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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: 1-171278760-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=171278760&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 171278760,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001282692.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"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": "FMO1",
"gene_hgnc_id": 3769,
"hgvs_c": "c.516T>C",
"hgvs_p": "p.His172His",
"transcript": "NM_001282693.2",
"protein_id": "NP_001269622.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 532,
"cds_start": 516,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000617670.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282693.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"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": "FMO1",
"gene_hgnc_id": 3769,
"hgvs_c": "c.516T>C",
"hgvs_p": "p.His172His",
"transcript": "ENST00000617670.6",
"protein_id": "ENSP00000481732.1",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 532,
"cds_start": 516,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001282693.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617670.6"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO1",
"gene_hgnc_id": 3769,
"hgvs_c": "c.516T>C",
"hgvs_p": "p.His172His",
"transcript": "ENST00000354841.4",
"protein_id": "ENSP00000346901.4",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 532,
"cds_start": 516,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354841.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"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": "FMO1",
"gene_hgnc_id": 3769,
"hgvs_c": "c.516T>C",
"hgvs_p": "p.His172His",
"transcript": "ENST00000367750.7",
"protein_id": "ENSP00000356724.3",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 532,
"cds_start": 516,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367750.7"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO1",
"gene_hgnc_id": 3769,
"hgvs_c": "c.528T>C",
"hgvs_p": "p.His176His",
"transcript": "NM_001282692.1",
"protein_id": "NP_001269621.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 536,
"cds_start": 528,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282692.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"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": "FMO1",
"gene_hgnc_id": 3769,
"hgvs_c": "c.516T>C",
"hgvs_p": "p.His172His",
"transcript": "NM_002021.3",
"protein_id": "NP_002012.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 532,
"cds_start": 516,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002021.3"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO1",
"gene_hgnc_id": 3769,
"hgvs_c": "c.327T>C",
"hgvs_p": "p.His109His",
"transcript": "NM_001282694.2",
"protein_id": "NP_001269623.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 469,
"cds_start": 327,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282694.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO1",
"gene_hgnc_id": 3769,
"hgvs_c": "c.327T>C",
"hgvs_p": "p.His109His",
"transcript": "ENST00000402921.6",
"protein_id": "ENSP00000385543.2",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 469,
"cds_start": 327,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402921.6"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO1",
"gene_hgnc_id": 3769,
"hgvs_c": "c.516T>C",
"hgvs_p": "p.His172His",
"transcript": "XM_006711241.5",
"protein_id": "XP_006711304.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 497,
"cds_start": 516,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711241.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO1",
"gene_hgnc_id": 3769,
"hgvs_c": "c.228T>C",
"hgvs_p": "p.His76His",
"transcript": "XM_005245037.4",
"protein_id": "XP_005245094.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 436,
"cds_start": 228,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245037.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"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": "FMO1",
"gene_hgnc_id": 3769,
"hgvs_c": "c.516T>C",
"hgvs_p": "p.His172His",
"transcript": "XM_006711242.5",
"protein_id": "XP_006711305.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 418,
"cds_start": 516,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711242.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"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": "FMO1",
"gene_hgnc_id": 3769,
"hgvs_c": "c.516T>C",
"hgvs_p": "p.His172His",
"transcript": "XM_005245038.5",
"protein_id": "XP_005245095.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 411,
"cds_start": 516,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245038.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO1",
"gene_hgnc_id": 3769,
"hgvs_c": "n.*304T>C",
"hgvs_p": null,
"transcript": "ENST00000469112.5",
"protein_id": "ENSP00000491035.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000469112.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO1",
"gene_hgnc_id": 3769,
"hgvs_c": "n.195T>C",
"hgvs_p": null,
"transcript": "ENST00000472893.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000472893.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FMO1",
"gene_hgnc_id": 3769,
"hgvs_c": "n.*304T>C",
"hgvs_p": null,
"transcript": "ENST00000469112.5",
"protein_id": "ENSP00000491035.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000469112.5"
}
],
"gene_symbol": "FMO1",
"gene_hgnc_id": 3769,
"dbsnp": "rs145849541",
"frequency_reference_population": 0.0008672612,
"hom_count_reference_population": 23,
"allele_count_reference_population": 1397,
"gnomad_exomes_af": 0.000916032,
"gnomad_genomes_af": 0.000400383,
"gnomad_exomes_ac": 1336,
"gnomad_genomes_ac": 61,
"gnomad_exomes_homalt": 23,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"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": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.101,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001282692.1",
"gene_symbol": "FMO1",
"hgnc_id": 3769,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.528T>C",
"hgvs_p": "p.His176His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}