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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: 1-201043447-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201043447&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 201043447,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000069.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "c.4882C>T",
"hgvs_p": "p.Leu1628Phe",
"transcript": "NM_000069.3",
"protein_id": "NP_000060.2",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1873,
"cds_start": 4882,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000362061.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000069.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "c.4882C>T",
"hgvs_p": "p.Leu1628Phe",
"transcript": "ENST00000362061.4",
"protein_id": "ENSP00000355192.3",
"transcript_support_level": 1,
"aa_start": 1628,
"aa_end": null,
"aa_length": 1873,
"cds_start": 4882,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000069.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000362061.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "c.4825C>T",
"hgvs_p": "p.Leu1609Phe",
"transcript": "ENST00000367338.7",
"protein_id": "ENSP00000356307.3",
"transcript_support_level": 5,
"aa_start": 1609,
"aa_end": null,
"aa_length": 1854,
"cds_start": 4825,
"cds_end": null,
"cds_length": 5565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367338.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "c.4822C>T",
"hgvs_p": "p.Leu1608Phe",
"transcript": "ENST00000681874.1",
"protein_id": "ENSP00000505162.1",
"transcript_support_level": null,
"aa_start": 1608,
"aa_end": null,
"aa_length": 1853,
"cds_start": 4822,
"cds_end": null,
"cds_length": 5562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681874.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "c.4825C>T",
"hgvs_p": "p.Leu1609Phe",
"transcript": "XM_005245478.4",
"protein_id": "XP_005245535.1",
"transcript_support_level": null,
"aa_start": 1609,
"aa_end": null,
"aa_length": 1854,
"cds_start": 4825,
"cds_end": null,
"cds_length": 5565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245478.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.*4045C>T",
"hgvs_p": null,
"transcript": "ENST00000679417.1",
"protein_id": "ENSP00000506706.1",
"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": "ENST00000679417.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.2008C>T",
"hgvs_p": null,
"transcript": "ENST00000680051.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000680051.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.*2400C>T",
"hgvs_p": null,
"transcript": "ENST00000680059.1",
"protein_id": "ENSP00000504944.1",
"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": "ENST00000680059.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.*657C>T",
"hgvs_p": null,
"transcript": "ENST00000681078.1",
"protein_id": "ENSP00000506645.1",
"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": "ENST00000681078.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.*1064C>T",
"hgvs_p": null,
"transcript": "ENST00000681190.1",
"protein_id": "ENSP00000506428.1",
"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": "ENST00000681190.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.4882C>T",
"hgvs_p": null,
"transcript": "ENST00000713699.1",
"protein_id": "ENSP00000519003.1",
"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": "ENST00000713699.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.*4045C>T",
"hgvs_p": null,
"transcript": "ENST00000679417.1",
"protein_id": "ENSP00000506706.1",
"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": "ENST00000679417.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.*2400C>T",
"hgvs_p": null,
"transcript": "ENST00000680059.1",
"protein_id": "ENSP00000504944.1",
"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": "ENST00000680059.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.*657C>T",
"hgvs_p": null,
"transcript": "ENST00000681078.1",
"protein_id": "ENSP00000506645.1",
"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": "ENST00000681078.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.*1064C>T",
"hgvs_p": null,
"transcript": "ENST00000681190.1",
"protein_id": "ENSP00000506428.1",
"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": "ENST00000681190.1"
}
],
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"dbsnp": "rs200848930",
"frequency_reference_population": 0.00007806082,
"hom_count_reference_population": 0,
"allele_count_reference_population": 126,
"gnomad_exomes_af": 0.000082086,
"gnomad_genomes_af": 0.0000394104,
"gnomad_exomes_ac": 120,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4495314359664917,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.474,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6277,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.741,
"phylop100way_prediction": "Uncertain_significance",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_000069.3",
"gene_symbol": "CACNA1S",
"hgnc_id": 1397,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.4882C>T",
"hgvs_p": "p.Leu1628Phe"
}
],
"clinvar_disease": " 1, 5, susceptibility to, type 1,Congenital myopathy 18,Hypokalemic periodic paralysis,Malignant hyperthermia,Malignant hyperthermia of anesthesia,Thyrotoxic periodic paralysis,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:3",
"phenotype_combined": "Hypokalemic periodic paralysis|Malignant hyperthermia of anesthesia|Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5|not provided|Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1;Congenital myopathy 18;Thyrotoxic periodic paralysis, susceptibility to, 1",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}