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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: 1-6441006-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6441006&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6441006,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000645284.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Leu311Leu",
"transcript": "NM_031475.3",
"protein_id": "NP_113663.2",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 854,
"cds_start": 931,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": "ENST00000645284.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Leu311Leu",
"transcript": "ENST00000645284.1",
"protein_id": "ENSP00000496593.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 854,
"cds_start": 931,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": "NM_031475.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Leu311Leu",
"transcript": "ENST00000636330.1",
"protein_id": "ENSP00000490186.1",
"transcript_support_level": 5,
"aa_start": 311,
"aa_end": null,
"aa_length": 1362,
"cds_start": 931,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 4731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Leu311Leu",
"transcript": "NM_001367474.1",
"protein_id": "NP_001354403.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 833,
"cds_start": 931,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Leu311Leu",
"transcript": "NM_001367473.1",
"protein_id": "NP_001354402.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 824,
"cds_start": 931,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Leu96Leu",
"transcript": "ENST00000418286.1",
"protein_id": "ENSP00000401793.1",
"transcript_support_level": 3,
"aa_start": 96,
"aa_end": null,
"aa_length": 212,
"cds_start": 286,
"cds_end": null,
"cds_length": 641,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Leu311Leu",
"transcript": "XM_011542231.1",
"protein_id": "XP_011540533.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1341,
"cds_start": 931,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 4680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Leu311Leu",
"transcript": "XM_011542232.1",
"protein_id": "XP_011540534.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 1332,
"cds_start": 931,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.313C>T",
"hgvs_p": "p.Leu105Leu",
"transcript": "XM_011542233.3",
"protein_id": "XP_011540535.2",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 1135,
"cds_start": 313,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 4103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Leu311Leu",
"transcript": "XM_017002433.2",
"protein_id": "XP_016857922.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 823,
"cds_start": 931,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Leu311Leu",
"transcript": "XM_011542237.1",
"protein_id": "XP_011540539.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 527,
"cds_start": 931,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Leu311Leu",
"transcript": "XM_011542238.4",
"protein_id": "XP_011540540.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 517,
"cds_start": 931,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "n.*184C>T",
"hgvs_p": null,
"transcript": "ENST00000632142.1",
"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": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "n.*209C>T",
"hgvs_p": null,
"transcript": "ENST00000633651.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"dbsnp": "rs766939513",
"frequency_reference_population": 0.000007544416,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000754442,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3799999952316284,
"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": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.871,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000645284.1",
"gene_symbol": "ESPN",
"hgnc_id": 13281,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Leu311Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}