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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: 10-46033540-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=46033540&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 46033540,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002443.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMB",
"gene_hgnc_id": 7372,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Pro76Leu",
"transcript": "NM_002443.4",
"protein_id": "NP_002434.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 114,
"cds_start": 227,
"cds_end": null,
"cds_length": 345,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 486,
"mane_select": "ENST00000582163.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMB",
"gene_hgnc_id": 7372,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Pro76Leu",
"transcript": "ENST00000582163.3",
"protein_id": "ENSP00000463092.1",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 114,
"cds_start": 227,
"cds_end": null,
"cds_length": 345,
"cdna_start": 259,
"cdna_end": null,
"cdna_length": 486,
"mane_select": "NM_002443.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMB",
"gene_hgnc_id": 7372,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Leu",
"transcript": "ENST00000581478.5",
"protein_id": "ENSP00000462641.1",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 77,
"cds_start": 121,
"cds_end": null,
"cds_length": 234,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMB",
"gene_hgnc_id": 7372,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Leu82Leu",
"transcript": "ENST00000663171.1",
"protein_id": "ENSP00000499419.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 118,
"cds_start": 244,
"cds_end": null,
"cds_length": 357,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSMB",
"gene_hgnc_id": 7372,
"hgvs_c": "c.121C>T",
"hgvs_p": "p.Leu41Leu",
"transcript": "NM_138634.3",
"protein_id": "NP_619540.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 77,
"cds_start": 121,
"cds_end": null,
"cds_length": 234,
"cdna_start": 153,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305167",
"gene_hgnc_id": null,
"hgvs_c": "n.345+756G>A",
"hgvs_p": null,
"transcript": "ENST00000809226.1",
"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": 802,
"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": "ENSG00000305167",
"gene_hgnc_id": null,
"hgvs_c": "n.148-1853G>A",
"hgvs_p": null,
"transcript": "ENST00000809227.1",
"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": 604,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105378287",
"gene_hgnc_id": null,
"hgvs_c": "n.289+756G>A",
"hgvs_p": null,
"transcript": "XR_945923.4",
"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": 746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MSMB",
"gene_hgnc_id": 7372,
"dbsnp": null,
"frequency_reference_population": 0.0000027373223,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273732,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2730432152748108,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.63,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.593,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002443.4",
"gene_symbol": "MSMB",
"hgnc_id": 7372,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Pro76Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000809226.1",
"gene_symbol": "ENSG00000305167",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.345+756G>A",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XR_945923.4",
"gene_symbol": "LOC105378287",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.289+756G>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
}