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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: 8-138651374-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=138651374&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 138651374,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000303045.11",
"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": 65,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.3334-1596T>G",
"hgvs_p": null,
"transcript": "NM_152888.3",
"protein_id": "NP_690848.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1626,
"cds_start": -4,
"cds_end": null,
"cds_length": 4881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6394,
"mane_select": "ENST00000303045.11",
"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": 65,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.3334-1596T>G",
"hgvs_p": null,
"transcript": "ENST00000303045.11",
"protein_id": "ENSP00000303153.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1626,
"cds_start": -4,
"cds_end": null,
"cds_length": 4881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6394,
"mane_select": "NM_152888.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "n.1019-1596T>G",
"hgvs_p": null,
"transcript": "ENST00000341807.8",
"protein_id": null,
"transcript_support_level": 1,
"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": 3584,
"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": 64,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.3274-1596T>G",
"hgvs_p": null,
"transcript": "XM_011516883.3",
"protein_id": "XP_011515185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1606,
"cds_start": -4,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6334,
"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": 63,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.3235-1596T>G",
"hgvs_p": null,
"transcript": "XM_011516884.3",
"protein_id": "XP_011515186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1593,
"cds_start": -4,
"cds_end": null,
"cds_length": 4782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6295,
"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": 63,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.3220-1596T>G",
"hgvs_p": null,
"transcript": "XM_011516885.3",
"protein_id": "XP_011515187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1588,
"cds_start": -4,
"cds_end": null,
"cds_length": 4767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6280,
"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": 65,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.3187-1596T>G",
"hgvs_p": null,
"transcript": "XM_011516886.4",
"protein_id": "XP_011515188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1577,
"cds_start": -4,
"cds_end": null,
"cds_length": 4734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6247,
"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": 65,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.3148-1596T>G",
"hgvs_p": null,
"transcript": "XM_017013150.3",
"protein_id": "XP_016868639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1564,
"cds_start": -4,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6208,
"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": 61,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.3112-1596T>G",
"hgvs_p": null,
"transcript": "XM_017013151.2",
"protein_id": "XP_016868640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1552,
"cds_start": -4,
"cds_end": null,
"cds_length": 4659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6172,
"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": 61,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.2248-1596T>G",
"hgvs_p": null,
"transcript": "XM_011516887.2",
"protein_id": "XP_011515189.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1264,
"cds_start": -4,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5257,
"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": 60,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.2248-1596T>G",
"hgvs_p": null,
"transcript": "XM_017013152.2",
"protein_id": "XP_016868641.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1264,
"cds_start": -4,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5245,
"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": 49,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.3274-1596T>G",
"hgvs_p": null,
"transcript": "XM_011516888.3",
"protein_id": "XP_011515190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1195,
"cds_start": -4,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4873,
"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": 48,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.3220-1596T>G",
"hgvs_p": null,
"transcript": "XM_047421412.1",
"protein_id": "XP_047277368.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1177,
"cds_start": -4,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4819,
"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": 54,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.1630-1596T>G",
"hgvs_p": null,
"transcript": "XM_011516889.3",
"protein_id": "XP_011515191.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1058,
"cds_start": -4,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"dbsnp": "rs3923549",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.11,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000303045.11",
"gene_symbol": "COL22A1",
"hgnc_id": 22989,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3334-1596T>G",
"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
}