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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: 5-133076676-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=133076676&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HSPA4",
"hgnc_id": 5237,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Thr229Met",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_002154.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 520,
"alphamissense_prediction": null,
"alphamissense_score": 0.0909,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"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": "Benign",
"computational_score_selected": 0.3697485625743866,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 840,
"aa_ref": "T",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4774,
"cdna_start": 924,
"cds_end": null,
"cds_length": 2523,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_002154.4",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Thr229Met",
"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": "M",
"aa_end": null,
"aa_length": 840,
"aa_ref": "T",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4774,
"cdna_start": 924,
"cds_end": null,
"cds_length": 2523,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000304858.7",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Thr229Met",
"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": "M",
"aa_end": null,
"aa_length": 870,
"aa_ref": "T",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": 958,
"cds_end": null,
"cds_length": 2613,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000968145.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Thr229Met",
"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": "M",
"aa_end": null,
"aa_length": 847,
"aa_ref": "T",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4848,
"cdna_start": 977,
"cds_end": null,
"cds_length": 2544,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000936301.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Thr229Met",
"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": "M",
"aa_end": null,
"aa_length": 839,
"aa_ref": "T",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4838,
"cdna_start": 991,
"cds_end": null,
"cds_length": 2520,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000870715.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Thr229Met",
"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": "M",
"aa_end": null,
"aa_length": 839,
"aa_ref": "T",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4836,
"cdna_start": 989,
"cds_end": null,
"cds_length": 2520,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000936299.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Thr229Met",
"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": "M",
"aa_end": null,
"aa_length": 837,
"aa_ref": "T",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4380,
"cdna_start": 886,
"cds_end": null,
"cds_length": 2514,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000870717.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Thr229Met",
"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": "M",
"aa_end": null,
"aa_length": 836,
"aa_ref": "T",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": 897,
"cds_end": null,
"cds_length": 2511,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000968147.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Thr229Met",
"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": "M",
"aa_end": null,
"aa_length": 835,
"aa_ref": "T",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2847,
"cdna_start": 986,
"cds_end": null,
"cds_length": 2508,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000968144.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Thr229Met",
"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": "M",
"aa_end": null,
"aa_length": 829,
"aa_ref": "T",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4723,
"cdna_start": 906,
"cds_end": null,
"cds_length": 2490,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000870716.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Thr229Met",
"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": "M",
"aa_end": null,
"aa_length": 819,
"aa_ref": "T",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2805,
"cdna_start": 989,
"cds_end": null,
"cds_length": 2460,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000936302.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Thr229Met",
"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": "M",
"aa_end": null,
"aa_length": 810,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2645,
"cdna_start": 863,
"cds_end": null,
"cds_length": 2433,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000870721.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Thr229Met",
"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": "M",
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 899,
"cds_end": null,
"cds_length": 2418,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000936304.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Thr229Met",
"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": "M",
"aa_end": null,
"aa_length": 802,
"aa_ref": "T",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 765,
"cds_end": null,
"cds_length": 2409,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000936305.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Met",
"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": "M",
"aa_end": null,
"aa_length": 799,
"aa_ref": "T",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3196,
"cdna_start": 774,
"cds_end": null,
"cds_length": 2400,
"cds_start": 563,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870718.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.563C>T",
"hgvs_p": "p.Thr188Met",
"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": "M",
"aa_end": null,
"aa_length": 798,
"aa_ref": "T",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 931,
"cds_end": null,
"cds_length": 2397,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000968146.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Thr229Met",
"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": "M",
"aa_end": null,
"aa_length": 793,
"aa_ref": "T",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": 848,
"cds_end": null,
"cds_length": 2382,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870719.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540778.1",
"strand": true,
"transcript": "ENST00000870719.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 781,
"cds_end": null,
"cds_length": 2379,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870720.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Thr182Met",
"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": "M",
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"aa_length": 762,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4597,
"cdna_start": 753,
"cds_end": null,
"cds_length": 2289,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936300.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "c.452C>T",
"hgvs_p": "p.Thr151Met",
"intron_rank": null,
"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.108-10106C>T",
"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
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 552,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000504328.1",
"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
"hgvs_c": "n.161C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000504328.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs139928038",
"effect": "missense_variant",
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"gene_hgnc_id": 5237,
"gene_symbol": "HSPA4",
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"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.694,
"pos": 133076676,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.245,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_002154.4"
}
]
}