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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: 21-41901660-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=41901660&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 41901660,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015500.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2",
"gene_hgnc_id": 1266,
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508Trp",
"transcript": "NM_015500.2",
"protein_id": "NP_056315.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 696,
"cds_start": 1522,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380486.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015500.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2",
"gene_hgnc_id": 1266,
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508Trp",
"transcript": "ENST00000380486.4",
"protein_id": "ENSP00000369853.3",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 696,
"cds_start": 1522,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015500.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380486.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2",
"gene_hgnc_id": 1266,
"hgvs_c": "c.1057C>T",
"hgvs_p": "p.Arg353Trp",
"transcript": "ENST00000329623.11",
"protein_id": "ENSP00000329302.7",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 541,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329623.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2",
"gene_hgnc_id": 1266,
"hgvs_c": "n.1522C>T",
"hgvs_p": null,
"transcript": "ENST00000482186.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000482186.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2",
"gene_hgnc_id": 1266,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Arg473Trp",
"transcript": "ENST00000890791.1",
"protein_id": "ENSP00000560850.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 661,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890791.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2",
"gene_hgnc_id": 1266,
"hgvs_c": "c.1057C>T",
"hgvs_p": "p.Arg353Trp",
"transcript": "NM_199050.3",
"protein_id": "NP_950251.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 541,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199050.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2",
"gene_hgnc_id": 1266,
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Arg519Trp",
"transcript": "XM_011529522.3",
"protein_id": "XP_011527824.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 707,
"cds_start": 1555,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529522.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2",
"gene_hgnc_id": 1266,
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Arg428Trp",
"transcript": "XM_011529523.3",
"protein_id": "XP_011527825.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 616,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529523.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2",
"gene_hgnc_id": 1266,
"hgvs_c": "c.1057C>T",
"hgvs_p": "p.Arg353Trp",
"transcript": "XM_005261109.5",
"protein_id": "XP_005261166.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 541,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261109.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2",
"gene_hgnc_id": 1266,
"hgvs_c": "n.1245C>T",
"hgvs_p": null,
"transcript": "ENST00000467074.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000467074.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2",
"gene_hgnc_id": 1266,
"hgvs_c": "n.1103C>T",
"hgvs_p": null,
"transcript": "ENST00000482084.5",
"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": "ENST00000482084.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD2",
"gene_hgnc_id": 1266,
"hgvs_c": "c.-9C>T",
"hgvs_p": null,
"transcript": "ENST00000449165.5",
"protein_id": "ENSP00000388704.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449165.5"
}
],
"gene_symbol": "C2CD2",
"gene_hgnc_id": 1266,
"dbsnp": "rs777276877",
"frequency_reference_population": 0.000021065596,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000212064,
"gnomad_genomes_af": 0.0000197127,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.45604395866394043,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.248,
"revel_prediction": "Benign",
"alphamissense_score": 0.3201,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.913,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_015500.2",
"gene_symbol": "C2CD2",
"hgnc_id": 1266,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508Trp"
}
],
"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
}