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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: 6-44426633-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=44426633&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 44426633,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001253.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC5L",
"gene_hgnc_id": 1743,
"hgvs_c": "c.1802A>G",
"hgvs_p": "p.Lys601Arg",
"transcript": "NM_001253.4",
"protein_id": "NP_001244.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 802,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371477.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC5L",
"gene_hgnc_id": 1743,
"hgvs_c": "c.1802A>G",
"hgvs_p": "p.Lys601Arg",
"transcript": "ENST00000371477.4",
"protein_id": "ENSP00000360532.3",
"transcript_support_level": 1,
"aa_start": 601,
"aa_end": null,
"aa_length": 802,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001253.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371477.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC5L",
"gene_hgnc_id": 1743,
"hgvs_c": "c.1721A>G",
"hgvs_p": "p.Lys574Arg",
"transcript": "ENST00000862195.1",
"protein_id": "ENSP00000532254.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 775,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862195.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC5L",
"gene_hgnc_id": 1743,
"hgvs_c": "c.1721A>G",
"hgvs_p": "p.Lys574Arg",
"transcript": "ENST00000918589.1",
"protein_id": "ENSP00000588648.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 775,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918589.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC5L",
"gene_hgnc_id": 1743,
"hgvs_c": "c.1802A>G",
"hgvs_p": "p.Lys601Arg",
"transcript": "ENST00000862194.1",
"protein_id": "ENSP00000532253.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 736,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862194.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC5L",
"gene_hgnc_id": 1743,
"hgvs_c": "c.1367A>G",
"hgvs_p": "p.Lys456Arg",
"transcript": "XM_047419605.1",
"protein_id": "XP_047275561.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 657,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419605.1"
},
{
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDC5L",
"gene_hgnc_id": 1743,
"hgvs_c": "c.1650+450A>G",
"hgvs_p": null,
"transcript": "ENST00000862196.1",
"protein_id": "ENSP00000532255.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862196.1"
},
{
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CDC5L",
"gene_hgnc_id": 1743,
"hgvs_c": "c.1569+2050A>G",
"hgvs_p": null,
"transcript": "ENST00000918588.1",
"protein_id": "ENSP00000588647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": null,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918588.1"
},
{
"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": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDC5L",
"gene_hgnc_id": 1743,
"hgvs_c": "c.1650+450A>G",
"hgvs_p": null,
"transcript": "ENST00000965044.1",
"protein_id": "ENSP00000635103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 655,
"cds_start": null,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965044.1"
}
],
"gene_symbol": "CDC5L",
"gene_hgnc_id": 1743,
"dbsnp": "rs368161524",
"frequency_reference_population": 0.00002603166,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000273742,
"gnomad_genomes_af": 0.0000131415,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14319714903831482,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.0758,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.691,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001253.4",
"gene_symbol": "CDC5L",
"hgnc_id": 1743,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1802A>G",
"hgvs_p": "p.Lys601Arg"
}
],
"clinvar_disease": "Congenital anomaly of kidney and urinary tract",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Congenital anomaly of kidney and urinary tract",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}