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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: 17-8143435-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8143435&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PER1",
"hgnc_id": 8845,
"hgvs_c": "c.2903G>A",
"hgvs_p": "p.Arg968His",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_002616.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 34,
"alphamissense_prediction": null,
"alphamissense_score": 0.0597,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.027448296546936035,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "R",
"aa_start": 968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4676,
"cdna_start": 3110,
"cds_end": null,
"cds_length": 3873,
"cds_start": 2903,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_002616.3",
"gene_hgnc_id": 8845,
"gene_symbol": "PER1",
"hgvs_c": "c.2903G>A",
"hgvs_p": "p.Arg968His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000317276.9",
"protein_coding": true,
"protein_id": "NP_002607.2",
"strand": false,
"transcript": "NM_002616.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "R",
"aa_start": 968,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4676,
"cdna_start": 3110,
"cds_end": null,
"cds_length": 3873,
"cds_start": 2903,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000317276.9",
"gene_hgnc_id": 8845,
"gene_symbol": "PER1",
"hgvs_c": "c.2903G>A",
"hgvs_p": "p.Arg968His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002616.3",
"protein_coding": true,
"protein_id": "ENSP00000314420.4",
"strand": false,
"transcript": "ENST00000317276.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "R",
"aa_start": 968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4667,
"cdna_start": 3096,
"cds_end": null,
"cds_length": 3873,
"cds_start": 2903,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000857860.1",
"gene_hgnc_id": 8845,
"gene_symbol": "PER1",
"hgvs_c": "c.2903G>A",
"hgvs_p": "p.Arg968His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527919.1",
"strand": false,
"transcript": "ENST00000857860.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1289,
"aa_ref": "R",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4659,
"cdna_start": 3093,
"cds_end": null,
"cds_length": 3870,
"cds_start": 2900,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000857861.1",
"gene_hgnc_id": 8845,
"gene_symbol": "PER1",
"hgvs_c": "c.2900G>A",
"hgvs_p": "p.Arg967His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527920.1",
"strand": false,
"transcript": "ENST00000857861.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1289,
"aa_ref": "R",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4650,
"cdna_start": 3088,
"cds_end": null,
"cds_length": 3870,
"cds_start": 2900,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000857865.1",
"gene_hgnc_id": 8845,
"gene_symbol": "PER1",
"hgvs_c": "c.2900G>A",
"hgvs_p": "p.Arg967His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527924.1",
"strand": false,
"transcript": "ENST00000857865.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "R",
"aa_start": 966,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4625,
"cdna_start": 3059,
"cds_end": null,
"cds_length": 3867,
"cds_start": 2897,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000857863.1",
"gene_hgnc_id": 8845,
"gene_symbol": "PER1",
"hgvs_c": "c.2897G>A",
"hgvs_p": "p.Arg966His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527922.1",
"strand": false,
"transcript": "ENST00000857863.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1267,
"aa_ref": "R",
"aa_start": 945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4531,
"cdna_start": 2960,
"cds_end": null,
"cds_length": 3804,
"cds_start": 2834,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000581082.6",
"gene_hgnc_id": 8845,
"gene_symbol": "PER1",
"hgvs_c": "c.2834G>A",
"hgvs_p": "p.Arg945His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462064.1",
"strand": false,
"transcript": "ENST00000581082.6",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "R",
"aa_start": 908,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4454,
"cdna_start": 2885,
"cds_end": null,
"cds_length": 3693,
"cds_start": 2723,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000857862.1",
"gene_hgnc_id": 8845,
"gene_symbol": "PER1",
"hgvs_c": "c.2723G>A",
"hgvs_p": "p.Arg908His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527921.1",
"strand": false,
"transcript": "ENST00000857862.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1225,
"aa_ref": "R",
"aa_start": 903,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4433,
"cdna_start": 2868,
"cds_end": null,
"cds_length": 3678,
"cds_start": 2708,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000929275.1",
"gene_hgnc_id": 8845,
"gene_symbol": "PER1",
"hgvs_c": "c.2708G>A",
"hgvs_p": "p.Arg903His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599334.1",
"strand": false,
"transcript": "ENST00000929275.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "R",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4319,
"cdna_start": 2754,
"cds_end": null,
"cds_length": 3390,
"cds_start": 2420,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000857864.1",
"gene_hgnc_id": 8845,
"gene_symbol": "PER1",
"hgvs_c": "c.2420G>A",
"hgvs_p": "p.Arg807His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527923.1",
"strand": false,
"transcript": "ENST00000857864.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6864,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000585095.2",
"gene_hgnc_id": 8845,
"gene_symbol": "PER1",
"hgvs_c": "n.3896G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000585095.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3677,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000582719.5",
"gene_hgnc_id": 8845,
"gene_symbol": "PER1",
"hgvs_c": "n.2462-600G>A",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463054.1",
"strand": false,
"transcript": "ENST00000582719.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 367,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000579098.1",
"gene_hgnc_id": 8845,
"gene_symbol": "PER1",
"hgvs_c": "n.-91G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000579098.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 830,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000578089.1",
"gene_hgnc_id": 8845,
"gene_symbol": "PER1",
"hgvs_c": "n.*6G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000578089.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs3027193",
"effect": "missense_variant",
"frequency_reference_population": 0.000021117934,
"gene_hgnc_id": 8845,
"gene_symbol": "PER1",
"gnomad_exomes_ac": 20,
"gnomad_exomes_af": 0.0000137127,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 14,
"gnomad_genomes_af": 0.000092408,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.599,
"pos": 8143435,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.015,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05000000074505806,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.05,
"transcript": "NM_002616.3"
}
]
}