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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: 8-112643523-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=112643523&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 112643523,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000297405.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.3310+1586A>G",
"hgvs_p": null,
"transcript": "NM_198123.2",
"protein_id": "NP_937756.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3707,
"cds_start": -4,
"cds_end": null,
"cds_length": 11124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13052,
"mane_select": "ENST00000297405.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.3310+1586A>G",
"hgvs_p": null,
"transcript": "ENST00000297405.10",
"protein_id": "ENSP00000297405.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3707,
"cds_start": -4,
"cds_end": null,
"cds_length": 11124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13052,
"mane_select": "NM_198123.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.3190+1586A>G",
"hgvs_p": null,
"transcript": "ENST00000343508.7",
"protein_id": "ENSP00000345799.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3667,
"cds_start": -4,
"cds_end": null,
"cds_length": 11004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.2998+1586A>G",
"hgvs_p": null,
"transcript": "ENST00000455883.2",
"protein_id": "ENSP00000412263.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3538,
"cds_start": -4,
"cds_end": null,
"cds_length": 10617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.1330+1586A>G",
"hgvs_p": null,
"transcript": "ENST00000339701.7",
"protein_id": "ENSP00000341558.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2977,
"cds_start": -4,
"cds_end": null,
"cds_length": 8934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR2053",
"gene_hgnc_id": 37069,
"hgvs_c": "n.31T>C",
"hgvs_p": null,
"transcript": "ENST00000459295.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 91,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR2053",
"gene_hgnc_id": 37069,
"hgvs_c": "n.31T>C",
"hgvs_p": null,
"transcript": "NR_031745.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 91,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.3190+1586A>G",
"hgvs_p": null,
"transcript": "NM_198124.2",
"protein_id": "NP_937757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3667,
"cds_start": -4,
"cds_end": null,
"cds_length": 11004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.2998+1586A>G",
"hgvs_p": null,
"transcript": "NM_052900.3",
"protein_id": "NP_443132.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3538,
"cds_start": -4,
"cds_end": null,
"cds_length": 10617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.2920+1586A>G",
"hgvs_p": null,
"transcript": "NM_001363185.1",
"protein_id": "NP_001350114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3507,
"cds_start": -4,
"cds_end": null,
"cds_length": 10524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.3232+1586A>G",
"hgvs_p": null,
"transcript": "XM_017013008.2",
"protein_id": "XP_016868497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3681,
"cds_start": -4,
"cds_end": null,
"cds_length": 11046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.3310+1586A>G",
"hgvs_p": null,
"transcript": "XM_017013009.3",
"protein_id": "XP_016868498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3637,
"cds_start": -4,
"cds_end": null,
"cds_length": 10914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.3232+1586A>G",
"hgvs_p": null,
"transcript": "XM_047421314.1",
"protein_id": "XP_047277270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3611,
"cds_start": -4,
"cds_end": null,
"cds_length": 10836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 70,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.2998+1586A>G",
"hgvs_p": null,
"transcript": "XM_011516816.3",
"protein_id": "XP_011515118.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3603,
"cds_start": -4,
"cds_end": null,
"cds_length": 10812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 69,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"hgvs_c": "c.2920+1586A>G",
"hgvs_p": null,
"transcript": "XM_017013010.2",
"protein_id": "XP_016868499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3577,
"cds_start": -4,
"cds_end": null,
"cds_length": 10734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR2053",
"gene_hgnc_id": 37069,
"hgvs_c": "n.-30T>C",
"hgvs_p": null,
"transcript": "unassigned_transcript_1518",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 23,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CSMD3",
"gene_hgnc_id": 19291,
"dbsnp": "rs10505168",
"frequency_reference_population": 0.3526161,
"hom_count_reference_population": 11265,
"allele_count_reference_population": 59913,
"gnomad_exomes_af": 0.34778,
"gnomad_genomes_af": 0.353188,
"gnomad_exomes_ac": 6251,
"gnomad_genomes_ac": 53662,
"gnomad_exomes_homalt": 1086,
"gnomad_genomes_homalt": 10179,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.47,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000297405.10",
"gene_symbol": "CSMD3",
"hgnc_id": 19291,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3310+1586A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_031745.1",
"gene_symbol": "MIR2053",
"hgnc_id": 37069,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.31T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}