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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: 3-131840730-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=131840730&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 131840730,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000429747.6",
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"hgvs_c": "c.180+64534C>G",
"hgvs_p": null,
"transcript": "NM_130808.3",
"protein_id": "NP_570720.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": "ENST00000429747.6",
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"hgvs_c": "c.180+64534C>G",
"hgvs_p": null,
"transcript": "ENST00000429747.6",
"protein_id": "ENSP00000411904.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": "NM_130808.3",
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"hgvs_c": "c.234+64534C>G",
"hgvs_p": null,
"transcript": "ENST00000512332.5",
"protein_id": "ENSP00000424853.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": -4,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2230,
"mane_select": null,
"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": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"hgvs_c": "c.180+64534C>G",
"hgvs_p": null,
"transcript": "ENST00000511604.5",
"protein_id": "ENSP00000423811.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2503,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"hgvs_c": "c.234+64534C>G",
"hgvs_p": null,
"transcript": "NM_001289112.2",
"protein_id": "NP_001276041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": -4,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3505,
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"hgvs_c": "c.234+64534C>G",
"hgvs_p": null,
"transcript": "NM_153429.2",
"protein_id": "NP_702907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": -4,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3537,
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"hgvs_c": "c.234+64534C>G",
"hgvs_p": null,
"transcript": "ENST00000502818.5",
"protein_id": "ENSP00000421646.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": -4,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2120,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"hgvs_c": "c.234+64534C>G",
"hgvs_p": null,
"transcript": "ENST00000617767.5",
"protein_id": "ENSP00000478878.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": -4,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3562,
"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": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"hgvs_c": "c.180+64534C>G",
"hgvs_p": null,
"transcript": "ENST00000512055.5",
"protein_id": "ENSP00000421705.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"hgvs_c": "c.-159-117105C>G",
"hgvs_p": null,
"transcript": "NM_001388326.1",
"protein_id": "NP_001375255.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 444,
"cds_start": -4,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"hgvs_c": "c.-159-117105C>G",
"hgvs_p": null,
"transcript": "NM_001388327.1",
"protein_id": "NP_001375256.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 444,
"cds_start": -4,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
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"cdna_length": 3568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"hgvs_c": "c.180+64534C>G",
"hgvs_p": null,
"transcript": "ENST00000505881.5",
"protein_id": "ENSP00000425506.1",
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"hgvs_c": "c.180+64534C>G",
"hgvs_p": null,
"transcript": "ENST00000514999.5",
"protein_id": "ENSP00000427561.1",
"transcript_support_level": 4,
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},
{
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"canonical": false,
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "CPNE4",
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"hgvs_c": "c.180+64534C>G",
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"transcript": "ENST00000505957.1",
"protein_id": "ENSP00000421394.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"hgvs_c": "c.246+64534C>G",
"hgvs_p": null,
"transcript": "XM_047447422.1",
"protein_id": "XP_047303378.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"hgvs_c": "c.180+64534C>G",
"hgvs_p": null,
"transcript": "XM_024453339.2",
"protein_id": "XP_024309107.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 3,
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"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"hgvs_c": "c.246+64534C>G",
"hgvs_p": null,
"transcript": "XM_017005694.3",
"protein_id": "XP_016861183.2",
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105374113",
"gene_hgnc_id": null,
"hgvs_c": "n.189-2678G>C",
"hgvs_p": null,
"transcript": "XR_007096088.1",
"protein_id": null,
"transcript_support_level": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105374113",
"gene_hgnc_id": null,
"hgvs_c": "n.189-2678G>C",
"hgvs_p": null,
"transcript": "XR_007096089.1",
"protein_id": null,
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105374113",
"gene_hgnc_id": null,
"hgvs_c": "n.189-25557G>C",
"hgvs_p": null,
"transcript": "XR_007096090.1",
"protein_id": null,
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"cdna_length": 704,
"mane_select": null,
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"feature": null
}
],
"gene_symbol": "CPNE4",
"gene_hgnc_id": 2317,
"dbsnp": "rs938243",
"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": -0.8399999737739563,
"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": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.089,
"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": "ENST00000429747.6",
"gene_symbol": "CPNE4",
"hgnc_id": 2317,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.180+64534C>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007096088.1",
"gene_symbol": "LOC105374113",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.189-2678G>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
}