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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: 1-207050973-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=207050973&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 207050973,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000315927.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YOD1",
"gene_hgnc_id": 25035,
"hgvs_c": "c.58G>C",
"hgvs_p": "p.Gly20Arg",
"transcript": "NM_018566.4",
"protein_id": "NP_061036.3",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 348,
"cds_start": 58,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 6396,
"mane_select": "ENST00000315927.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YOD1",
"gene_hgnc_id": 25035,
"hgvs_c": "c.58G>C",
"hgvs_p": "p.Gly20Arg",
"transcript": "ENST00000315927.9",
"protein_id": "ENSP00000326813.4",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 348,
"cds_start": 58,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 6396,
"mane_select": "NM_018566.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YOD1",
"gene_hgnc_id": 25035,
"hgvs_c": "c.52-126G>C",
"hgvs_p": null,
"transcript": "NM_001276320.2",
"protein_id": "NP_001263249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YOD1",
"gene_hgnc_id": 25035,
"hgvs_c": "c.52-126G>C",
"hgvs_p": null,
"transcript": "ENST00000367084.1",
"protein_id": "ENSP00000356051.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6291,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKFB2",
"gene_hgnc_id": 8873,
"hgvs_c": "c.-17-3728C>G",
"hgvs_p": null,
"transcript": "ENST00000545806.5",
"protein_id": "ENSP00000439420.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": -4,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 543,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PFKFB2",
"gene_hgnc_id": 8873,
"hgvs_c": "c.-18+1356C>G",
"hgvs_p": null,
"transcript": "ENST00000618513.4",
"protein_id": "ENSP00000484988.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 48,
"cds_start": -4,
"cds_end": null,
"cds_length": 147,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PFKFB2",
"gene_hgnc_id": 8873,
"hgvs_c": "n.-18+1356C>G",
"hgvs_p": null,
"transcript": "ENST00000411990.6",
"protein_id": "ENSP00000408717.3",
"transcript_support_level": 2,
"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": 1876,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PFKFB2",
"gene_hgnc_id": 8873,
"hgvs_c": "c.-17-3728C>G",
"hgvs_p": null,
"transcript": "XM_047422547.1",
"protein_id": "XP_047278503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 505,
"cds_start": -4,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7082,
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PFKFB2",
"gene_hgnc_id": 8873,
"hgvs_c": "c.-17-3728C>G",
"hgvs_p": null,
"transcript": "XM_047422548.1",
"protein_id": "XP_047278504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 505,
"cds_start": -4,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "YOD1",
"gene_hgnc_id": 25035,
"hgvs_c": "c.52-126G>C",
"hgvs_p": null,
"transcript": "XM_047424447.1",
"protein_id": "XP_047280403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "YOD1",
"gene_hgnc_id": 25035,
"dbsnp": "rs1371529379",
"frequency_reference_population": 0.0000038866197,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000215592,
"gnomad_genomes_af": 0.000019706,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46897563338279724,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.116,
"revel_prediction": "Benign",
"alphamissense_score": 0.1336,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.33,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000315927.9",
"gene_symbol": "YOD1",
"hgnc_id": 25035,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.58G>C",
"hgvs_p": "p.Gly20Arg"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000411990.6",
"gene_symbol": "PFKFB2",
"hgnc_id": 8873,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.-18+1356C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}