← 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: 2-165676412-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=165676412&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 165676412,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001439057.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.509A>C",
"hgvs_p": "p.Glu170Ala",
"transcript": "NM_001172173.2",
"protein_id": "NP_001165644.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 585,
"cds_start": 509,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 11737,
"mane_select": "ENST00000651982.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172173.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.509A>C",
"hgvs_p": "p.Glu170Ala",
"transcript": "ENST00000651982.1",
"protein_id": "ENSP00000498841.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 585,
"cds_start": 509,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 11737,
"mane_select": "NM_001172173.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651982.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.509A>C",
"hgvs_p": "p.Glu170Ala",
"transcript": "ENST00000342316.8",
"protein_id": "ENSP00000344042.4",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 585,
"cds_start": 509,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 11684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342316.8"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.605A>C",
"hgvs_p": "p.Glu202Ala",
"transcript": "NM_001439057.1",
"protein_id": "NP_001425986.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 617,
"cds_start": 605,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 11660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439057.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.605A>C",
"hgvs_p": "p.Glu202Ala",
"transcript": "ENST00000409420.1",
"protein_id": "ENSP00000387195.1",
"transcript_support_level": 5,
"aa_start": 202,
"aa_end": null,
"aa_length": 617,
"cds_start": 605,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409420.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.509A>C",
"hgvs_p": "p.Glu170Ala",
"transcript": "NM_024969.3",
"protein_id": "NP_079245.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 585,
"cds_start": 509,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 11687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024969.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.509A>C",
"hgvs_p": "p.Glu170Ala",
"transcript": "ENST00000314499.11",
"protein_id": "ENSP00000318258.7",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 585,
"cds_start": 509,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 11788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314499.11"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.509A>C",
"hgvs_p": "p.Glu170Ala",
"transcript": "ENST00000871763.1",
"protein_id": "ENSP00000541822.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 585,
"cds_start": 509,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871763.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.509A>C",
"hgvs_p": "p.Glu170Ala",
"transcript": "ENST00000871764.1",
"protein_id": "ENSP00000541823.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 585,
"cds_start": 509,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871764.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.509A>C",
"hgvs_p": "p.Glu170Ala",
"transcript": "ENST00000871765.1",
"protein_id": "ENSP00000541824.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 585,
"cds_start": 509,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871765.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.509A>C",
"hgvs_p": "p.Glu170Ala",
"transcript": "ENST00000871766.1",
"protein_id": "ENSP00000541825.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 585,
"cds_start": 509,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871766.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.509A>C",
"hgvs_p": "p.Glu170Ala",
"transcript": "ENST00000421875.5",
"protein_id": "ENSP00000412081.1",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 436,
"cds_start": 509,
"cds_end": null,
"cds_length": 1312,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421875.5"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.683A>C",
"hgvs_p": "p.Glu228Ala",
"transcript": "XM_047445907.1",
"protein_id": "XP_047301863.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 643,
"cds_start": 683,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 11738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445907.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.509A>C",
"hgvs_p": "p.Glu170Ala",
"transcript": "XM_024453155.2",
"protein_id": "XP_024308923.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 585,
"cds_start": 509,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 11860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453155.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.509A>C",
"hgvs_p": "p.Glu170Ala",
"transcript": "XM_047445908.1",
"protein_id": "XP_047301864.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 585,
"cds_start": 509,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 12871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445908.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.501+8A>C",
"hgvs_p": null,
"transcript": "ENST00000871767.1",
"protein_id": "ENSP00000541826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": null,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871767.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"hgvs_c": "c.*93A>C",
"hgvs_p": null,
"transcript": "ENST00000409664.5",
"protein_id": "ENSP00000386278.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409664.5"
}
],
"gene_symbol": "CSRNP3",
"gene_hgnc_id": 30729,
"dbsnp": "rs769777169",
"frequency_reference_population": 0.000020449721,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000212112,
"gnomad_genomes_af": 0.0000131387,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5360691547393799,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": 0.9602,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001439057.1",
"gene_symbol": "CSRNP3",
"hgnc_id": 30729,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.605A>C",
"hgvs_p": "p.Glu202Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}