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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: 14-51608935-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=51608935&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 51608935,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001042481.3",
"consequences": [
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-147+38525A>C",
"hgvs_p": null,
"transcript": "ENST00000356218.8",
"protein_id": "ENSP00000348550.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4768,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-147+38525A>C",
"hgvs_p": null,
"transcript": "NM_001042481.3",
"protein_id": "NP_001035946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": -4,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5045,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "n.278-34517A>C",
"hgvs_p": null,
"transcript": "ENST00000554745.1",
"protein_id": null,
"transcript_support_level": 4,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "n.508+38525A>C",
"hgvs_p": null,
"transcript": "ENST00000556137.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD6-AS2",
"gene_hgnc_id": 43637,
"hgvs_c": "n.247-24652T>G",
"hgvs_p": null,
"transcript": "ENST00000697569.2",
"protein_id": null,
"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": 724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD6-AS2",
"gene_hgnc_id": 43637,
"hgvs_c": "n.240-24652T>G",
"hgvs_p": null,
"transcript": "ENST00000743446.1",
"protein_id": null,
"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": 822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD6-AS2",
"gene_hgnc_id": 43637,
"hgvs_c": "n.417-24652T>G",
"hgvs_p": null,
"transcript": "ENST00000743447.1",
"protein_id": null,
"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": 1602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD6-AS2",
"gene_hgnc_id": 43637,
"hgvs_c": "n.310-24652T>G",
"hgvs_p": null,
"transcript": "ENST00000743448.1",
"protein_id": null,
"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": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD6-AS2",
"gene_hgnc_id": 43637,
"hgvs_c": "n.304-24652T>G",
"hgvs_p": null,
"transcript": "ENST00000743450.1",
"protein_id": null,
"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": 538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-147+38525A>C",
"hgvs_p": null,
"transcript": "XM_011536424.2",
"protein_id": "XP_011534726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
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"cds_length": 1869,
"cdna_start": null,
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"cdna_length": 5193,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-146-80756A>C",
"hgvs_p": null,
"transcript": "XM_024449473.2",
"protein_id": "XP_024305241.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 622,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 4,
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"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-147+38525A>C",
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"transcript": "XM_047430920.1",
"protein_id": "XP_047286876.1",
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 17,
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"gene_symbol": "FRMD6",
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"hgvs_c": "c.-147+38525A>C",
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"transcript": "XM_047430921.1",
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},
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"strand": true,
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],
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"gene_symbol": "FRMD6",
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"hgvs_c": "c.-147+38525A>C",
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"transcript": "XM_047430922.1",
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},
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],
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"gene_symbol": "FRMD6",
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"hgvs_c": "c.-249-11689A>C",
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"transcript": "XM_047430926.1",
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "FRMD6",
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"hgvs_c": "c.-249-11689A>C",
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"transcript": "XM_047430927.1",
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},
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],
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},
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],
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"intron_rank": 4,
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"gene_symbol": "FRMD6",
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"hgvs_c": "c.-147+38525A>C",
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"transcript": "XM_047430929.1",
"protein_id": "XP_047286885.1",
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},
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],
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"gene_symbol": "FRMD6",
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"transcript": "XM_047430931.1",
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],
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],
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"intron_rank": 4,
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"gene_symbol": "FRMD6",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 2,
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"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"hgvs_c": "c.-147+38525A>C",
"hgvs_p": null,
"transcript": "XM_047430934.1",
"protein_id": "XP_047286890.1",
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"feature": null
}
],
"gene_symbol": "FRMD6",
"gene_hgnc_id": 19839,
"dbsnp": "rs12885443",
"frequency_reference_population": 0.17124566,
"hom_count_reference_population": 2641,
"allele_count_reference_population": 26054,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.171246,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 26054,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2641,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.121,
"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,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001042481.3",
"gene_symbol": "FRMD6",
"hgnc_id": 19839,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-147+38525A>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000697569.2",
"gene_symbol": "FRMD6-AS2",
"hgnc_id": 43637,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.247-24652T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}