← Back to variant description
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: 5-137906252-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=137906252&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PKD2L2",
"hgnc_id": 9012,
"hgvs_c": "c.793C>G",
"hgvs_p": "p.Gln265Glu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001300921.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.0876,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4697091579437256,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 624,
"aa_ref": "Q",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 828,
"cds_end": null,
"cds_length": 1875,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001300921.2",
"gene_hgnc_id": 9012,
"gene_symbol": "PKD2L2",
"hgvs_c": "c.793C>G",
"hgvs_p": "p.Gln265Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000508883.6",
"protein_coding": true,
"protein_id": "NP_001287850.1",
"strand": true,
"transcript": "NM_001300921.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 624,
"aa_ref": "Q",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 828,
"cds_end": null,
"cds_length": 1875,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000508883.6",
"gene_hgnc_id": 9012,
"gene_symbol": "PKD2L2",
"hgvs_c": "c.793C>G",
"hgvs_p": "p.Gln265Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001300921.2",
"protein_coding": true,
"protein_id": "ENSP00000424725.1",
"strand": true,
"transcript": "ENST00000508883.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 613,
"aa_ref": "Q",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": 816,
"cds_end": null,
"cds_length": 1842,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000290431.5",
"gene_hgnc_id": 9012,
"gene_symbol": "PKD2L2",
"hgvs_c": "c.793C>G",
"hgvs_p": "p.Gln265Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000290431.5",
"strand": true,
"transcript": "ENST00000290431.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 523,
"aa_ref": "Q",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": 848,
"cds_end": null,
"cds_length": 1572,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000508638.5",
"gene_hgnc_id": 9012,
"gene_symbol": "PKD2L2",
"hgvs_c": "c.793C>G",
"hgvs_p": "p.Gln265Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423382.1",
"strand": true,
"transcript": "ENST00000508638.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 181,
"aa_ref": "Q",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1927,
"cdna_start": 1902,
"cds_end": null,
"cds_length": 548,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000503015.5",
"gene_hgnc_id": 9012,
"gene_symbol": "PKD2L2",
"hgvs_c": "c.523C>G",
"hgvs_p": "p.Gln175Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424885.1",
"strand": true,
"transcript": "ENST00000503015.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 930,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000414094.6",
"gene_hgnc_id": 9012,
"gene_symbol": "PKD2L2",
"hgvs_c": "n.*575C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000388060.2",
"strand": true,
"transcript": "ENST00000414094.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 930,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000414094.6",
"gene_hgnc_id": 9012,
"gene_symbol": "PKD2L2",
"hgvs_c": "n.*575C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000388060.2",
"strand": true,
"transcript": "ENST00000414094.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 613,
"aa_ref": "Q",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2214,
"cdna_start": 828,
"cds_end": null,
"cds_length": 1842,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_014386.4",
"gene_hgnc_id": 9012,
"gene_symbol": "PKD2L2",
"hgvs_c": "c.793C>G",
"hgvs_p": "p.Gln265Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055201.2",
"strand": true,
"transcript": "NM_014386.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 602,
"aa_ref": "Q",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": 828,
"cds_end": null,
"cds_length": 1809,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001258448.2",
"gene_hgnc_id": 9012,
"gene_symbol": "PKD2L2",
"hgvs_c": "c.793C>G",
"hgvs_p": "p.Gln265Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245377.1",
"strand": true,
"transcript": "NM_001258448.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 602,
"aa_ref": "Q",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": 824,
"cds_end": null,
"cds_length": 1809,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000502810.5",
"gene_hgnc_id": 9012,
"gene_symbol": "PKD2L2",
"hgvs_c": "c.793C>G",
"hgvs_p": "p.Gln265Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425513.1",
"strand": true,
"transcript": "ENST00000502810.5",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 523,
"aa_ref": "Q",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2313,
"cdna_start": 828,
"cds_end": null,
"cds_length": 1572,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001258449.2",
"gene_hgnc_id": 9012,
"gene_symbol": "PKD2L2",
"hgvs_c": "c.793C>G",
"hgvs_p": "p.Gln265Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245378.1",
"strand": true,
"transcript": "NM_001258449.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 604,
"aa_ref": "Q",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": 828,
"cds_end": null,
"cds_length": 1815,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017009343.3",
"gene_hgnc_id": 9012,
"gene_symbol": "PKD2L2",
"hgvs_c": "c.793C>G",
"hgvs_p": "p.Gln265Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864832.1",
"strand": true,
"transcript": "XM_017009343.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 590,
"aa_ref": "Q",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1825,
"cdna_start": 726,
"cds_end": null,
"cds_length": 1773,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011543318.4",
"gene_hgnc_id": 9012,
"gene_symbol": "PKD2L2",
"hgvs_c": "c.691C>G",
"hgvs_p": "p.Gln231Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541620.1",
"strand": true,
"transcript": "XM_011543318.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 564,
"aa_ref": "Q",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2072,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1695,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017009344.3",
"gene_hgnc_id": 9012,
"gene_symbol": "PKD2L2",
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Gln205Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864833.1",
"strand": true,
"transcript": "XM_017009344.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 550,
"aa_ref": "Q",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1705,
"cdna_start": 606,
"cds_end": null,
"cds_length": 1653,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017009345.3",
"gene_hgnc_id": 9012,
"gene_symbol": "PKD2L2",
"hgvs_c": "c.571C>G",
"hgvs_p": "p.Gln191Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016864834.1",
"strand": true,
"transcript": "XM_017009345.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs774528614",
"effect": "missense_variant",
"frequency_reference_population": 0.0000068504223,
"gene_hgnc_id": 9012,
"gene_symbol": "PKD2L2",
"gnomad_exomes_ac": 10,
"gnomad_exomes_af": 0.00000685042,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.961,
"pos": 137906252,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.396,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001300921.2"
}
]
}