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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: 8-37939923-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=37939923&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 37939923,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000307599.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOT1L1",
"gene_hgnc_id": 28487,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Asp",
"transcript": "NM_152413.3",
"protein_id": "NP_689626.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 421,
"cds_start": 107,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 1373,
"mane_select": "ENST00000307599.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOT1L1",
"gene_hgnc_id": 28487,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Asp",
"transcript": "ENST00000307599.5",
"protein_id": "ENSP00000303077.4",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 421,
"cds_start": 107,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 1373,
"mane_select": "NM_152413.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285880",
"gene_hgnc_id": null,
"hgvs_c": "c.690-4708C>A",
"hgvs_p": null,
"transcript": "ENST00000647937.1",
"protein_id": "ENSP00000497740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": -4,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOT1L1",
"gene_hgnc_id": 28487,
"hgvs_c": "c.86C>A",
"hgvs_p": "p.Ala29Asp",
"transcript": "ENST00000524298.1",
"protein_id": "ENSP00000430453.1",
"transcript_support_level": 3,
"aa_start": 29,
"aa_end": null,
"aa_length": 167,
"cds_start": 86,
"cds_end": null,
"cds_length": 505,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOT1L1",
"gene_hgnc_id": 28487,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Asp",
"transcript": "XM_005273399.4",
"protein_id": "XP_005273456.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 420,
"cds_start": 107,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 1370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOT1L1",
"gene_hgnc_id": 28487,
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Asp",
"transcript": "XM_006716285.4",
"protein_id": "XP_006716348.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 390,
"cds_start": 107,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 1280,
"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": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOT1L1",
"gene_hgnc_id": 28487,
"hgvs_c": "n.202C>A",
"hgvs_p": null,
"transcript": "XR_949376.3",
"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": 1252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GOT1L1",
"gene_hgnc_id": 28487,
"dbsnp": "rs770422489",
"frequency_reference_population": 0.000021221074,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000212211,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6976662874221802,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.355,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4059,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.051,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000307599.5",
"gene_symbol": "GOT1L1",
"hgnc_id": 28487,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.107C>A",
"hgvs_p": "p.Ala36Asp"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000647937.1",
"gene_symbol": "ENSG00000285880",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.690-4708C>A",
"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
}