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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: 6-47612492-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=47612492&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 47612492,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_012120.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1834C>A",
"hgvs_p": "p.Arg612Arg",
"transcript": "NM_012120.3",
"protein_id": "NP_036252.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 639,
"cds_start": 1834,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359314.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012120.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1834C>A",
"hgvs_p": "p.Arg612Arg",
"transcript": "ENST00000359314.5",
"protein_id": "ENSP00000352264.5",
"transcript_support_level": 1,
"aa_start": 612,
"aa_end": null,
"aa_length": 639,
"cds_start": 1834,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012120.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359314.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1837C>A",
"hgvs_p": "p.Arg613Arg",
"transcript": "ENST00000865253.1",
"protein_id": "ENSP00000535312.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 640,
"cds_start": 1837,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865253.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1825C>A",
"hgvs_p": "p.Arg609Arg",
"transcript": "ENST00000931707.1",
"protein_id": "ENSP00000601766.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 636,
"cds_start": 1825,
"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": "ENST00000931707.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1825C>A",
"hgvs_p": "p.Arg609Arg",
"transcript": "ENST00000931708.1",
"protein_id": "ENSP00000601767.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 636,
"cds_start": 1825,
"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": "ENST00000931708.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1822C>A",
"hgvs_p": "p.Arg608Arg",
"transcript": "ENST00000865252.1",
"protein_id": "ENSP00000535311.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 635,
"cds_start": 1822,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865252.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1810C>A",
"hgvs_p": "p.Arg604Arg",
"transcript": "ENST00000931709.1",
"protein_id": "ENSP00000601768.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 631,
"cds_start": 1810,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931709.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1771C>A",
"hgvs_p": "p.Arg591Arg",
"transcript": "ENST00000960842.1",
"protein_id": "ENSP00000630901.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 618,
"cds_start": 1771,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960842.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1297C>A",
"hgvs_p": "p.Arg433Arg",
"transcript": "ENST00000865254.1",
"protein_id": "ENSP00000535313.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 460,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865254.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1822C>A",
"hgvs_p": "p.Arg608Arg",
"transcript": "XM_005248976.2",
"protein_id": "XP_005249033.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 635,
"cds_start": 1822,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248976.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1687C>A",
"hgvs_p": "p.Arg563Arg",
"transcript": "XM_011514449.3",
"protein_id": "XP_011512751.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 590,
"cds_start": 1687,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514449.3"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.421-11694C>A",
"hgvs_p": null,
"transcript": "ENST00000960843.1",
"protein_id": "ENSP00000630902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960843.1"
}
],
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"dbsnp": "rs267606710",
"frequency_reference_population": 0.0000048197217,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000481972,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5699999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.966,
"phylop100way_prediction": "Benign",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_012120.3",
"gene_symbol": "CD2AP",
"hgnc_id": 14258,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1834C>A",
"hgvs_p": "p.Arg612Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}