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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: 1-6595498-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6595498&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6595498,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014851.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL21",
"gene_hgnc_id": 29041,
"hgvs_c": "c.1487C>G",
"hgvs_p": "p.Pro496Arg",
"transcript": "NM_014851.4",
"protein_id": "NP_055666.2",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 597,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 4487,
"mane_select": "ENST00000377658.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014851.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL21",
"gene_hgnc_id": 29041,
"hgvs_c": "c.1487C>G",
"hgvs_p": "p.Pro496Arg",
"transcript": "ENST00000377658.8",
"protein_id": "ENSP00000366886.4",
"transcript_support_level": 1,
"aa_start": 496,
"aa_end": null,
"aa_length": 597,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 4487,
"mane_select": "NM_014851.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377658.8"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL21",
"gene_hgnc_id": 29041,
"hgvs_c": "c.1487C>G",
"hgvs_p": "p.Pro496Arg",
"transcript": "ENST00000377663.3",
"protein_id": "ENSP00000366891.3",
"transcript_support_level": 1,
"aa_start": 496,
"aa_end": null,
"aa_length": 539,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 6445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377663.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL21",
"gene_hgnc_id": 29041,
"hgvs_c": "c.386C>G",
"hgvs_p": "p.Pro129Arg",
"transcript": "ENST00000496707.5",
"protein_id": "ENSP00000468710.1",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 224,
"cds_start": 386,
"cds_end": null,
"cds_length": 677,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496707.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL21",
"gene_hgnc_id": 29041,
"hgvs_c": "c.1487C>G",
"hgvs_p": "p.Pro496Arg",
"transcript": "NM_001324309.2",
"protein_id": "NP_001311238.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 500,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 4939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324309.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL21",
"gene_hgnc_id": 29041,
"hgvs_c": "c.386C>G",
"hgvs_p": "p.Pro129Arg",
"transcript": "ENST00000467612.5",
"protein_id": "ENSP00000466089.1",
"transcript_support_level": 3,
"aa_start": 129,
"aa_end": null,
"aa_length": 230,
"cds_start": 386,
"cds_end": null,
"cds_length": 693,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467612.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL21",
"gene_hgnc_id": 29041,
"hgvs_c": "c.386C>G",
"hgvs_p": "p.Pro129Arg",
"transcript": "ENST00000463043.1",
"protein_id": "ENSP00000466479.1",
"transcript_support_level": 5,
"aa_start": 129,
"aa_end": null,
"aa_length": 133,
"cds_start": 386,
"cds_end": null,
"cds_length": 402,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463043.1"
}
],
"gene_symbol": "KLHL21",
"gene_hgnc_id": 29041,
"dbsnp": "rs138113060",
"frequency_reference_population": 6.840778e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84078e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.39711612462997437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.175,
"revel_prediction": "Benign",
"alphamissense_score": 0.2308,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.094,
"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": 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_014851.4",
"gene_symbol": "KLHL21",
"hgnc_id": 29041,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1487C>G",
"hgvs_p": "p.Pro496Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}