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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: 8-67624235-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=67624235&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 67624235,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020361.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA6",
"gene_hgnc_id": 17245,
"hgvs_c": "c.133T>C",
"hgvs_p": "p.Phe45Leu",
"transcript": "NM_020361.5",
"protein_id": "NP_065094.3",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 437,
"cds_start": 133,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297770.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020361.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA6",
"gene_hgnc_id": 17245,
"hgvs_c": "c.133T>C",
"hgvs_p": "p.Phe45Leu",
"transcript": "ENST00000297770.10",
"protein_id": "ENSP00000297770.4",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 437,
"cds_start": 133,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020361.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297770.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA6",
"gene_hgnc_id": 17245,
"hgvs_c": "n.133T>C",
"hgvs_p": null,
"transcript": "ENST00000479862.6",
"protein_id": "ENSP00000419016.2",
"transcript_support_level": 1,
"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": "ENST00000479862.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA6",
"gene_hgnc_id": 17245,
"hgvs_c": "n.347T>C",
"hgvs_p": null,
"transcript": "ENST00000518549.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000518549.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA6",
"gene_hgnc_id": 17245,
"hgvs_c": "c.133T>C",
"hgvs_p": "p.Phe45Leu",
"transcript": "ENST00000956854.1",
"protein_id": "ENSP00000626913.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 468,
"cds_start": 133,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956854.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA6",
"gene_hgnc_id": 17245,
"hgvs_c": "c.133T>C",
"hgvs_p": "p.Phe45Leu",
"transcript": "NM_001440615.1",
"protein_id": "NP_001427544.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 247,
"cds_start": 133,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440615.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA6",
"gene_hgnc_id": 17245,
"hgvs_c": "c.-187T>C",
"hgvs_p": null,
"transcript": "XM_017013646.2",
"protein_id": "XP_016869135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013646.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPA6",
"gene_hgnc_id": 17245,
"hgvs_c": "n.133T>C",
"hgvs_p": null,
"transcript": "ENST00000638254.1",
"protein_id": "ENSP00000491129.1",
"transcript_support_level": 5,
"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": "ENST00000638254.1"
}
],
"gene_symbol": "CPA6",
"gene_hgnc_id": 17245,
"dbsnp": "rs10957393",
"frequency_reference_population": 0.23208214,
"hom_count_reference_population": 42491,
"allele_count_reference_population": 350723,
"gnomad_exomes_af": 0.229417,
"gnomad_genomes_af": 0.255898,
"gnomad_exomes_ac": 311803,
"gnomad_genomes_ac": 38920,
"gnomad_exomes_homalt": 37310,
"gnomad_genomes_homalt": 5181,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004437178373336792,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.3053,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.05,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_020361.5",
"gene_symbol": "CPA6",
"hgnc_id": 17245,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.133T>C",
"hgvs_p": "p.Phe45Leu"
}
],
"clinvar_disease": " 11, familial,Familial temporal lobe epilepsy 5,Febrile seizures,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Familial temporal lobe epilepsy 5|Febrile seizures, familial, 11|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}