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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: 9-15962-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=15962&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 15962,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_182905.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "c.1142G>C",
"hgvs_p": "p.Arg381Pro",
"transcript": "NM_001378090.1",
"protein_id": "NP_001365019.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 465,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000696149.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378090.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "c.1142G>C",
"hgvs_p": "p.Arg381Pro",
"transcript": "ENST00000696149.1",
"protein_id": "ENSP00000512441.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 465,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378090.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696149.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "c.1142G>C",
"hgvs_p": "p.Arg381Pro",
"transcript": "NM_182905.6",
"protein_id": "NP_878908.4",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 465,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182905.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "c.1142G>C",
"hgvs_p": "p.Arg381Pro",
"transcript": "ENST00000442898.5",
"protein_id": "ENSP00000485627.1",
"transcript_support_level": 2,
"aa_start": 381,
"aa_end": null,
"aa_length": 465,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442898.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "c.1169G>C",
"hgvs_p": "p.Arg390Pro",
"transcript": "XM_011517659.3",
"protein_id": "XP_011515961.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 474,
"cds_start": 1169,
"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": "XM_011517659.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "c.1166G>C",
"hgvs_p": "p.Arg389Pro",
"transcript": "XM_011517660.3",
"protein_id": "XP_011515962.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 473,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517660.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "c.1142G>C",
"hgvs_p": "p.Arg381Pro",
"transcript": "XM_024447369.2",
"protein_id": "XP_024303137.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 465,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447369.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "c.1142G>C",
"hgvs_p": "p.Arg381Pro",
"transcript": "XM_047422579.1",
"protein_id": "XP_047278535.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 465,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422579.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Arg380Pro",
"transcript": "XM_011517662.4",
"protein_id": "XP_011515964.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 464,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517662.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "c.1103G>C",
"hgvs_p": "p.Arg368Pro",
"transcript": "XM_017014169.2",
"protein_id": "XP_016869658.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 452,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014169.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "c.1100G>C",
"hgvs_p": "p.Arg367Pro",
"transcript": "XM_011517664.4",
"protein_id": "XP_011515966.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 451,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517664.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "XM_011517665.3",
"protein_id": "XP_011515967.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 441,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517665.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "c.1067G>C",
"hgvs_p": "p.Arg356Pro",
"transcript": "XM_011517666.3",
"protein_id": "XP_011515968.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 440,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517666.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "c.851G>C",
"hgvs_p": "p.Arg284Pro",
"transcript": "XM_017014171.2",
"protein_id": "XP_016869660.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 368,
"cds_start": 851,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014171.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "c.851G>C",
"hgvs_p": "p.Arg284Pro",
"transcript": "XM_017014172.2",
"protein_id": "XP_016869661.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 368,
"cds_start": 851,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014172.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "c.851G>C",
"hgvs_p": "p.Arg284Pro",
"transcript": "XM_047422581.1",
"protein_id": "XP_047278537.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 368,
"cds_start": 851,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422581.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"hgvs_c": "n.1406G>C",
"hgvs_p": null,
"transcript": "ENST00000696150.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000696150.1"
}
],
"gene_symbol": "WASHC1",
"gene_hgnc_id": 24361,
"dbsnp": "rs775786649",
"frequency_reference_population": 0.000014679977,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000525903,
"gnomad_genomes_af": 0.00001468,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9008276462554932,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.2177,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.889,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_182905.6",
"gene_symbol": "WASHC1",
"hgnc_id": 24361,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1142G>C",
"hgvs_p": "p.Arg381Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}