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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: 9-138058108-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=138058108&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 138058108,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000718.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4166G>A",
"hgvs_p": "p.Arg1389His",
"transcript": "NM_000718.4",
"protein_id": "NP_000709.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 2339,
"cds_start": 4166,
"cds_end": null,
"cds_length": 7020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371372.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000718.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4166G>A",
"hgvs_p": "p.Arg1389His",
"transcript": "ENST00000371372.6",
"protein_id": "ENSP00000360423.1",
"transcript_support_level": 5,
"aa_start": 1389,
"aa_end": null,
"aa_length": 2339,
"cds_start": 4166,
"cds_end": null,
"cds_length": 7020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000718.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371372.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4169G>A",
"hgvs_p": "p.Arg1390His",
"transcript": "ENST00000371357.5",
"protein_id": "ENSP00000360408.1",
"transcript_support_level": 5,
"aa_start": 1390,
"aa_end": null,
"aa_length": 2338,
"cds_start": 4169,
"cds_end": null,
"cds_length": 7017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371357.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4166G>A",
"hgvs_p": "p.Arg1389His",
"transcript": "ENST00000371363.5",
"protein_id": "ENSP00000360414.1",
"transcript_support_level": 5,
"aa_start": 1389,
"aa_end": null,
"aa_length": 2337,
"cds_start": 4166,
"cds_end": null,
"cds_length": 7014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371363.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4166G>A",
"hgvs_p": "p.Arg1389His",
"transcript": "ENST00000277551.6",
"protein_id": "ENSP00000277551.2",
"transcript_support_level": 5,
"aa_start": 1389,
"aa_end": null,
"aa_length": 2237,
"cds_start": 4166,
"cds_end": null,
"cds_length": 6714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000277551.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4292G>A",
"hgvs_p": "p.Arg1431His",
"transcript": "ENST00000715548.1",
"protein_id": "ENSP00000520468.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2381,
"cds_start": 4292,
"cds_end": null,
"cds_length": 7146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715548.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4229G>A",
"hgvs_p": "p.Arg1410His",
"transcript": "ENST00000715544.1",
"protein_id": "ENSP00000520464.1",
"transcript_support_level": null,
"aa_start": 1410,
"aa_end": null,
"aa_length": 2360,
"cds_start": 4229,
"cds_end": null,
"cds_length": 7083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715544.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4178G>A",
"hgvs_p": "p.Arg1393His",
"transcript": "ENST00000715549.1",
"protein_id": "ENSP00000520469.1",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 2343,
"cds_start": 4178,
"cds_end": null,
"cds_length": 7032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715549.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4166G>A",
"hgvs_p": "p.Arg1389His",
"transcript": "ENST00000914236.1",
"protein_id": "ENSP00000584295.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 2276,
"cds_start": 4166,
"cds_end": null,
"cds_length": 6831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914236.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4169G>A",
"hgvs_p": "p.Arg1390His",
"transcript": "ENST00000914235.1",
"protein_id": "ENSP00000584294.1",
"transcript_support_level": null,
"aa_start": 1390,
"aa_end": null,
"aa_length": 2263,
"cds_start": 4169,
"cds_end": null,
"cds_length": 6792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914235.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "c.4166G>A",
"hgvs_p": "p.Arg1389His",
"transcript": "NM_001243812.2",
"protein_id": "NP_001230741.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 2237,
"cds_start": 4166,
"cds_end": null,
"cds_length": 6714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243812.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "n.*880G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000715545.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "n.*2572G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000715546.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "n.*2582G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000715547.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "n.*880G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000715545.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "n.*2572G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000715546.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"hgvs_c": "n.*2582G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000715547.1"
}
],
"gene_symbol": "CACNA1B",
"gene_hgnc_id": 1389,
"dbsnp": "rs184841813",
"frequency_reference_population": 0.00052734185,
"hom_count_reference_population": 1,
"allele_count_reference_population": 851,
"gnomad_exomes_af": 0.000535099,
"gnomad_genomes_af": 0.000452928,
"gnomad_exomes_ac": 782,
"gnomad_genomes_ac": 69,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4279289245605469,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.973,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7078,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.858,
"phylop100way_prediction": "Pathogenic",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6,BS1",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_000718.4",
"gene_symbol": "CACNA1B",
"hgnc_id": 1389,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4166G>A",
"hgvs_p": "p.Arg1389His"
}
],
"clinvar_disease": "Dystonia 23,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Dystonia 23|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}