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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: X-43795782-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=43795782&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 43795782,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000898.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOB",
"gene_hgnc_id": 6834,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"transcript": "NM_000898.5",
"protein_id": "NP_000889.3",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 520,
"cds_start": 725,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378069.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000898.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOB",
"gene_hgnc_id": 6834,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"transcript": "ENST00000378069.5",
"protein_id": "ENSP00000367309.4",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 520,
"cds_start": 725,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000898.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378069.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOB",
"gene_hgnc_id": 6834,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"transcript": "ENST00000890313.1",
"protein_id": "ENSP00000560372.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 555,
"cds_start": 725,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890313.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOB",
"gene_hgnc_id": 6834,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"transcript": "ENST00000890309.1",
"protein_id": "ENSP00000560368.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 526,
"cds_start": 725,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890309.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOB",
"gene_hgnc_id": 6834,
"hgvs_c": "c.722G>A",
"hgvs_p": "p.Arg241Lys",
"transcript": "ENST00000890307.1",
"protein_id": "ENSP00000560366.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 519,
"cds_start": 722,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890307.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOB",
"gene_hgnc_id": 6834,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"transcript": "ENST00000890310.1",
"protein_id": "ENSP00000560369.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 519,
"cds_start": 725,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890310.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOB",
"gene_hgnc_id": 6834,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239Lys",
"transcript": "ENST00000890312.1",
"protein_id": "ENSP00000560371.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 517,
"cds_start": 716,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890312.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOB",
"gene_hgnc_id": 6834,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"transcript": "ENST00000962443.1",
"protein_id": "ENSP00000632502.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 509,
"cds_start": 725,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962443.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOB",
"gene_hgnc_id": 6834,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196Lys",
"transcript": "ENST00000962442.1",
"protein_id": "ENSP00000632501.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 498,
"cds_start": 587,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962442.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOB",
"gene_hgnc_id": 6834,
"hgvs_c": "c.620G>A",
"hgvs_p": "p.Arg207Lys",
"transcript": "ENST00000890308.1",
"protein_id": "ENSP00000560367.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 485,
"cds_start": 620,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890308.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOB",
"gene_hgnc_id": 6834,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196Lys",
"transcript": "ENST00000962441.1",
"protein_id": "ENSP00000632500.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 480,
"cds_start": 587,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962441.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOB",
"gene_hgnc_id": 6834,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196Lys",
"transcript": "ENST00000890306.1",
"protein_id": "ENSP00000560365.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 474,
"cds_start": 587,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890306.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOB",
"gene_hgnc_id": 6834,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"transcript": "ENST00000890311.1",
"protein_id": "ENSP00000560370.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 450,
"cds_start": 725,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890311.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOB",
"gene_hgnc_id": 6834,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161Lys",
"transcript": "ENST00000962440.1",
"protein_id": "ENSP00000632499.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 439,
"cds_start": 482,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962440.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAOB",
"gene_hgnc_id": 6834,
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Arg226Lys",
"transcript": "XM_017029524.3",
"protein_id": "XP_016885013.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 504,
"cds_start": 677,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029524.3"
}
],
"gene_symbol": "MAOB",
"gene_hgnc_id": 6834,
"dbsnp": "rs989269368",
"frequency_reference_population": 0.0000033084566,
"hom_count_reference_population": 2,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000027346,
"gnomad_genomes_af": 0.00000893088,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16487544775009155,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.0685,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.454,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_000898.5",
"gene_symbol": "MAOB",
"hgnc_id": 6834,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys"
}
],
"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
}