← Back to variant description
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: 2-221443506-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=221443506&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 221443506,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000281821.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA4",
"gene_hgnc_id": 3388,
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Lys625Lys",
"transcript": "NM_004438.5",
"protein_id": "NP_004429.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 986,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 1931,
"cdna_end": null,
"cdna_length": 6362,
"mane_select": "ENST00000281821.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA4",
"gene_hgnc_id": 3388,
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Lys625Lys",
"transcript": "ENST00000281821.7",
"protein_id": "ENSP00000281821.2",
"transcript_support_level": 1,
"aa_start": 625,
"aa_end": null,
"aa_length": 986,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 1931,
"cdna_end": null,
"cdna_length": 6362,
"mane_select": "NM_004438.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA4",
"gene_hgnc_id": 3388,
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Lys625Lys",
"transcript": "ENST00000409854.5",
"protein_id": "ENSP00000386276.1",
"transcript_support_level": 1,
"aa_start": 625,
"aa_end": null,
"aa_length": 949,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 1910,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA4",
"gene_hgnc_id": 3388,
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Lys625Lys",
"transcript": "NM_001304536.2",
"protein_id": "NP_001291465.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 986,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 6581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA4",
"gene_hgnc_id": 3388,
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Lys625Lys",
"transcript": "ENST00000409938.5",
"protein_id": "ENSP00000386829.1",
"transcript_support_level": 2,
"aa_start": 625,
"aa_end": null,
"aa_length": 986,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 3363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA4",
"gene_hgnc_id": 3388,
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Lys625Lys",
"transcript": "NM_001363748.2",
"protein_id": "NP_001350677.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 949,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 1931,
"cdna_end": null,
"cdna_length": 6391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHA4",
"gene_hgnc_id": 3388,
"hgvs_c": "c.1722A>G",
"hgvs_p": "p.Lys574Lys",
"transcript": "NM_001304537.2",
"protein_id": "NP_001291466.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 935,
"cds_start": 1722,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 6294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EPHA4",
"gene_hgnc_id": 3388,
"dbsnp": "rs10498111",
"frequency_reference_population": 0.022679854,
"hom_count_reference_population": 1630,
"allele_count_reference_population": 36589,
"gnomad_exomes_af": 0.0192906,
"gnomad_genomes_af": 0.0552508,
"gnomad_exomes_ac": 28188,
"gnomad_genomes_ac": 8401,
"gnomad_exomes_homalt": 1167,
"gnomad_genomes_homalt": 463,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"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": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.203,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000281821.7",
"gene_symbol": "EPHA4",
"hgnc_id": 3388,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Lys625Lys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}