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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: 5-113564033-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=113564033&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 113564033,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022828.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2617C>A",
"hgvs_p": "p.Pro873Thr",
"transcript": "NM_022828.5",
"protein_id": "NP_073739.3",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 1430,
"cds_start": 2617,
"cds_end": null,
"cds_length": 4293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000161863.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022828.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2617C>A",
"hgvs_p": "p.Pro873Thr",
"transcript": "ENST00000161863.9",
"protein_id": "ENSP00000161863.4",
"transcript_support_level": 1,
"aa_start": 873,
"aa_end": null,
"aa_length": 1430,
"cds_start": 2617,
"cds_end": null,
"cds_length": 4293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022828.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000161863.9"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2617C>A",
"hgvs_p": "p.Pro873Thr",
"transcript": "ENST00000935143.1",
"protein_id": "ENSP00000605202.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 1461,
"cds_start": 2617,
"cds_end": null,
"cds_length": 4386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935143.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2617C>A",
"hgvs_p": "p.Pro873Thr",
"transcript": "ENST00000873029.1",
"protein_id": "ENSP00000543088.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 1430,
"cds_start": 2617,
"cds_end": null,
"cds_length": 4293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873029.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2614C>A",
"hgvs_p": "p.Pro872Thr",
"transcript": "ENST00000948231.1",
"protein_id": "ENSP00000618290.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1429,
"cds_start": 2614,
"cds_end": null,
"cds_length": 4290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948231.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2617C>A",
"hgvs_p": "p.Pro873Thr",
"transcript": "ENST00000935141.1",
"protein_id": "ENSP00000605200.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 1408,
"cds_start": 2617,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935141.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2617C>A",
"hgvs_p": "p.Pro873Thr",
"transcript": "ENST00000935142.1",
"protein_id": "ENSP00000605201.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 1408,
"cds_start": 2617,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935142.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2503C>A",
"hgvs_p": "p.Pro835Thr",
"transcript": "ENST00000948229.1",
"protein_id": "ENSP00000618288.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 1392,
"cds_start": 2503,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948229.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2224C>A",
"hgvs_p": "p.Pro742Thr",
"transcript": "ENST00000948227.1",
"protein_id": "ENSP00000618286.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 1299,
"cds_start": 2224,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948227.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2131C>A",
"hgvs_p": "p.Pro711Thr",
"transcript": "NM_001345975.2",
"protein_id": "NP_001332904.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 1268,
"cds_start": 2131,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345975.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.1717C>A",
"hgvs_p": "p.Pro573Thr",
"transcript": "NM_001345976.2",
"protein_id": "NP_001332905.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 1130,
"cds_start": 1717,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345976.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2617C>A",
"hgvs_p": "p.Pro873Thr",
"transcript": "XM_011543581.2",
"protein_id": "XP_011541883.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 1439,
"cds_start": 2617,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543581.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2617C>A",
"hgvs_p": "p.Pro873Thr",
"transcript": "XM_047417527.1",
"protein_id": "XP_047273483.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 1430,
"cds_start": 2617,
"cds_end": null,
"cds_length": 4293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417527.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2617C>A",
"hgvs_p": "p.Pro873Thr",
"transcript": "XM_011543582.3",
"protein_id": "XP_011541884.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 1406,
"cds_start": 2617,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543582.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2131C>A",
"hgvs_p": "p.Pro711Thr",
"transcript": "XM_047417528.1",
"protein_id": "XP_047273484.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 1277,
"cds_start": 2131,
"cds_end": null,
"cds_length": 3834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417528.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2617C>A",
"hgvs_p": "p.Pro873Thr",
"transcript": "XM_011543586.3",
"protein_id": "XP_011541888.1",
"transcript_support_level": null,
"aa_start": 873,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2617,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543586.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.1717C>A",
"hgvs_p": "p.Pro573Thr",
"transcript": "XM_047417529.1",
"protein_id": "XP_047273485.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 1139,
"cds_start": 1717,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417529.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2442+541C>A",
"hgvs_p": null,
"transcript": "ENST00000948228.1",
"protein_id": "ENSP00000618287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1317,
"cds_start": null,
"cds_end": null,
"cds_length": 3954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948228.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "c.2442+541C>A",
"hgvs_p": null,
"transcript": "ENST00000948230.1",
"protein_id": "ENSP00000618289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1317,
"cds_start": null,
"cds_end": null,
"cds_length": 3954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948230.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "n.2819C>A",
"hgvs_p": null,
"transcript": "XR_246540.4",
"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": "XR_246540.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"hgvs_c": "n.2819C>A",
"hgvs_p": null,
"transcript": "XR_948288.3",
"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": "XR_948288.3"
}
],
"gene_symbol": "YTHDC2",
"gene_hgnc_id": 24721,
"dbsnp": "rs193921121",
"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": 0.8332905769348145,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.474,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9615,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.84,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022828.5",
"gene_symbol": "YTHDC2",
"hgnc_id": 24721,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2617C>A",
"hgvs_p": "p.Pro873Thr"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}