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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: 19-726146-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=726146&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 726146,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000338448.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM",
"gene_hgnc_id": 8594,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Ala5Gly",
"transcript": "NM_002579.3",
"protein_id": "NP_002570.2",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 387,
"cds_start": 14,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 2891,
"mane_select": "ENST00000338448.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM",
"gene_hgnc_id": 8594,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Ala5Gly",
"transcript": "ENST00000338448.10",
"protein_id": "ENSP00000341911.4",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 387,
"cds_start": 14,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 2891,
"mane_select": "NM_002579.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM",
"gene_hgnc_id": 8594,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Ala5Gly",
"transcript": "NM_001040134.2",
"protein_id": "NP_001035224.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 343,
"cds_start": 14,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM",
"gene_hgnc_id": 8594,
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Ala5Gly",
"transcript": "ENST00000264560.11",
"protein_id": "ENSP00000264560.7",
"transcript_support_level": 4,
"aa_start": 5,
"aa_end": null,
"aa_length": 343,
"cds_start": 14,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM",
"gene_hgnc_id": 8594,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Ala4Gly",
"transcript": "ENST00000586055.2",
"protein_id": "ENSP00000484090.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 11,
"cds_start": 11,
"cds_end": null,
"cds_length": 38,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM",
"gene_hgnc_id": 8594,
"hgvs_c": "c.20C>G",
"hgvs_p": "p.Ala7Gly",
"transcript": "XM_005259565.5",
"protein_id": "XP_005259622.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 389,
"cds_start": 20,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM",
"gene_hgnc_id": 8594,
"hgvs_c": "c.11C>G",
"hgvs_p": "p.Ala4Gly",
"transcript": "XM_005259566.5",
"protein_id": "XP_005259623.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 386,
"cds_start": 11,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM",
"gene_hgnc_id": 8594,
"hgvs_c": "c.20C>G",
"hgvs_p": "p.Ala7Gly",
"transcript": "XM_017026850.3",
"protein_id": "XP_016882339.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 345,
"cds_start": 20,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM",
"gene_hgnc_id": 8594,
"hgvs_c": "n.413C>G",
"hgvs_p": null,
"transcript": "ENST00000586776.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM",
"gene_hgnc_id": 8594,
"hgvs_c": "n.30C>G",
"hgvs_p": null,
"transcript": "ENST00000589012.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALM",
"gene_hgnc_id": 8594,
"hgvs_c": "n.64C>G",
"hgvs_p": null,
"transcript": "ENST00000592870.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PALM",
"gene_hgnc_id": 8594,
"dbsnp": "rs372771354",
"frequency_reference_population": 6.8474765e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84748e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03632313013076782,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.1287,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.891,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000338448.10",
"gene_symbol": "PALM",
"hgnc_id": 8594,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.14C>G",
"hgvs_p": "p.Ala5Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}