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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: 5-133074047-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=133074047&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HSPA4",
"hgnc_id": 5237,
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Pro195Arg",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_002154.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8962,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"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": 0.6092209219932556,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 840,
"aa_ref": "P",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4774,
"cdna_start": 822,
"cds_end": null,
"cds_length": 2523,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_002154.4",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Pro195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000304858.7",
"protein_coding": true,
"protein_id": "NP_002145.3",
"strand": true,
"transcript": "NM_002154.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 840,
"aa_ref": "P",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4774,
"cdna_start": 822,
"cds_end": null,
"cds_length": 2523,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000304858.7",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Pro195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002154.4",
"protein_coding": true,
"protein_id": "ENSP00000302961.2",
"strand": true,
"transcript": "ENST00000304858.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 870,
"aa_ref": "P",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": 856,
"cds_end": null,
"cds_length": 2613,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000968145.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Pro195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638204.1",
"strand": true,
"transcript": "ENST00000968145.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 847,
"aa_ref": "P",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4848,
"cdna_start": 875,
"cds_end": null,
"cds_length": 2544,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000936301.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Pro195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606360.1",
"strand": true,
"transcript": "ENST00000936301.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 839,
"aa_ref": "P",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4838,
"cdna_start": 889,
"cds_end": null,
"cds_length": 2520,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870715.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Pro195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540774.1",
"strand": true,
"transcript": "ENST00000870715.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 839,
"aa_ref": "P",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4836,
"cdna_start": 887,
"cds_end": null,
"cds_length": 2520,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000936299.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Pro195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606358.1",
"strand": true,
"transcript": "ENST00000936299.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 837,
"aa_ref": "P",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4380,
"cdna_start": 784,
"cds_end": null,
"cds_length": 2514,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870717.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Pro195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540776.1",
"strand": true,
"transcript": "ENST00000870717.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 836,
"aa_ref": "P",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": 795,
"cds_end": null,
"cds_length": 2511,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000968147.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Pro195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638206.1",
"strand": true,
"transcript": "ENST00000968147.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 835,
"aa_ref": "P",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2847,
"cdna_start": 884,
"cds_end": null,
"cds_length": 2508,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000968144.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Pro195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638203.1",
"strand": true,
"transcript": "ENST00000968144.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 829,
"aa_ref": "P",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4723,
"cdna_start": 804,
"cds_end": null,
"cds_length": 2490,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870716.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Pro195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540775.1",
"strand": true,
"transcript": "ENST00000870716.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 819,
"aa_ref": "P",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2805,
"cdna_start": 887,
"cds_end": null,
"cds_length": 2460,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000936302.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Pro195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606361.1",
"strand": true,
"transcript": "ENST00000936302.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 810,
"aa_ref": "P",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2645,
"cdna_start": 761,
"cds_end": null,
"cds_length": 2433,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870721.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Pro195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540780.1",
"strand": true,
"transcript": "ENST00000870721.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 805,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 797,
"cds_end": null,
"cds_length": 2418,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000936304.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Pro195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606363.1",
"strand": true,
"transcript": "ENST00000936304.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 802,
"aa_ref": "P",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 663,
"cds_end": null,
"cds_length": 2409,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000936305.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.470C>G",
"hgvs_p": "p.Pro157Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606364.1",
"strand": true,
"transcript": "ENST00000936305.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 799,
"aa_ref": "P",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3196,
"cdna_start": 672,
"cds_end": null,
"cds_length": 2400,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000870718.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.461C>G",
"hgvs_p": "p.Pro154Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540777.1",
"strand": true,
"transcript": "ENST00000870718.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 798,
"aa_ref": "P",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 829,
"cds_end": null,
"cds_length": 2397,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000968146.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.584C>G",
"hgvs_p": "p.Pro195Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638205.1",
"strand": true,
"transcript": "ENST00000968146.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 793,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": 746,
"cds_end": null,
"cds_length": 2382,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000870719.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.443C>G",
"hgvs_p": "p.Pro148Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540778.1",
"strand": true,
"transcript": "ENST00000870719.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 679,
"cds_end": null,
"cds_length": 2379,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000870720.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.443C>G",
"hgvs_p": "p.Pro148Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540779.1",
"strand": true,
"transcript": "ENST00000870720.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4597,
"cdna_start": null,
"cds_end": null,
"cds_length": 2289,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936300.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.430-2607C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606359.1",
"strand": true,
"transcript": "ENST00000936300.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 573,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": null,
"cds_end": null,
"cds_length": 1722,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936303.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.108-12735C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606362.1",
"strand": true,
"transcript": "ENST00000936303.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": 7.48,
"pos": 133074047,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.392,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_002154.4"
}
]
}