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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: 3-125232390-GCT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=125232390&ref=GCT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 125232390,
"ref": "GCT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000360647.9",
"consequences": [
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "NM_021964.3",
"protein_id": "NP_068799.2",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 794,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2792,
"cdna_end": null,
"cdna_length": 9514,
"mane_select": "ENST00000360647.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "ENST00000360647.9",
"protein_id": "ENSP00000353863.4",
"transcript_support_level": 1,
"aa_start": 778,
"aa_end": null,
"aa_length": 794,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2792,
"cdna_end": null,
"cdna_length": 9514,
"mane_select": "NM_021964.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "ENST00000484491.5",
"protein_id": "ENSP00000420335.1",
"transcript_support_level": 1,
"aa_start": 778,
"aa_end": null,
"aa_length": 794,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2637,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "ENST00000485866.5",
"protein_id": "ENSP00000420448.1",
"transcript_support_level": 1,
"aa_start": 778,
"aa_end": null,
"aa_length": 794,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2897,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "ENST00000492394.5",
"protein_id": "ENSP00000419322.1",
"transcript_support_level": 1,
"aa_start": 778,
"aa_end": null,
"aa_length": 794,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2637,
"cdna_end": null,
"cdna_length": 2949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.384_385delAG",
"hgvs_p": "p.Arg128fs",
"transcript": "ENST00000468369.5",
"protein_id": "ENSP00000420102.1",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 144,
"cds_start": 384,
"cds_end": null,
"cds_length": 435,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "NM_001348424.1",
"protein_id": "NP_001335353.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 794,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 3168,
"cdna_end": null,
"cdna_length": 9890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "NM_001348425.2",
"protein_id": "NP_001335354.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 794,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2938,
"cdna_end": null,
"cdna_length": 9660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "NM_001348426.2",
"protein_id": "NP_001335355.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 794,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2661,
"cdna_end": null,
"cdna_length": 9383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "NM_001348427.2",
"protein_id": "NP_001335356.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 794,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 9633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "NM_001348428.2",
"protein_id": "NP_001335357.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 794,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2816,
"cdna_end": null,
"cdna_length": 9538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "NM_001348429.2",
"protein_id": "NP_001335358.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 794,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 9655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "NM_001348430.2",
"protein_id": "NP_001335359.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 794,
"cds_start": 2334,
"cds_end": null,
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"cdna_start": 2742,
"cdna_end": null,
"cdna_length": 9464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "NM_001348431.2",
"protein_id": "NP_001335360.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 794,
"cds_start": 2334,
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"cdna_start": 2740,
"cdna_end": null,
"cdna_length": 9462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "NM_001348432.2",
"protein_id": "NP_001335361.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 794,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 3051,
"cdna_end": null,
"cdna_length": 9773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "NM_001348433.2",
"protein_id": "NP_001335362.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
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"cds_start": 2334,
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"cdna_start": 2872,
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"cdna_length": 9594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "ENST00000471196.2",
"protein_id": "ENSP00000420038.2",
"transcript_support_level": 4,
"aa_start": 778,
"aa_end": null,
"aa_length": 794,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 2824,
"cdna_end": null,
"cdna_length": 3352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs",
"transcript": "ENST00000700044.1",
"protein_id": "ENSP00000514760.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 794,
"cds_start": 2334,
"cds_end": null,
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"cdna_start": 3160,
"cdna_end": null,
"cdna_length": 3769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "c.2208_2209delAG",
"hgvs_p": "p.Arg736fs",
"transcript": "NM_001348434.2",
"protein_id": "NP_001335363.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 752,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2695,
"cdna_end": null,
"cdna_length": 9417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "n.2330_2331delAG",
"hgvs_p": null,
"transcript": "ENST00000497929.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"hgvs_c": "n.*120_*121delAG",
"hgvs_p": null,
"transcript": "ENST00000496732.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF148",
"gene_hgnc_id": 12933,
"dbsnp": "rs1553802038",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.648,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Moderate,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000360647.9",
"gene_symbol": "ZNF148",
"hgnc_id": 12933,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2334_2335delAG",
"hgvs_p": "p.Arg778fs"
}
],
"clinvar_disease": " absent or hypoplastic corpus callosum, and dysmorphic facies,Global developmental delay",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}