds_start": 97,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": "NM_000934.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Arg33Gly",
"transcript": "ENST00000382061.5",
"protein_id": "ENSP00000371493.4",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 491,
"cds_start": 97,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 152,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Arg33Gly",
"transcript": "NM_001165920.1",
"protein_id": "NP_001159392.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 491,
"cds_start": 97,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 152,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Arg33Gly",
"transcript": "ENST00000324015.7",
"protein_id": "ENSP00000321853.3",
"transcript_support_level": 5,
"aa_start": 33,
"aa_end": null,
"aa_length": 491,
"cds_start": 97,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 174,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Arg33Gly",
"transcript": "NM_001165921.2",
"protein_id": "NP_001159393.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 427,
"cds_start": 97,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Arg33Gly",
"transcript": "ENST00000450523.6",
"protein_id": "ENSP00000403877.2",
"transcript_support_level": 2,
"aa_start": 33,
"aa_end": null,
"aa_length": 427,
"cds_start": 97,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 1462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Arg33Gly",
"transcript": "ENST00000453723.5",
"protein_id": "ENSP00000402056.1",
"transcript_support_level": 3,
"aa_start": 33,
"aa_end": null,
"aa_length": 263,
"cds_start": 97,
"cds_end": null,
"cds_length": 794,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.145C>G",
"hgvs_p": "p.Arg49Gly",
"transcript": "XM_005256701.5",
"protein_id": "XP_005256758.2",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 507,
"cds_start": 145,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "XM_017024765.2",
"protein_id": "XP_016880254.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 495,
"cds_start": 109,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "XM_047436303.1",
"protein_id": "XP_047292259.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 495,
"cds_start": 109,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 2327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SERPINF2",
"gene_hgnc_id": 9075,
"dbsnp": "rs2070863",
"frequency_reference_population": 7.0748075e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.07481e-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": 0.07759317755699158,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.297,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0681,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.79,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.16,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000453066.6",
"gene_symbol": "SERPINF2",
"hgnc_id": 9075,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.97C>G",
"hgvs_p": "p.Arg33Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}