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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: 9-138074057-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=138074057&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 138074057,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000371372.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4848C>T",
"hgvs_p": "p.Ile1616Ile",
"transcript": "NM_000718.4",
"protein_id": "NP_000709.1",
"transcript_support_level": null,
"aa_start": 1616,
"aa_end": null,
"aa_length": 2339,
"cds_start": 4848,
"cds_end": null,
"cds_length": 7020,
"cdna_start": 5000,
"cdna_end": null,
"cdna_length": 9792,
"mane_select": "ENST00000371372.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4848C>T",
"hgvs_p": "p.Ile1616Ile",
"transcript": "ENST00000371372.6",
"protein_id": "ENSP00000360423.1",
"transcript_support_level": 5,
"aa_start": 1616,
"aa_end": null,
"aa_length": 2339,
"cds_start": 4848,
"cds_end": null,
"cds_length": 7020,
"cdna_start": 5000,
"cdna_end": null,
"cdna_length": 9792,
"mane_select": "NM_000718.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4845C>T",
"hgvs_p": "p.Ile1615Ile",
"transcript": "ENST00000371357.5",
"protein_id": "ENSP00000360408.1",
"transcript_support_level": 5,
"aa_start": 1615,
"aa_end": null,
"aa_length": 2338,
"cds_start": 4845,
"cds_end": null,
"cds_length": 7017,
"cdna_start": 4845,
"cdna_end": null,
"cdna_length": 9642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4842C>T",
"hgvs_p": "p.Ile1614Ile",
"transcript": "ENST00000371363.5",
"protein_id": "ENSP00000360414.1",
"transcript_support_level": 5,
"aa_start": 1614,
"aa_end": null,
"aa_length": 2337,
"cds_start": 4842,
"cds_end": null,
"cds_length": 7014,
"cdna_start": 4961,
"cdna_end": null,
"cdna_length": 9758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4848C>T",
"hgvs_p": "p.Ile1616Ile",
"transcript": "ENST00000277551.6",
"protein_id": "ENSP00000277551.2",
"transcript_support_level": 5,
"aa_start": 1616,
"aa_end": null,
"aa_length": 2237,
"cds_start": 4848,
"cds_end": null,
"cds_length": 6714,
"cdna_start": 4993,
"cdna_end": null,
"cdna_length": 7158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4974C>T",
"hgvs_p": "p.Ile1658Ile",
"transcript": "ENST00000715548.1",
"protein_id": "ENSP00000520468.1",
"transcript_support_level": null,
"aa_start": 1658,
"aa_end": null,
"aa_length": 2381,
"cds_start": 4974,
"cds_end": null,
"cds_length": 7146,
"cdna_start": 5126,
"cdna_end": null,
"cdna_length": 9918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4911C>T",
"hgvs_p": "p.Ile1637Ile",
"transcript": "ENST00000715544.1",
"protein_id": "ENSP00000520464.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 2360,
"cds_start": 4911,
"cds_end": null,
"cds_length": 7083,
"cdna_start": 5063,
"cdna_end": null,
"cdna_length": 9855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4860C>T",
"hgvs_p": "p.Ile1620Ile",
"transcript": "ENST00000715549.1",
"protein_id": "ENSP00000520469.1",
"transcript_support_level": null,
"aa_start": 1620,
"aa_end": null,
"aa_length": 2343,
"cds_start": 4860,
"cds_end": null,
"cds_length": 7032,
"cdna_start": 5012,
"cdna_end": null,
"cdna_length": 9804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4848C>T",
"hgvs_p": "p.Ile1616Ile",
"transcript": "NM_001243812.2",
"protein_id": "NP_001230741.1",
"transcript_support_level": null,
"aa_start": 1616,
"aa_end": null,
"aa_length": 2237,
"cds_start": 4848,
"cds_end": null,
"cds_length": 6714,
"cdna_start": 5000,
"cdna_end": null,
"cdna_length": 9605,
"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": 35,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "n.*1562C>T",
"hgvs_p": null,
"transcript": "ENST00000715545.1",
"protein_id": "ENSP00000520465.1",
"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": 9881,
"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": 34,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "n.*3254C>T",
"hgvs_p": null,
"transcript": "ENST00000715546.1",
"protein_id": "ENSP00000520466.1",
"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": 9683,
"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": 34,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "n.*3264C>T",
"hgvs_p": null,
"transcript": "ENST00000715547.1",
"protein_id": "ENSP00000520467.1",
"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": 9753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "n.*1562C>T",
"hgvs_p": null,
"transcript": "ENST00000715545.1",
"protein_id": "ENSP00000520465.1",
"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": 9881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "n.*3254C>T",
"hgvs_p": null,
"transcript": "ENST00000715546.1",
"protein_id": "ENSP00000520466.1",
"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": 9683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "n.*3264C>T",
"hgvs_p": null,
"transcript": "ENST00000715547.1",
"protein_id": "ENSP00000520467.1",
"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": 9753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"dbsnp": "rs77664166",
"frequency_reference_population": 0.0034919232,
"hom_count_reference_population": 18,
"allele_count_reference_population": 5630,
"gnomad_exomes_af": 0.00355683,
"gnomad_genomes_af": 0.0028696,
"gnomad_exomes_ac": 5193,
"gnomad_genomes_ac": 437,
"gnomad_exomes_homalt": 17,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"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": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.226,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000371372.6",
"gene_symbol": "CACNA1B",
"hgnc_id": 1389,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4848C>T",
"hgvs_p": "p.Ile1616Ile"
}
],
"clinvar_disease": "CACNA1B-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "not specified|not provided|CACNA1B-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}