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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: 12-39830176-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=39830176&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 39830176,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_052885.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.1372A>G",
"hgvs_p": "p.Asn458Asp",
"transcript": "NM_052885.4",
"protein_id": "NP_443117.3",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 648,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 7221,
"mane_select": "ENST00000280871.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.1372A>G",
"hgvs_p": "p.Asn458Asp",
"transcript": "ENST00000280871.9",
"protein_id": "ENSP00000280871.4",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 648,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 7221,
"mane_select": "NM_052885.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "REDIC1",
"gene_hgnc_id": 26846,
"hgvs_c": "n.*998+27794T>C",
"hgvs_p": null,
"transcript": "ENST00000468200.2",
"protein_id": "ENSP00000473371.1",
"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": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.805A>G",
"hgvs_p": "p.Asn269Asp",
"transcript": "XM_017018764.2",
"protein_id": "XP_016874253.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 459,
"cds_start": 805,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 6472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.805A>G",
"hgvs_p": "p.Asn269Asp",
"transcript": "XM_017018765.2",
"protein_id": "XP_016874254.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 459,
"cds_start": 805,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 7114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.652A>G",
"hgvs_p": "p.Asn218Asp",
"transcript": "XM_017018766.2",
"protein_id": "XP_016874255.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 408,
"cds_start": 652,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 6279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "n.258A>G",
"hgvs_p": null,
"transcript": "ENST00000465517.1",
"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": 1026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "n.385A>G",
"hgvs_p": null,
"transcript": "ENST00000505338.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293975",
"gene_hgnc_id": null,
"hgvs_c": "n.28-11T>C",
"hgvs_p": null,
"transcript": "ENST00000720295.1",
"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": 380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "REDIC1",
"gene_hgnc_id": 26846,
"hgvs_c": "n.2429+27794T>C",
"hgvs_p": null,
"transcript": "NR_135051.2",
"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": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.1319+34586A>G",
"hgvs_p": null,
"transcript": "XM_011537847.3",
"protein_id": "XP_011536149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"hgvs_c": "c.1519+105A>G",
"hgvs_p": null,
"transcript": "XM_047428235.1",
"protein_id": "XP_047284191.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 555,
"cds_start": -4,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC2A13",
"gene_hgnc_id": 15956,
"dbsnp": "rs1010246332",
"frequency_reference_population": 0.000017352375,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000177907,
"gnomad_genomes_af": 0.0000131427,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3873612880706787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.28,
"revel_prediction": "Benign",
"alphamissense_score": 0.0931,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.311,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_052885.4",
"gene_symbol": "SLC2A13",
"hgnc_id": 15956,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1372A>G",
"hgvs_p": "p.Asn458Asp"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000468200.2",
"gene_symbol": "REDIC1",
"hgnc_id": 26846,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*998+27794T>C",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000720295.1",
"gene_symbol": "ENSG00000293975",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.28-11T>C",
"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
}