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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: 19-35169547-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35169547&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35169547,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000392219.7",
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.488-19T>C",
"hgvs_p": null,
"transcript": "NM_014164.6",
"protein_id": "NP_054883.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 878,
"mane_select": "ENST00000392219.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.488-19T>C",
"hgvs_p": null,
"transcript": "ENST00000392219.7",
"protein_id": "ENSP00000376053.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 878,
"mane_select": "NM_014164.6",
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.488-19T>C",
"hgvs_p": null,
"transcript": "ENST00000342879.7",
"protein_id": "ENSP00000344254.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1580,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.275-19T>C",
"hgvs_p": null,
"transcript": "ENST00000392217.3",
"protein_id": "ENSP00000376051.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": -4,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 632,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.488-19T>C",
"hgvs_p": null,
"transcript": "ENST00000718431.1",
"protein_id": "ENSP00000520816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 275,
"cds_start": -4,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 977,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.*6-19T>C",
"hgvs_p": null,
"transcript": "NM_001320912.2",
"protein_id": "NP_001307841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": -4,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 981,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.*6-19T>C",
"hgvs_p": null,
"transcript": "ENST00000588699.5",
"protein_id": "ENSP00000467053.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": -4,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 927,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.488-19T>C",
"hgvs_p": null,
"transcript": "NM_001164605.2",
"protein_id": "NP_001158077.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1101,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.488-19T>C",
"hgvs_p": null,
"transcript": "NM_144779.3",
"protein_id": "NP_659003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 938,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.488-19T>C",
"hgvs_p": null,
"transcript": "ENST00000423817.7",
"protein_id": "ENSP00000393848.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 892,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.488-19T>C",
"hgvs_p": null,
"transcript": "ENST00000541435.6",
"protein_id": "ENSP00000443390.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 898,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.488-19T>C",
"hgvs_p": null,
"transcript": "ENST00000590686.5",
"protein_id": "ENSP00000465667.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
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"cdna_start": null,
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"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.395-19T>C",
"hgvs_p": null,
"transcript": "NM_001320913.2",
"protein_id": "NP_001307842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "n.*415-19T>C",
"hgvs_p": null,
"transcript": "ENST00000496493.5",
"protein_id": "ENSP00000468168.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "n.115-19T>C",
"hgvs_p": null,
"transcript": "ENST00000586925.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "n.368-19T>C",
"hgvs_p": null,
"transcript": "ENST00000591716.6",
"protein_id": null,
"transcript_support_level": 3,
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},
{
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "n.*232-19T>C",
"hgvs_p": null,
"transcript": "ENST00000592290.5",
"protein_id": "ENSP00000465174.1",
"transcript_support_level": 3,
"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "n.1304-19T>C",
"hgvs_p": null,
"transcript": "NR_028406.2",
"protein_id": null,
"transcript_support_level": null,
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"cdna_length": 1619,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.395-19T>C",
"hgvs_p": null,
"transcript": "XM_047438943.1",
"protein_id": "XP_047294899.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 845,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"dbsnp": "rs2285515",
"frequency_reference_population": 0.3625539,
"hom_count_reference_population": 107191,
"allele_count_reference_population": 569847,
"gnomad_exomes_af": 0.364002,
"gnomad_genomes_af": 0.349027,
"gnomad_exomes_ac": 516811,
"gnomad_genomes_ac": 53036,
"gnomad_exomes_homalt": 97579,
"gnomad_genomes_homalt": 9612,
"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": -1,
"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": "ENST00000392219.7",
"gene_symbol": "FXYD5",
"hgnc_id": 4029,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.488-19T>C",
"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
}