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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: 2-9455693-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=9455693&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 9455693,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001321836.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Gln513Gln",
"transcript": "NM_016207.4",
"protein_id": "NP_057291.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 684,
"cds_start": 1539,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": "ENST00000238112.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016207.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1539G>A",
"hgvs_p": "p.Gln513Gln",
"transcript": "ENST00000238112.8",
"protein_id": "ENSP00000238112.3",
"transcript_support_level": 1,
"aa_start": 513,
"aa_end": null,
"aa_length": 684,
"cds_start": 1539,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": "NM_016207.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000238112.8"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1428G>A",
"hgvs_p": "p.Gln476Gln",
"transcript": "ENST00000460593.1",
"protein_id": "ENSP00000418957.1",
"transcript_support_level": 1,
"aa_start": 476,
"aa_end": null,
"aa_length": 647,
"cds_start": 1428,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 2566,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460593.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1623G>A",
"hgvs_p": "p.Gln541Gln",
"transcript": "ENST00000882814.1",
"protein_id": "ENSP00000552873.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 712,
"cds_start": 1623,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882814.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1551G>A",
"hgvs_p": "p.Gln517Gln",
"transcript": "NM_001321836.2",
"protein_id": "NP_001308765.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 688,
"cds_start": 1551,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321836.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1551G>A",
"hgvs_p": "p.Gln517Gln",
"transcript": "ENST00000947880.1",
"protein_id": "ENSP00000617939.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 688,
"cds_start": 1551,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 2270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947880.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1428G>A",
"hgvs_p": "p.Gln476Gln",
"transcript": "NM_001321833.2",
"protein_id": "NP_001308762.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 647,
"cds_start": 1428,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321833.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1428G>A",
"hgvs_p": "p.Gln476Gln",
"transcript": "NM_001321834.2",
"protein_id": "NP_001308763.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 647,
"cds_start": 1428,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 2796,
"cdna_end": null,
"cdna_length": 3396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321834.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1410G>A",
"hgvs_p": "p.Gln470Gln",
"transcript": "ENST00000921419.1",
"protein_id": "ENSP00000591478.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 641,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921419.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1392G>A",
"hgvs_p": "p.Gln464Gln",
"transcript": "ENST00000921418.1",
"protein_id": "ENSP00000591477.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 635,
"cds_start": 1392,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1535,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921418.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1386G>A",
"hgvs_p": "p.Gln462Gln",
"transcript": "ENST00000882813.1",
"protein_id": "ENSP00000552872.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 633,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882813.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1380G>A",
"hgvs_p": "p.Gln460Gln",
"transcript": "ENST00000921420.1",
"protein_id": "ENSP00000591479.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 631,
"cds_start": 1380,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921420.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Gln374Gln",
"transcript": "NM_001321835.2",
"protein_id": "NP_001308764.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 545,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321835.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"hgvs_c": "c.1509G>A",
"hgvs_p": "p.Gln503Gln",
"transcript": "XM_047444745.1",
"protein_id": "XP_047300701.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 674,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444745.1"
}
],
"gene_symbol": "CPSF3",
"gene_hgnc_id": 2326,
"dbsnp": "rs149304917",
"frequency_reference_population": 0.0004981036,
"hom_count_reference_population": 2,
"allele_count_reference_population": 804,
"gnomad_exomes_af": 0.000316735,
"gnomad_genomes_af": 0.00223856,
"gnomad_exomes_ac": 463,
"gnomad_genomes_ac": 341,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"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": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.576,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001321836.2",
"gene_symbol": "CPSF3",
"hgnc_id": 2326,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1551G>A",
"hgvs_p": "p.Gln517Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}