← Back to variant description
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: 4-786573-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=786573&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 786573,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_006651.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLX1",
"gene_hgnc_id": 2309,
"hgvs_c": "c.333G>A",
"hgvs_p": "p.Glu111Glu",
"transcript": "NM_006651.4",
"protein_id": "NP_006642.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 134,
"cds_start": 333,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304062.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006651.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLX1",
"gene_hgnc_id": 2309,
"hgvs_c": "c.333G>A",
"hgvs_p": "p.Glu111Glu",
"transcript": "ENST00000304062.11",
"protein_id": "ENSP00000305613.6",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 134,
"cds_start": 333,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006651.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304062.11"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLX1",
"gene_hgnc_id": 2309,
"hgvs_c": "c.333G>A",
"hgvs_p": "p.Glu111Glu",
"transcript": "ENST00000892263.1",
"protein_id": "ENSP00000562322.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 134,
"cds_start": 333,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892263.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLX1",
"gene_hgnc_id": 2309,
"hgvs_c": "c.333G>A",
"hgvs_p": "p.Glu111Glu",
"transcript": "ENST00000892264.1",
"protein_id": "ENSP00000562323.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 134,
"cds_start": 333,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892264.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLX1",
"gene_hgnc_id": 2309,
"hgvs_c": "c.333G>A",
"hgvs_p": "p.Glu111Glu",
"transcript": "ENST00000892265.1",
"protein_id": "ENSP00000562324.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 134,
"cds_start": 333,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892265.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLX1",
"gene_hgnc_id": 2309,
"hgvs_c": "c.333G>A",
"hgvs_p": "p.Glu111Glu",
"transcript": "ENST00000892266.1",
"protein_id": "ENSP00000562325.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 134,
"cds_start": 333,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892266.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLX1",
"gene_hgnc_id": 2309,
"hgvs_c": "c.333G>A",
"hgvs_p": "p.Glu111Glu",
"transcript": "ENST00000892267.1",
"protein_id": "ENSP00000562326.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 134,
"cds_start": 333,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892267.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLX1",
"gene_hgnc_id": 2309,
"hgvs_c": "c.333G>A",
"hgvs_p": "p.Glu111Glu",
"transcript": "ENST00000944762.1",
"protein_id": "ENSP00000614821.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 134,
"cds_start": 333,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944762.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLX1",
"gene_hgnc_id": 2309,
"hgvs_c": "c.270G>A",
"hgvs_p": "p.Glu90Glu",
"transcript": "ENST00000505203.1",
"protein_id": "ENSP00000425960.1",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 113,
"cds_start": 270,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505203.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLX1",
"gene_hgnc_id": 2309,
"hgvs_c": "c.288G>A",
"hgvs_p": "p.Glu96Glu",
"transcript": "ENST00000504062.1",
"protein_id": "ENSP00000421947.1",
"transcript_support_level": 3,
"aa_start": 96,
"aa_end": null,
"aa_length": 109,
"cds_start": 288,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504062.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLX1",
"gene_hgnc_id": 2309,
"hgvs_c": "c.288G>A",
"hgvs_p": "p.Glu96Glu",
"transcript": "XM_011513391.2",
"protein_id": "XP_011511693.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 119,
"cds_start": 288,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513391.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "CPLX1",
"gene_hgnc_id": 2309,
"hgvs_c": "n.386G>A",
"hgvs_p": null,
"transcript": "ENST00000506404.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000506404.1"
}
],
"gene_symbol": "CPLX1",
"gene_hgnc_id": 2309,
"dbsnp": "rs986016483",
"frequency_reference_population": 0.000006830898,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000480026,
"gnomad_genomes_af": 0.0000263026,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.33000001311302185,
"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": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.137,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_006651.4",
"gene_symbol": "CPLX1",
"hgnc_id": 2309,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.333G>A",
"hgvs_p": "p.Glu111Glu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}