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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: 20-20228340-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=20228340&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 20228340,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000245957.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"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": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.2024G>A",
"hgvs_p": "p.Ser675Asn",
"transcript": "NM_015585.4",
"protein_id": "NP_056400.3",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 1237,
"cds_start": 2024,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": "ENST00000245957.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"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": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.2024G>A",
"hgvs_p": "p.Ser675Asn",
"transcript": "ENST00000245957.10",
"protein_id": "ENSP00000245957.5",
"transcript_support_level": 1,
"aa_start": 675,
"aa_end": null,
"aa_length": 1237,
"cds_start": 2024,
"cds_end": null,
"cds_length": 3714,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": "NM_015585.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Ser31Asn",
"transcript": "ENST00000377293.5",
"protein_id": "ENSP00000366508.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 200,
"cds_start": 92,
"cds_end": null,
"cds_length": 603,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Ser31Asn",
"transcript": "ENST00000389656.4",
"protein_id": "ENSP00000374307.3",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 200,
"cds_start": 92,
"cds_end": null,
"cds_length": 603,
"cdna_start": 95,
"cdna_end": null,
"cdna_length": 776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.1811G>A",
"hgvs_p": "p.Ser604Asn",
"transcript": "ENST00000674269.1",
"protein_id": "ENSP00000501498.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 704,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Ser214Asn",
"transcript": "ENST00000431753.1",
"protein_id": "ENSP00000388074.1",
"transcript_support_level": 5,
"aa_start": 214,
"aa_end": null,
"aa_length": 226,
"cds_start": 641,
"cds_end": null,
"cds_length": 681,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "n.92G>A",
"hgvs_p": null,
"transcript": "ENST00000377308.6",
"protein_id": "ENSP00000366523.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "n.92G>A",
"hgvs_p": null,
"transcript": "ENST00000468719.6",
"protein_id": "ENSP00000501383.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "n.351G>A",
"hgvs_p": null,
"transcript": "ENST00000476414.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "n.197G>A",
"hgvs_p": null,
"transcript": "ENST00000486624.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "n.809G>A",
"hgvs_p": null,
"transcript": "ENST00000497372.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "n.935G>A",
"hgvs_p": null,
"transcript": "ENST00000674463.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"dbsnp": "rs34744783",
"frequency_reference_population": 0.0005651386,
"hom_count_reference_population": 7,
"allele_count_reference_population": 911,
"gnomad_exomes_af": 0.000319931,
"gnomad_genomes_af": 0.00291518,
"gnomad_exomes_ac": 467,
"gnomad_genomes_ac": 444,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004568129777908325,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.074,
"revel_prediction": "Benign",
"alphamissense_score": 0.0691,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.209,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000245957.10",
"gene_symbol": "CFAP61",
"hgnc_id": 15872,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2024G>A",
"hgvs_p": "p.Ser675Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}