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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: 9-137877990-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137877990&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CACNA1B",
"hgnc_id": 1389,
"hgvs_c": "c.57G>A",
"hgvs_p": "p.Glu19Glu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_000718.4",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CACNA1B-AS2",
"hgnc_id": 58213,
"hgvs_c": "n.2692-2310C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000371390.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 171006,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "9",
"clinvar_classification": "Benign",
"clinvar_disease": "CACNA1B-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5400000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2339,
"aa_ref": "E",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9792,
"cdna_start": 209,
"cds_end": null,
"cds_length": 7020,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_000718.4",
"gene_hgnc_id": 1389,
"gene_symbol": "CACNA1B",
"hgvs_c": "c.57G>A",
"hgvs_p": "p.Glu19Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371372.6",
"protein_coding": true,
"protein_id": "NP_000709.1",
"strand": true,
"transcript": "NM_000718.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2339,
"aa_ref": "E",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9792,
"cdna_start": 209,
"cds_end": null,
"cds_length": 7020,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000371372.6",
"gene_hgnc_id": 1389,
"gene_symbol": "CACNA1B",
"hgvs_c": "c.57G>A",
"hgvs_p": "p.Glu19Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000718.4",
"protein_coding": true,
"protein_id": "ENSP00000360423.1",
"strand": true,
"transcript": "ENST00000371372.6",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2338,
"aa_ref": "E",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9642,
"cdna_start": 57,
"cds_end": null,
"cds_length": 7017,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000371357.5",
"gene_hgnc_id": 1389,
"gene_symbol": "CACNA1B",
"hgvs_c": "c.57G>A",
"hgvs_p": "p.Glu19Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360408.1",
"strand": true,
"transcript": "ENST00000371357.5",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2337,
"aa_ref": "E",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9758,
"cdna_start": 176,
"cds_end": null,
"cds_length": 7014,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000371363.5",
"gene_hgnc_id": 1389,
"gene_symbol": "CACNA1B",
"hgvs_c": "c.57G>A",
"hgvs_p": "p.Glu19Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360414.1",
"strand": true,
"transcript": "ENST00000371363.5",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2237,
"aa_ref": "E",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7158,
"cdna_start": 202,
"cds_end": null,
"cds_length": 6714,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000277551.6",
"gene_hgnc_id": 1389,
"gene_symbol": "CACNA1B",
"hgvs_c": "c.57G>A",
"hgvs_p": "p.Glu19Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000277551.2",
"strand": true,
"transcript": "ENST00000277551.6",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2381,
"aa_ref": "E",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9918,
"cdna_start": 209,
"cds_end": null,
"cds_length": 7146,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000715548.1",
"gene_hgnc_id": 1389,
"gene_symbol": "CACNA1B",
"hgvs_c": "c.57G>A",
"hgvs_p": "p.Glu19Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520468.1",
"strand": true,
"transcript": "ENST00000715548.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2360,
"aa_ref": "E",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9855,
"cdna_start": 209,
"cds_end": null,
"cds_length": 7083,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000715544.1",
"gene_hgnc_id": 1389,
"gene_symbol": "CACNA1B",
"hgvs_c": "c.57G>A",
"hgvs_p": "p.Glu19Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520464.1",
"strand": true,
"transcript": "ENST00000715544.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2343,
"aa_ref": "E",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9804,
"cdna_start": 209,
"cds_end": null,
"cds_length": 7032,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000715549.1",
"gene_hgnc_id": 1389,
"gene_symbol": "CACNA1B",
"hgvs_c": "c.57G>A",
"hgvs_p": "p.Glu19Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520469.1",
"strand": true,
"transcript": "ENST00000715549.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2276,
"aa_ref": "E",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7156,
"cdna_start": 196,
"cds_end": null,
"cds_length": 6831,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000914236.1",
"gene_hgnc_id": 1389,
"gene_symbol": "CACNA1B",
"hgvs_c": "c.57G>A",
"hgvs_p": "p.Glu19Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584295.1",
"strand": true,
"transcript": "ENST00000914236.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2263,
"aa_ref": "E",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7130,
"cdna_start": 209,
"cds_end": null,
"cds_length": 6792,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000914235.1",
"gene_hgnc_id": 1389,
"gene_symbol": "CACNA1B",
"hgvs_c": "c.57G>A",
"hgvs_p": "p.Glu19Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584294.1",
"strand": true,
"transcript": "ENST00000914235.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2237,
"aa_ref": "E",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9605,
"cdna_start": 209,
"cds_end": null,
"cds_length": 6714,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001243812.2",
"gene_hgnc_id": 1389,
"gene_symbol": "CACNA1B",
"hgvs_c": "c.57G>A",
"hgvs_p": "p.Glu19Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230741.1",
"strand": true,
"transcript": "NM_001243812.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9881,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 48,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000715545.1",
"gene_hgnc_id": 1389,
"gene_symbol": "CACNA1B",
"hgvs_c": "n.57G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000520465.1",
"strand": true,
"transcript": "ENST00000715545.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9683,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 47,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000715546.1",
"gene_hgnc_id": 1389,
"gene_symbol": "CACNA1B",
"hgvs_c": "n.57G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000520466.1",
"strand": true,
"transcript": "ENST00000715546.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9753,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 47,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000715547.1",
"gene_hgnc_id": 1389,
"gene_symbol": "CACNA1B",
"hgvs_c": "n.57G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000520467.1",
"strand": true,
"transcript": "ENST00000715547.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3222,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000371390.1",
"gene_hgnc_id": 58213,
"gene_symbol": "CACNA1B-AS2",
"hgvs_c": "n.2692-2310C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000371390.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3222,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_121583.1",
"gene_hgnc_id": 58213,
"gene_symbol": "CACNA1B-AS2",
"hgvs_c": "n.2692-2310C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_121583.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs191962352",
"effect": "synonymous_variant",
"frequency_reference_population": 0.14845121,
"gene_hgnc_id": 1389,
"gene_symbol": "CACNA1B",
"gnomad_exomes_ac": 153455,
"gnomad_exomes_af": 0.153008,
"gnomad_exomes_homalt": 1952,
"gnomad_genomes_ac": 17551,
"gnomad_genomes_af": 0.117782,
"gnomad_genomes_homalt": 621,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 2573,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided|CACNA1B-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.042,
"pos": 137877990,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000718.4"
}
]
}