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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: 1-240207667-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=240207667&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 240207667,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000319653.14",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.2855C>G",
"hgvs_p": "p.Ala952Gly",
"transcript": "NM_020066.5",
"protein_id": "NP_064450.3",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1722,
"cds_start": 2855,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 3082,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": "ENST00000319653.14",
"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": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.2855C>G",
"hgvs_p": "p.Ala952Gly",
"transcript": "ENST00000319653.14",
"protein_id": "ENSP00000318884.9",
"transcript_support_level": 5,
"aa_start": 952,
"aa_end": null,
"aa_length": 1722,
"cds_start": 2855,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 3082,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": "NM_020066.5",
"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": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.2867C>G",
"hgvs_p": "p.Ala956Gly",
"transcript": "NM_001305424.2",
"protein_id": "NP_001292353.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1726,
"cds_start": 2867,
"cds_end": null,
"cds_length": 5181,
"cdna_start": 3094,
"cdna_end": null,
"cdna_length": 6441,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.2867C>G",
"hgvs_p": "p.Ala956Gly",
"transcript": "XM_017001837.2",
"protein_id": "XP_016857326.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1417,
"cds_start": 2867,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3094,
"cdna_end": null,
"cdna_length": 4553,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.2867C>G",
"hgvs_p": "p.Ala956Gly",
"transcript": "XM_017001838.2",
"protein_id": "XP_016857327.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1384,
"cds_start": 2867,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 3094,
"cdna_end": null,
"cdna_length": 4467,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.2867C>G",
"hgvs_p": "p.Ala956Gly",
"transcript": "XM_011544237.4",
"protein_id": "XP_011542539.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1360,
"cds_start": 2867,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 3094,
"cdna_end": null,
"cdna_length": 5838,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.2855C>G",
"hgvs_p": "p.Ala952Gly",
"transcript": "XM_047425620.1",
"protein_id": "XP_047281576.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1356,
"cds_start": 2855,
"cds_end": null,
"cds_length": 4071,
"cdna_start": 3082,
"cdna_end": null,
"cdna_length": 5826,
"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": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.995C>G",
"hgvs_p": "p.Ala332Gly",
"transcript": "XM_017001840.3",
"protein_id": "XP_016857329.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1102,
"cds_start": 995,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 4679,
"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": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.995C>G",
"hgvs_p": "p.Ala332Gly",
"transcript": "XM_017001841.3",
"protein_id": "XP_016857330.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1102,
"cds_start": 995,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 5137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.1986+19405C>G",
"hgvs_p": null,
"transcript": "NM_001348094.2",
"protein_id": "NP_001335023.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 998,
"cds_start": -4,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.188+675C>G",
"hgvs_p": null,
"transcript": "ENST00000679980.1",
"protein_id": "ENSP00000505449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.285+19405C>G",
"hgvs_p": null,
"transcript": "ENST00000681210.1",
"protein_id": "ENSP00000505131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": -4,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.285+19405C>G",
"hgvs_p": null,
"transcript": "ENST00000681824.1",
"protein_id": "ENSP00000505818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": -4,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "c.54+19405C>G",
"hgvs_p": null,
"transcript": "ENST00000545751.3",
"protein_id": "ENSP00000437918.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"hgvs_c": "n.286-3424C>G",
"hgvs_p": null,
"transcript": "ENST00000681741.1",
"protein_id": "ENSP00000505116.1",
"transcript_support_level": null,
"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": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FMN2",
"gene_hgnc_id": 14074,
"dbsnp": "rs200503778",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.00631843,
"gnomad_genomes_af": 0.00643487,
"gnomad_exomes_ac": 7100,
"gnomad_genomes_ac": 372,
"gnomad_exomes_homalt": 202,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005420178174972534,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.0561,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.132,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000319653.14",
"gene_symbol": "FMN2",
"hgnc_id": 14074,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2855C>G",
"hgvs_p": "p.Ala952Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}