← 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: 5-140548907-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=140548907&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 140548907,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_020690.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKHD1-EIF4EBP3",
"gene_hgnc_id": 33530,
"hgvs_c": "c.7681C>A",
"hgvs_p": "p.His2561Asn",
"transcript": "ENST00000532219.5",
"protein_id": "ENSP00000432016.1",
"transcript_support_level": 2,
"aa_start": 2561,
"aa_end": null,
"aa_length": 2617,
"cds_start": 7681,
"cds_end": null,
"cds_length": 7854,
"cdna_start": 7741,
"cdna_end": null,
"cdna_length": 8246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532219.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4EBP3",
"gene_hgnc_id": 3290,
"hgvs_c": "c.105C>A",
"hgvs_p": "p.Gly35Gly",
"transcript": "NM_003732.3",
"protein_id": "NP_003723.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 100,
"cds_start": 105,
"cds_end": null,
"cds_length": 303,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 693,
"mane_select": "ENST00000310331.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003732.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4EBP3",
"gene_hgnc_id": 3290,
"hgvs_c": "c.105C>A",
"hgvs_p": "p.Gly35Gly",
"transcript": "ENST00000310331.3",
"protein_id": "ENSP00000308472.2",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 100,
"cds_start": 105,
"cds_end": null,
"cds_length": 303,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 693,
"mane_select": "NM_003732.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310331.3"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKHD1-EIF4EBP3",
"gene_hgnc_id": 33530,
"hgvs_c": "c.7681C>A",
"hgvs_p": "p.His2561Asn",
"transcript": "NM_020690.6",
"protein_id": "NP_065741.3",
"transcript_support_level": null,
"aa_start": 2561,
"aa_end": null,
"aa_length": 2617,
"cds_start": 7681,
"cds_end": null,
"cds_length": 7854,
"cdna_start": 7816,
"cdna_end": null,
"cdna_length": 8328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020690.6"
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKHD1-EIF4EBP3",
"gene_hgnc_id": 33530,
"hgvs_c": "c.1738C>A",
"hgvs_p": "p.His580Asn",
"transcript": "ENST00000437495.1",
"protein_id": "ENSP00000396882.1",
"transcript_support_level": 5,
"aa_start": 580,
"aa_end": null,
"aa_length": 636,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437495.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SRA1",
"gene_hgnc_id": 11281,
"hgvs_c": "c.138+1934G>T",
"hgvs_p": null,
"transcript": "ENST00000602657.1",
"protein_id": "ENSP00000473378.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": null,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602657.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKHD1-EIF4EBP3",
"gene_hgnc_id": 33530,
"hgvs_c": "n.4941C>A",
"hgvs_p": null,
"transcript": "ENST00000474060.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 5446,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474060.1"
}
],
"gene_symbol": "ANKHD1-EIF4EBP3",
"gene_hgnc_id": 33530,
"dbsnp": "rs757813931",
"frequency_reference_population": 0.000019224448,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000178036,
"gnomad_genomes_af": 0.0000328623,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.052758365869522095,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7960000038146973,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.137,
"revel_prediction": "Benign",
"alphamissense_score": 0.087,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.098,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.987344009665862,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020690.6",
"gene_symbol": "ANKHD1-EIF4EBP3",
"hgnc_id": 33530,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.7681C>A",
"hgvs_p": "p.His2561Asn"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003732.3",
"gene_symbol": "EIF4EBP3",
"hgnc_id": 3290,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.105C>A",
"hgvs_p": "p.Gly35Gly"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000602657.1",
"gene_symbol": "SRA1",
"hgnc_id": 11281,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.138+1934G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}