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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: 11-116783581-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=116783581&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 116783581,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003904.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPR1",
"gene_hgnc_id": 13051,
"hgvs_c": "c.930G>C",
"hgvs_p": "p.Arg310Ser",
"transcript": "NM_003904.5",
"protein_id": "NP_003895.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 459,
"cds_start": 930,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000227322.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003904.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPR1",
"gene_hgnc_id": 13051,
"hgvs_c": "c.930G>C",
"hgvs_p": "p.Arg310Ser",
"transcript": "ENST00000227322.8",
"protein_id": "ENSP00000227322.3",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 459,
"cds_start": 930,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003904.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000227322.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPR1",
"gene_hgnc_id": 13051,
"hgvs_c": "c.960G>C",
"hgvs_p": "p.Arg320Ser",
"transcript": "ENST00000900046.1",
"protein_id": "ENSP00000570105.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 469,
"cds_start": 960,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900046.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPR1",
"gene_hgnc_id": 13051,
"hgvs_c": "c.930G>C",
"hgvs_p": "p.Arg310Ser",
"transcript": "ENST00000900049.1",
"protein_id": "ENSP00000570108.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 461,
"cds_start": 930,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900049.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPR1",
"gene_hgnc_id": 13051,
"hgvs_c": "c.903G>C",
"hgvs_p": "p.Arg301Ser",
"transcript": "ENST00000932352.1",
"protein_id": "ENSP00000602411.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 450,
"cds_start": 903,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932352.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPR1",
"gene_hgnc_id": 13051,
"hgvs_c": "c.855G>C",
"hgvs_p": "p.Arg285Ser",
"transcript": "ENST00000900048.1",
"protein_id": "ENSP00000570107.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 434,
"cds_start": 855,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900048.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPR1",
"gene_hgnc_id": 13051,
"hgvs_c": "c.843G>C",
"hgvs_p": "p.Arg281Ser",
"transcript": "ENST00000900047.1",
"protein_id": "ENSP00000570106.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 430,
"cds_start": 843,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900047.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPR1",
"gene_hgnc_id": 13051,
"hgvs_c": "c.927G>C",
"hgvs_p": "p.Arg309Ser",
"transcript": "ENST00000444935.5",
"protein_id": "ENSP00000390391.1",
"transcript_support_level": 5,
"aa_start": 309,
"aa_end": null,
"aa_length": 429,
"cds_start": 927,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444935.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPR1",
"gene_hgnc_id": 13051,
"hgvs_c": "c.768G>C",
"hgvs_p": "p.Arg256Ser",
"transcript": "NM_001317086.2",
"protein_id": "NP_001304015.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 405,
"cds_start": 768,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317086.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPR1",
"gene_hgnc_id": 13051,
"hgvs_c": "c.768G>C",
"hgvs_p": "p.Arg256Ser",
"transcript": "ENST00000900045.1",
"protein_id": "ENSP00000570104.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 405,
"cds_start": 768,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900045.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPR1",
"gene_hgnc_id": 13051,
"hgvs_c": "c.708G>C",
"hgvs_p": "p.Arg236Ser",
"transcript": "ENST00000429220.5",
"protein_id": "ENSP00000394495.1",
"transcript_support_level": 5,
"aa_start": 236,
"aa_end": null,
"aa_length": 385,
"cds_start": 708,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429220.5"
},
{
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ZPR1",
"gene_hgnc_id": 13051,
"hgvs_c": "c.892-552G>C",
"hgvs_p": null,
"transcript": "ENST00000932353.1",
"protein_id": "ENSP00000602412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 429,
"cds_start": null,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932353.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPR1",
"gene_hgnc_id": 13051,
"hgvs_c": "n.*133G>C",
"hgvs_p": null,
"transcript": "ENST00000449430.1",
"protein_id": "ENSP00000415505.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000449430.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZPR1",
"gene_hgnc_id": 13051,
"hgvs_c": "n.*133G>C",
"hgvs_p": null,
"transcript": "ENST00000449430.1",
"protein_id": "ENSP00000415505.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000449430.1"
}
],
"gene_symbol": "ZPR1",
"gene_hgnc_id": 13051,
"dbsnp": "rs1454119244",
"frequency_reference_population": 0.0000043370133,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000342023,
"gnomad_genomes_af": 0.000013147,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7394561767578125,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.436,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5679,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.48,
"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": "NM_003904.5",
"gene_symbol": "ZPR1",
"hgnc_id": 13051,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.930G>C",
"hgvs_p": "p.Arg310Ser"
}
],
"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
}