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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: 15-43211512-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43211512&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 43211512,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000441366.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB42",
"gene_hgnc_id": 3381,
"hgvs_c": "c.453T>C",
"hgvs_p": "p.Asn151Asn",
"transcript": "NM_001114134.2",
"protein_id": "NP_001107606.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 691,
"cds_start": 453,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": "ENST00000441366.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB42",
"gene_hgnc_id": 3381,
"hgvs_c": "c.453T>C",
"hgvs_p": "p.Asn151Asn",
"transcript": "ENST00000441366.7",
"protein_id": "ENSP00000396616.2",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 691,
"cds_start": 453,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": "NM_001114134.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB42",
"gene_hgnc_id": 3381,
"hgvs_c": "c.543T>C",
"hgvs_p": "p.Asn181Asn",
"transcript": "NM_000119.3",
"protein_id": "NP_000110.2",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 721,
"cds_start": 543,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB42",
"gene_hgnc_id": 3381,
"hgvs_c": "c.543T>C",
"hgvs_p": "p.Asn181Asn",
"transcript": "ENST00000648595.1",
"protein_id": "ENSP00000497777.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 721,
"cds_start": 543,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB42",
"gene_hgnc_id": 3381,
"hgvs_c": "c.219T>C",
"hgvs_p": "p.Asn73Asn",
"transcript": "ENST00000540029.5",
"protein_id": "ENSP00000444699.1",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 613,
"cds_start": 219,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB42",
"gene_hgnc_id": 3381,
"hgvs_c": "c.117T>C",
"hgvs_p": "p.Asn39Asn",
"transcript": "ENST00000569204.1",
"protein_id": "ENSP00000455489.1",
"transcript_support_level": 3,
"aa_start": 39,
"aa_end": null,
"aa_length": 190,
"cds_start": 117,
"cds_end": null,
"cds_length": 574,
"cdna_start": 117,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB42",
"gene_hgnc_id": 3381,
"hgvs_c": "c.543T>C",
"hgvs_p": "p.Asn181Asn",
"transcript": "XM_011521350.3",
"protein_id": "XP_011519652.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 721,
"cds_start": 543,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB42",
"gene_hgnc_id": 3381,
"hgvs_c": "c.543T>C",
"hgvs_p": "p.Asn181Asn",
"transcript": "XM_011521351.3",
"protein_id": "XP_011519653.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 721,
"cds_start": 543,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 2744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB42",
"gene_hgnc_id": 3381,
"hgvs_c": "c.507T>C",
"hgvs_p": "p.Asn169Asn",
"transcript": "XM_011521352.3",
"protein_id": "XP_011519654.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 709,
"cds_start": 507,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB42",
"gene_hgnc_id": 3381,
"hgvs_c": "c.543T>C",
"hgvs_p": "p.Asn181Asn",
"transcript": "XM_011521353.3",
"protein_id": "XP_011519655.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 686,
"cds_start": 543,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB42",
"gene_hgnc_id": 3381,
"hgvs_c": "c.453T>C",
"hgvs_p": "p.Asn151Asn",
"transcript": "XM_005254225.2",
"protein_id": "XP_005254282.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 656,
"cds_start": 453,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 2239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB42",
"gene_hgnc_id": 3381,
"hgvs_c": "c.-13T>C",
"hgvs_p": null,
"transcript": "XM_011521354.2",
"protein_id": "XP_011519656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EPB42",
"gene_hgnc_id": 3381,
"dbsnp": "rs114136713",
"frequency_reference_population": 0.00087077974,
"hom_count_reference_population": 6,
"allele_count_reference_population": 1404,
"gnomad_exomes_af": 0.000753418,
"gnomad_genomes_af": 0.00199559,
"gnomad_exomes_ac": 1100,
"gnomad_genomes_ac": 304,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7599999904632568,
"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": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.37,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000441366.7",
"gene_symbol": "EPB42",
"hgnc_id": 3381,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.453T>C",
"hgvs_p": "p.Asn151Asn"
}
],
"clinvar_disease": "Hereditary spherocytosis type 5,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:1",
"phenotype_combined": "not specified|Hereditary spherocytosis type 5|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}