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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: 1-173734269-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=173734269&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 173734269,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014458.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"hgvs_c": "c.580C>G",
"hgvs_p": "p.Gln194Glu",
"transcript": "NM_014458.4",
"protein_id": "NP_055273.2",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 609,
"cds_start": 580,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000209884.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014458.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"hgvs_c": "c.580C>G",
"hgvs_p": "p.Gln194Glu",
"transcript": "ENST00000209884.5",
"protein_id": "ENSP00000209884.4",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 609,
"cds_start": 580,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014458.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000209884.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"hgvs_c": "n.709C>G",
"hgvs_p": null,
"transcript": "ENST00000493170.1",
"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": "ENST00000493170.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"hgvs_c": "c.580C>G",
"hgvs_p": "p.Gln194Glu",
"transcript": "ENST00000875488.1",
"protein_id": "ENSP00000545547.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 649,
"cds_start": 580,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875488.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"hgvs_c": "c.580C>G",
"hgvs_p": "p.Gln194Glu",
"transcript": "ENST00000875486.1",
"protein_id": "ENSP00000545545.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 620,
"cds_start": 580,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875486.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"hgvs_c": "c.580C>G",
"hgvs_p": "p.Gln194Glu",
"transcript": "ENST00000945315.1",
"protein_id": "ENSP00000615374.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 609,
"cds_start": 580,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945315.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"hgvs_c": "c.580C>G",
"hgvs_p": "p.Gln194Glu",
"transcript": "ENST00000875485.1",
"protein_id": "ENSP00000545544.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 561,
"cds_start": 580,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875485.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"hgvs_c": "c.580C>G",
"hgvs_p": "p.Gln194Glu",
"transcript": "ENST00000875487.1",
"protein_id": "ENSP00000545546.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 556,
"cds_start": 580,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875487.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Gln269Glu",
"transcript": "XM_017001052.2",
"protein_id": "XP_016856541.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 684,
"cds_start": 805,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001052.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Gln269Glu",
"transcript": "XM_017001053.2",
"protein_id": "XP_016856542.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 636,
"cds_start": 805,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001053.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"hgvs_c": "c.580C>G",
"hgvs_p": "p.Gln194Glu",
"transcript": "XM_005245093.5",
"protein_id": "XP_005245150.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 609,
"cds_start": 580,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245093.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Gln269Glu",
"transcript": "XM_047418029.1",
"protein_id": "XP_047273985.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 544,
"cds_start": 805,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418029.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Gln269Glu",
"transcript": "XM_047418030.1",
"protein_id": "XP_047273986.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 519,
"cds_start": 805,
"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": "XM_047418030.1"
},
{
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"hgvs_c": "c.31-17495C>G",
"hgvs_p": null,
"transcript": "XM_024446468.2",
"protein_id": "XP_024302236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": null,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446468.2"
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"hgvs_c": "c.31-17495C>G",
"hgvs_p": null,
"transcript": "XM_024446472.2",
"protein_id": "XP_024302240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": null,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446472.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"hgvs_c": "n.*52C>G",
"hgvs_p": null,
"transcript": "ENST00000483154.5",
"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": "ENST00000483154.5"
}
],
"gene_symbol": "KLHL20",
"gene_hgnc_id": 25056,
"dbsnp": null,
"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": 0.6288747191429138,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.195,
"revel_prediction": "Benign",
"alphamissense_score": 0.4595,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.798,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014458.4",
"gene_symbol": "KLHL20",
"hgnc_id": 25056,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.580C>G",
"hgvs_p": "p.Gln194Glu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}