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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: 20-59868547-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=59868547&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 59868547,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014258.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP2",
"gene_hgnc_id": 11490,
"hgvs_c": "c.3854G>C",
"hgvs_p": "p.Arg1285Pro",
"transcript": "NM_014258.4",
"protein_id": "NP_055073.2",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1530,
"cds_start": 3854,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357552.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014258.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP2",
"gene_hgnc_id": 11490,
"hgvs_c": "c.3854G>C",
"hgvs_p": "p.Arg1285Pro",
"transcript": "ENST00000357552.8",
"protein_id": "ENSP00000350162.2",
"transcript_support_level": 1,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1530,
"cds_start": 3854,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014258.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357552.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP2",
"gene_hgnc_id": 11490,
"hgvs_c": "c.3854G>C",
"hgvs_p": "p.Arg1285Pro",
"transcript": "ENST00000371001.6",
"protein_id": "ENSP00000360040.2",
"transcript_support_level": 1,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1530,
"cds_start": 3854,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371001.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP2",
"gene_hgnc_id": 11490,
"hgvs_c": "c.3875G>C",
"hgvs_p": "p.Arg1292Pro",
"transcript": "XM_011528487.4",
"protein_id": "XP_011526789.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1537,
"cds_start": 3875,
"cds_end": null,
"cds_length": 4614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528487.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP2",
"gene_hgnc_id": 11490,
"hgvs_c": "c.3875G>C",
"hgvs_p": "p.Arg1292Pro",
"transcript": "XM_011528488.3",
"protein_id": "XP_011526790.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1537,
"cds_start": 3875,
"cds_end": null,
"cds_length": 4614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528488.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP2",
"gene_hgnc_id": 11490,
"hgvs_c": "c.3875G>C",
"hgvs_p": "p.Arg1292Pro",
"transcript": "XM_017027586.2",
"protein_id": "XP_016883075.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1537,
"cds_start": 3875,
"cds_end": null,
"cds_length": 4614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027586.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP2",
"gene_hgnc_id": 11490,
"hgvs_c": "c.3872G>C",
"hgvs_p": "p.Arg1291Pro",
"transcript": "XM_017027587.2",
"protein_id": "XP_016883076.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1536,
"cds_start": 3872,
"cds_end": null,
"cds_length": 4611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027587.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP2",
"gene_hgnc_id": 11490,
"hgvs_c": "c.3854G>C",
"hgvs_p": "p.Arg1285Pro",
"transcript": "XM_011528489.3",
"protein_id": "XP_011526791.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1530,
"cds_start": 3854,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528489.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP2",
"gene_hgnc_id": 11490,
"hgvs_c": "c.3854G>C",
"hgvs_p": "p.Arg1285Pro",
"transcript": "XM_047439825.1",
"protein_id": "XP_047295781.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1530,
"cds_start": 3854,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439825.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP2",
"gene_hgnc_id": 11490,
"hgvs_c": "c.3851G>C",
"hgvs_p": "p.Arg1284Pro",
"transcript": "XM_011528490.4",
"protein_id": "XP_011526792.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1529,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528490.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP2",
"gene_hgnc_id": 11490,
"hgvs_c": "c.3704G>C",
"hgvs_p": "p.Arg1235Pro",
"transcript": "XM_047439827.1",
"protein_id": "XP_047295783.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1480,
"cds_start": 3704,
"cds_end": null,
"cds_length": 4443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439827.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYCP2",
"gene_hgnc_id": 11490,
"hgvs_c": "c.3359G>C",
"hgvs_p": "p.Arg1120Pro",
"transcript": "XM_047439829.1",
"protein_id": "XP_047295785.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3359,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439829.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYCP2",
"gene_hgnc_id": 11490,
"hgvs_c": "c.46+288G>C",
"hgvs_p": null,
"transcript": "ENST00000412613.1",
"protein_id": "ENSP00000404358.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": null,
"cds_end": null,
"cds_length": 625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412613.1"
},
{
"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": 44,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "SYCP2",
"gene_hgnc_id": 11490,
"hgvs_c": "c.3853+288G>C",
"hgvs_p": null,
"transcript": "XM_047439826.1",
"protein_id": "XP_047295782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1485,
"cds_start": null,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439826.1"
},
{
"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": 43,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "SYCP2",
"gene_hgnc_id": 11490,
"hgvs_c": "c.3682+288G>C",
"hgvs_p": null,
"transcript": "XM_047439828.1",
"protein_id": "XP_047295784.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": null,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439828.1"
}
],
"gene_symbol": "SYCP2",
"gene_hgnc_id": 11490,
"dbsnp": "rs148819194",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3011387586593628,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1899999976158142,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.2135,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.758,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.19,
"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": 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_014258.4",
"gene_symbol": "SYCP2",
"hgnc_id": 11490,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3854G>C",
"hgvs_p": "p.Arg1285Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}