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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: 18-72538723-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=72538723&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 72538723,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_182511.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "c.407T>C",
"hgvs_p": "p.Val136Ala",
"transcript": "NM_182511.4",
"protein_id": "NP_872317.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 224,
"cds_start": 407,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269503.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182511.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "c.407T>C",
"hgvs_p": "p.Val136Ala",
"transcript": "ENST00000269503.9",
"protein_id": "ENSP00000269503.4",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 224,
"cds_start": 407,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182511.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269503.9"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "c.407T>C",
"hgvs_p": "p.Val136Ala",
"transcript": "ENST00000585159.5",
"protein_id": "ENSP00000463771.1",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 224,
"cds_start": 407,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585159.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "c.407T>C",
"hgvs_p": "p.Val136Ala",
"transcript": "ENST00000881350.1",
"protein_id": "ENSP00000551409.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 224,
"cds_start": 407,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881350.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "c.407T>C",
"hgvs_p": "p.Val136Ala",
"transcript": "ENST00000881351.1",
"protein_id": "ENSP00000551410.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 224,
"cds_start": 407,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881351.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "c.407T>C",
"hgvs_p": "p.Val136Ala",
"transcript": "ENST00000881352.1",
"protein_id": "ENSP00000551411.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 224,
"cds_start": 407,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881352.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "c.407T>C",
"hgvs_p": "p.Val136Ala",
"transcript": "ENST00000971390.1",
"protein_id": "ENSP00000641449.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 224,
"cds_start": 407,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971390.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "c.407T>C",
"hgvs_p": "p.Val136Ala",
"transcript": "ENST00000971391.1",
"protein_id": "ENSP00000641450.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 224,
"cds_start": 407,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971391.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "c.65T>C",
"hgvs_p": "p.Val22Ala",
"transcript": "ENST00000581073.1",
"protein_id": "ENSP00000462632.1",
"transcript_support_level": 4,
"aa_start": 22,
"aa_end": null,
"aa_length": 110,
"cds_start": 65,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581073.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "c.59T>C",
"hgvs_p": "p.Val20Ala",
"transcript": "ENST00000584764.5",
"protein_id": "ENSP00000464490.1",
"transcript_support_level": 4,
"aa_start": 20,
"aa_end": null,
"aa_length": 108,
"cds_start": 59,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584764.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "c.407T>C",
"hgvs_p": "p.Val136Ala",
"transcript": "XM_006722394.4",
"protein_id": "XP_006722457.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 224,
"cds_start": 407,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722394.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "c.407T>C",
"hgvs_p": "p.Val136Ala",
"transcript": "XM_011525824.3",
"protein_id": "XP_011524126.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 224,
"cds_start": 407,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525824.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "c.407T>C",
"hgvs_p": "p.Val136Ala",
"transcript": "XM_017025559.2",
"protein_id": "XP_016881048.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 224,
"cds_start": 407,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025559.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "c.407T>C",
"hgvs_p": "p.Val136Ala",
"transcript": "XM_017025560.2",
"protein_id": "XP_016881049.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 224,
"cds_start": 407,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025560.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "c.407T>C",
"hgvs_p": "p.Val136Ala",
"transcript": "XM_047437303.1",
"protein_id": "XP_047293259.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 224,
"cds_start": 407,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437303.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "n.1576T>C",
"hgvs_p": null,
"transcript": "ENST00000581425.1",
"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": "ENST00000581425.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"hgvs_c": "n.298T>C",
"hgvs_p": null,
"transcript": "ENST00000583651.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000583651.1"
}
],
"gene_symbol": "CBLN2",
"gene_hgnc_id": 1544,
"dbsnp": "rs1400271031",
"frequency_reference_population": 0.000002052374,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205237,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4720911383628845,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20999999344348907,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.2557,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.506,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.21,
"spliceai_max_prediction": "Uncertain_significance",
"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_182511.4",
"gene_symbol": "CBLN2",
"hgnc_id": 1544,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.407T>C",
"hgvs_p": "p.Val136Ala"
}
],
"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
}