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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: 11-123058779-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=123058779&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 123058779,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000534624.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1375T>C",
"hgvs_p": "p.Phe459Leu",
"transcript": "NM_006597.6",
"protein_id": "NP_006588.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 646,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": "ENST00000534624.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1375T>C",
"hgvs_p": "p.Phe459Leu",
"transcript": "ENST00000534624.6",
"protein_id": "ENSP00000432083.1",
"transcript_support_level": 1,
"aa_start": 459,
"aa_end": null,
"aa_length": 646,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": "NM_006597.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1375T>C",
"hgvs_p": "p.Phe459Leu",
"transcript": "ENST00000227378.7",
"protein_id": "ENSP00000227378.3",
"transcript_support_level": 1,
"aa_start": 459,
"aa_end": null,
"aa_length": 646,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1375T>C",
"hgvs_p": "p.Phe459Leu",
"transcript": "ENST00000453788.6",
"protein_id": "ENSP00000404372.2",
"transcript_support_level": 1,
"aa_start": 459,
"aa_end": null,
"aa_length": 493,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.148T>C",
"hgvs_p": "p.Phe50Leu",
"transcript": "ENST00000524552.5",
"protein_id": "ENSP00000435908.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 222,
"cds_start": 148,
"cds_end": null,
"cds_length": 669,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Phe11Leu",
"transcript": "ENST00000526686.1",
"protein_id": "ENSP00000435019.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 149,
"cds_start": 31,
"cds_end": null,
"cds_length": 452,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1375T>C",
"hgvs_p": "p.Phe459Leu",
"transcript": "ENST00000532636.5",
"protein_id": "ENSP00000437125.1",
"transcript_support_level": 5,
"aa_start": 459,
"aa_end": null,
"aa_length": 646,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1318T>C",
"hgvs_p": "p.Phe440Leu",
"transcript": "ENST00000526110.5",
"protein_id": "ENSP00000433584.1",
"transcript_support_level": 5,
"aa_start": 440,
"aa_end": null,
"aa_length": 627,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.937T>C",
"hgvs_p": "p.Phe313Leu",
"transcript": "ENST00000533540.5",
"protein_id": "ENSP00000437189.1",
"transcript_support_level": 5,
"aa_start": 313,
"aa_end": null,
"aa_length": 500,
"cds_start": 937,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 1826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1375T>C",
"hgvs_p": "p.Phe459Leu",
"transcript": "NM_153201.4",
"protein_id": "NP_694881.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 493,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "ENST00000534319.5",
"protein_id": "ENSP00000433316.1",
"transcript_support_level": 2,
"aa_start": 223,
"aa_end": null,
"aa_length": 410,
"cds_start": 667,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "c.1375T>C",
"hgvs_p": "p.Phe459Leu",
"transcript": "XM_011542798.2",
"protein_id": "XP_011541100.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 646,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "n.1350T>C",
"hgvs_p": null,
"transcript": "ENST00000532091.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORD14D",
"gene_hgnc_id": 30353,
"hgvs_c": "n.*130T>C",
"hgvs_p": null,
"transcript": "ENST00000384390.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 87,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"hgvs_c": "n.*12T>C",
"hgvs_p": null,
"transcript": "ENST00000533238.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORD14D",
"gene_hgnc_id": 30353,
"hgvs_c": "n.*130T>C",
"hgvs_p": null,
"transcript": "NR_001454.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 87,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HSPA8",
"gene_hgnc_id": 5241,
"dbsnp": "rs11551598",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8020365238189697,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.485,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.292,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000534624.6",
"gene_symbol": "HSPA8",
"hgnc_id": 5241,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1375T>C",
"hgvs_p": "p.Phe459Leu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NR_001454.2",
"gene_symbol": "SNORD14D",
"hgnc_id": 30353,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*130T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}