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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: 1-32042554-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=32042554&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 32042554,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006559.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "c.1262C>T",
"hgvs_p": "p.Pro421Leu",
"transcript": "NM_006559.3",
"protein_id": "NP_006550.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 443,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327300.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006559.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "c.1262C>T",
"hgvs_p": "p.Pro421Leu",
"transcript": "ENST00000327300.12",
"protein_id": "ENSP00000313829.7",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 443,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006559.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327300.12"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "c.1145C>T",
"hgvs_p": "p.Pro382Leu",
"transcript": "ENST00000492989.1",
"protein_id": "ENSP00000417731.1",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 404,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492989.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "n.1415C>T",
"hgvs_p": null,
"transcript": "ENST00000307714.12",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000307714.12"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Pro450Leu",
"transcript": "ENST00000906251.1",
"protein_id": "ENSP00000576310.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 472,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906251.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Pro420Leu",
"transcript": "ENST00000916417.1",
"protein_id": "ENSP00000586476.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 442,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916417.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "c.1256C>T",
"hgvs_p": "p.Pro419Leu",
"transcript": "ENST00000967223.1",
"protein_id": "ENSP00000637282.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 441,
"cds_start": 1256,
"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": "ENST00000967223.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "c.1238C>T",
"hgvs_p": "p.Pro413Leu",
"transcript": "ENST00000906250.1",
"protein_id": "ENSP00000576309.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 435,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906250.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "c.1145C>T",
"hgvs_p": "p.Pro382Leu",
"transcript": "NM_001271878.2",
"protein_id": "NP_001258807.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 404,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271878.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "c.1094C>T",
"hgvs_p": "p.Pro365Leu",
"transcript": "ENST00000967224.1",
"protein_id": "ENSP00000637283.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 387,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967224.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "c.992C>T",
"hgvs_p": "p.Pro331Leu",
"transcript": "ENST00000916418.1",
"protein_id": "ENSP00000586477.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 353,
"cds_start": 992,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916418.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "c.926C>T",
"hgvs_p": "p.Pro309Leu",
"transcript": "ENST00000916419.1",
"protein_id": "ENSP00000586478.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 331,
"cds_start": 926,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916419.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "c.875C>T",
"hgvs_p": "p.Pro292Leu",
"transcript": "ENST00000906249.1",
"protein_id": "ENSP00000576308.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 314,
"cds_start": 875,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906249.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "n.1076C>T",
"hgvs_p": null,
"transcript": "ENST00000484270.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000484270.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "n.1473C>T",
"hgvs_p": null,
"transcript": "NR_073498.2",
"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": "NR_073498.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "n.1390C>T",
"hgvs_p": null,
"transcript": "NR_073499.2",
"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": "NR_073499.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHDRBS1",
"gene_hgnc_id": 18116,
"hgvs_c": "n.1273C>T",
"hgvs_p": null,
"transcript": "XR_007066502.1",
"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": "XR_007066502.1"
}
],
"gene_symbol": "KHDRBS1",
"gene_hgnc_id": 18116,
"dbsnp": "rs750291697",
"frequency_reference_population": 0.000013014894,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000123173,
"gnomad_genomes_af": 0.000019714,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17528024315834045,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.2274,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.297,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "PP2,PP5_Moderate,BP4,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 5,
"pathogenic_score": 3,
"criteria": [
"PP2",
"PP5_Moderate",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006559.3",
"gene_symbol": "KHDRBS1",
"hgnc_id": 18116,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1262C>T",
"hgvs_p": "p.Pro421Leu"
}
],
"clinvar_disease": "Premature ovarian failure",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Premature ovarian failure",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}