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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: 10-46012928-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=46012928&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 46012928,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000581486.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Asp223Asp",
"transcript": "NM_001145263.2",
"protein_id": "NP_001138735.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 614,
"cds_start": 669,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 3461,
"mane_select": "ENST00000581486.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Asp223Asp",
"transcript": "ENST00000581486.6",
"protein_id": "ENSP00000462943.1",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 614,
"cds_start": 669,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 3461,
"mane_select": "NM_001145263.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.717C>T",
"hgvs_p": "p.Asp239Asp",
"transcript": "ENST00000578454.5",
"protein_id": "ENSP00000463027.1",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 650,
"cds_start": 717,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Asp223Asp",
"transcript": "ENST00000585132.5",
"protein_id": "ENSP00000464054.1",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 614,
"cds_start": 669,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 3489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.717C>T",
"hgvs_p": "p.Asp239Asp",
"transcript": "NM_001145260.2",
"protein_id": "NP_001138732.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 650,
"cds_start": 717,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.717C>T",
"hgvs_p": "p.Asp239Asp",
"transcript": "NM_001145261.2",
"protein_id": "NP_001138733.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 630,
"cds_start": 717,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.717C>T",
"hgvs_p": "p.Asp239Asp",
"transcript": "ENST00000579039.2",
"protein_id": "ENSP00000463455.1",
"transcript_support_level": 2,
"aa_start": 239,
"aa_end": null,
"aa_length": 630,
"cds_start": 717,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Asp223Asp",
"transcript": "NM_001145262.2",
"protein_id": "NP_001138734.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 614,
"cds_start": 669,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 4040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Asp223Asp",
"transcript": "NM_005437.4",
"protein_id": "NP_005428.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 614,
"cds_start": 669,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Asp223Asp",
"transcript": "ENST00000583565.5",
"protein_id": "ENSP00000463476.1",
"transcript_support_level": 2,
"aa_start": 223,
"aa_end": null,
"aa_length": 614,
"cds_start": 669,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.369C>T",
"hgvs_p": "p.Asp123Asp",
"transcript": "ENST00000585056.5",
"protein_id": "ENSP00000463022.1",
"transcript_support_level": 2,
"aa_start": 123,
"aa_end": null,
"aa_length": 514,
"cds_start": 369,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Asp57Asp",
"transcript": "ENST00000580070.5",
"protein_id": "ENSP00000462352.1",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 448,
"cds_start": 171,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NCOA4",
"gene_hgnc_id": 7671,
"dbsnp": "rs41306524",
"frequency_reference_population": 0.10270024,
"hom_count_reference_population": 8808,
"allele_count_reference_population": 165736,
"gnomad_exomes_af": 0.103929,
"gnomad_genomes_af": 0.0909043,
"gnomad_exomes_ac": 151898,
"gnomad_genomes_ac": 13838,
"gnomad_exomes_homalt": 8164,
"gnomad_genomes_homalt": 644,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4000000059604645,
"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": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.655,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000581486.6",
"gene_symbol": "NCOA4",
"hgnc_id": 7671,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.669C>T",
"hgvs_p": "p.Asp223Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}