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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: 5-133067478-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=133067478&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 133067478,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002154.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe",
"transcript": "NM_002154.4",
"protein_id": "NP_002145.3",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 840,
"cds_start": 227,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304858.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002154.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe",
"transcript": "ENST00000304858.7",
"protein_id": "ENSP00000302961.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 840,
"cds_start": 227,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002154.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304858.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe",
"transcript": "ENST00000968145.1",
"protein_id": "ENSP00000638204.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 870,
"cds_start": 227,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968145.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe",
"transcript": "ENST00000936301.1",
"protein_id": "ENSP00000606360.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 847,
"cds_start": 227,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936301.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe",
"transcript": "ENST00000870715.1",
"protein_id": "ENSP00000540774.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 839,
"cds_start": 227,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870715.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe",
"transcript": "ENST00000936299.1",
"protein_id": "ENSP00000606358.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 839,
"cds_start": 227,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936299.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe",
"transcript": "ENST00000870717.1",
"protein_id": "ENSP00000540776.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 837,
"cds_start": 227,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870717.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe",
"transcript": "ENST00000968147.1",
"protein_id": "ENSP00000638206.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 836,
"cds_start": 227,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968147.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe",
"transcript": "ENST00000968144.1",
"protein_id": "ENSP00000638203.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 835,
"cds_start": 227,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968144.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe",
"transcript": "ENST00000870716.1",
"protein_id": "ENSP00000540775.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 829,
"cds_start": 227,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870716.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe",
"transcript": "ENST00000936302.1",
"protein_id": "ENSP00000606361.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 819,
"cds_start": 227,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936302.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe",
"transcript": "ENST00000870721.1",
"protein_id": "ENSP00000540780.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 810,
"cds_start": 227,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870721.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe",
"transcript": "ENST00000936304.1",
"protein_id": "ENSP00000606363.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 805,
"cds_start": 227,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936304.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe",
"transcript": "ENST00000870718.1",
"protein_id": "ENSP00000540777.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 799,
"cds_start": 227,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870718.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe",
"transcript": "ENST00000968146.1",
"protein_id": "ENSP00000638205.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 798,
"cds_start": 227,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968146.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe",
"transcript": "ENST00000936300.1",
"protein_id": "ENSP00000606359.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 762,
"cds_start": 227,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936300.1"
},
{
"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": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.166-53C>T",
"hgvs_p": null,
"transcript": "ENST00000936305.1",
"protein_id": "ENSP00000606364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 802,
"cds_start": null,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936305.1"
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.165+2441C>T",
"hgvs_p": null,
"transcript": "ENST00000870719.1",
"protein_id": "ENSP00000540778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 793,
"cds_start": null,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870719.1"
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.165+2441C>T",
"hgvs_p": null,
"transcript": "ENST00000870720.1",
"protein_id": "ENSP00000540779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": null,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870720.1"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"hgvs_c": "c.107+15121C>T",
"hgvs_p": null,
"transcript": "ENST00000936303.1",
"protein_id": "ENSP00000606362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": null,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936303.1"
}
],
"gene_symbol": "HSPA4",
"gene_hgnc_id": 5237,
"dbsnp": "rs927886423",
"frequency_reference_population": 0.000030986997,
"hom_count_reference_population": 0,
"allele_count_reference_population": 50,
"gnomad_exomes_af": 0.000032846,
"gnomad_genomes_af": 0.0000131394,
"gnomad_exomes_ac": 48,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4873299300670624,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.25,
"revel_prediction": "Benign",
"alphamissense_score": 0.1936,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.594,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002154.4",
"gene_symbol": "HSPA4",
"hgnc_id": 5237,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Ser76Phe"
}
],
"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
}