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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: 13-31317609-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=31317609&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 31317609,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_194318.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Glu370Lys",
"transcript": "NM_194318.4",
"protein_id": "NP_919299.3",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 498,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343307.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194318.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Glu370Lys",
"transcript": "ENST00000343307.5",
"protein_id": "ENSP00000343002.4",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 498,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_194318.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343307.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Glu307Lys",
"transcript": "ENST00000873566.1",
"protein_id": "ENSP00000543625.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 435,
"cds_start": 919,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873566.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Glu257Lys",
"transcript": "ENST00000946543.1",
"protein_id": "ENSP00000616602.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 385,
"cds_start": 769,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946543.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "XM_006719768.4",
"protein_id": "XP_006719831.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 479,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719768.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Glu321Lys",
"transcript": "XM_011534938.3",
"protein_id": "XP_011533240.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 449,
"cds_start": 961,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534938.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Glu321Lys",
"transcript": "XM_047430110.1",
"protein_id": "XP_047286066.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 449,
"cds_start": 961,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430110.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"hgvs_c": "c.1065-6142G>A",
"hgvs_p": null,
"transcript": "XM_011534936.2",
"protein_id": "XP_011533238.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": null,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534936.2"
}
],
"gene_symbol": "B3GLCT",
"gene_hgnc_id": 20207,
"dbsnp": "rs1041073",
"frequency_reference_population": 0.7479652,
"hom_count_reference_population": 456734,
"allele_count_reference_population": 1206975,
"gnomad_exomes_af": 0.755996,
"gnomad_genomes_af": 0.670737,
"gnomad_exomes_ac": 1105023,
"gnomad_genomes_ac": 101952,
"gnomad_exomes_homalt": 420551,
"gnomad_genomes_homalt": 36183,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000021693078906537266,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.289,
"revel_prediction": "Benign",
"alphamissense_score": 0.0926,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.168,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_194318.4",
"gene_symbol": "B3GLCT",
"hgnc_id": 20207,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Glu370Lys"
}
],
"clinvar_disease": "Peters plus syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Peters plus syndrome|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}