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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: 8-112234440-GC-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=112234440&ref=GC&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CSMD3",
"hgnc_id": 19291,
"hgvs_c": "c.10664_10665delGCinsCT",
"hgvs_p": "p.Arg3555Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_198123.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3707,
"aa_ref": "R",
"aa_start": 3555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13052,
"cdna_start": 10750,
"cds_end": null,
"cds_length": 11124,
"cds_start": 10664,
"consequences": [
"missense_variant"
],
"exon_count": 71,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_198123.2",
"gene_hgnc_id": 19291,
"gene_symbol": "CSMD3",
"hgvs_c": "c.10664_10665delGCinsCT",
"hgvs_p": "p.Arg3555Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000297405.10",
"protein_coding": true,
"protein_id": "NP_937756.1",
"strand": false,
"transcript": "NM_198123.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3707,
"aa_ref": "R",
"aa_start": 3555,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13052,
"cdna_start": 10750,
"cds_end": null,
"cds_length": 11124,
"cds_start": 10664,
"consequences": [
"missense_variant"
],
"exon_count": 71,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000297405.10",
"gene_hgnc_id": 19291,
"gene_symbol": "CSMD3",
"hgvs_c": "c.10664_10665delGCinsCT",
"hgvs_p": "p.Arg3555Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198123.2",
"protein_coding": true,
"protein_id": "ENSP00000297405.5",
"strand": false,
"transcript": "ENST00000297405.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3667,
"aa_ref": "R",
"aa_start": 3515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13018,
"cdna_start": 10716,
"cds_end": null,
"cds_length": 11004,
"cds_start": 10544,
"consequences": [
"missense_variant"
],
"exon_count": 72,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000343508.7",
"gene_hgnc_id": 19291,
"gene_symbol": "CSMD3",
"hgvs_c": "c.10544_10545delGCinsCT",
"hgvs_p": "p.Arg3515Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345799.3",
"strand": false,
"transcript": "ENST00000343508.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3538,
"aa_ref": "R",
"aa_start": 3386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12485,
"cdna_start": 10187,
"cds_end": null,
"cds_length": 10617,
"cds_start": 10157,
"consequences": [
"missense_variant"
],
"exon_count": 69,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000455883.2",
"gene_hgnc_id": 19291,
"gene_symbol": "CSMD3",
"hgvs_c": "c.10157_10158delGCinsCT",
"hgvs_p": "p.Arg3386Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412263.2",
"strand": false,
"transcript": "ENST00000455883.2",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2977,
"aa_ref": "R",
"aa_start": 2825,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10773,
"cdna_start": 8475,
"cds_end": null,
"cds_length": 8934,
"cds_start": 8474,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000339701.7",
"gene_hgnc_id": 19291,
"gene_symbol": "CSMD3",
"hgvs_c": "c.8474_8475delGCinsCT",
"hgvs_p": "p.Arg2825Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341558.3",
"strand": false,
"transcript": "ENST00000339701.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3667,
"aa_ref": "R",
"aa_start": 3515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13017,
"cdna_start": 10715,
"cds_end": null,
"cds_length": 11004,
"cds_start": 10544,
"consequences": [
"missense_variant"
],
"exon_count": 72,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_198124.2",
"gene_hgnc_id": 19291,
"gene_symbol": "CSMD3",
"hgvs_c": "c.10544_10545delGCinsCT",
"hgvs_p": "p.Arg3515Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_937757.1",
"strand": false,
"transcript": "NM_198124.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3538,
"aa_ref": "R",
"aa_start": 3386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12545,
"cdna_start": 10243,
"cds_end": null,
"cds_length": 10617,
"cds_start": 10157,
"consequences": [
"missense_variant"
],
"exon_count": 69,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_052900.3",
"gene_hgnc_id": 19291,
"gene_symbol": "CSMD3",
"hgvs_c": "c.10157_10158delGCinsCT",
"hgvs_p": "p.Arg3386Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_443132.3",
"strand": false,
"transcript": "NM_052900.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3507,
"aa_ref": "R",
"aa_start": 3355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12452,
"cdna_start": 10150,
"cds_end": null,
"cds_length": 10524,
"cds_start": 10064,
"consequences": [
"missense_variant"
],
"exon_count": 67,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363185.1",
"gene_hgnc_id": 19291,
"gene_symbol": "CSMD3",
"hgvs_c": "c.10064_10065delGCinsCT",
"hgvs_p": "p.Arg3355Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350114.1",
"strand": false,
"transcript": "NM_001363185.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3681,
"aa_ref": "R",
"aa_start": 3529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12974,
"cdna_start": 10672,
"cds_end": null,
"cds_length": 11046,
"cds_start": 10586,
"consequences": [
"missense_variant"
],
"exon_count": 70,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013008.2",
"gene_hgnc_id": 19291,
"gene_symbol": "CSMD3",
"hgvs_c": "c.10586_10587delGCinsCT",
"hgvs_p": "p.Arg3529Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868497.1",
"strand": false,
"transcript": "XM_017013008.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3637,
"aa_ref": "R",
"aa_start": 3485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12842,
"cdna_start": 10540,
"cds_end": null,
"cds_length": 10914,
"cds_start": 10454,
"consequences": [
"missense_variant"
],
"exon_count": 69,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013009.3",
"gene_hgnc_id": 19291,
"gene_symbol": "CSMD3",
"hgvs_c": "c.10454_10455delGCinsCT",
"hgvs_p": "p.Arg3485Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868498.1",
"strand": false,
"transcript": "XM_017013009.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3611,
"aa_ref": "R",
"aa_start": 3459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12764,
"cdna_start": 10462,
"cds_end": null,
"cds_length": 10836,
"cds_start": 10376,
"consequences": [
"missense_variant"
],
"exon_count": 68,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421314.1",
"gene_hgnc_id": 19291,
"gene_symbol": "CSMD3",
"hgvs_c": "c.10376_10377delGCinsCT",
"hgvs_p": "p.Arg3459Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277270.1",
"strand": false,
"transcript": "XM_047421314.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3603,
"aa_ref": "R",
"aa_start": 3451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12740,
"cdna_start": 10438,
"cds_end": null,
"cds_length": 10812,
"cds_start": 10352,
"consequences": [
"missense_variant"
],
"exon_count": 70,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011516816.3",
"gene_hgnc_id": 19291,
"gene_symbol": "CSMD3",
"hgvs_c": "c.10352_10353delGCinsCT",
"hgvs_p": "p.Arg3451Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515118.1",
"strand": false,
"transcript": "XM_011516816.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3577,
"aa_ref": "R",
"aa_start": 3425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12662,
"cdna_start": 10360,
"cds_end": null,
"cds_length": 10734,
"cds_start": 10274,
"consequences": [
"missense_variant"
],
"exon_count": 69,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013010.2",
"gene_hgnc_id": 19291,
"gene_symbol": "CSMD3",
"hgvs_c": "c.10274_10275delGCinsCT",
"hgvs_p": "p.Arg3425Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868499.1",
"strand": false,
"transcript": "XM_017013010.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2173,
"aa_ref": "R",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8628,
"cdna_start": 6326,
"cds_end": null,
"cds_length": 6522,
"cds_start": 6062,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011516815.3",
"gene_hgnc_id": 19291,
"gene_symbol": "CSMD3",
"hgvs_c": "c.6062_6063delGCinsCT",
"hgvs_p": "p.Arg2021Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515117.1",
"strand": false,
"transcript": "XM_011516815.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2486,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000534172.1",
"gene_hgnc_id": 19291,
"gene_symbol": "CSMD3",
"hgvs_c": "n.1303_1304delGCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000534172.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 19291,
"gene_symbol": "CSMD3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.174,
"pos": 112234440,
"ref": "GC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_198123.2"
}
]
}