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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: 19-7640932-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=7640932&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 7640932,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000221283.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.358C>T",
"hgvs_p": "p.Arg120Cys",
"transcript": "NM_006949.4",
"protein_id": "NP_008880.2",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 593,
"cds_start": 358,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": "ENST00000221283.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.358C>T",
"hgvs_p": "p.Arg120Cys",
"transcript": "ENST00000221283.10",
"protein_id": "ENSP00000221283.4",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 593,
"cds_start": 358,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": "NM_006949.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117Cys",
"transcript": "ENST00000414284.6",
"protein_id": "ENSP00000409471.1",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 590,
"cds_start": 349,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.358C>T",
"hgvs_p": null,
"transcript": "ENST00000597068.5",
"protein_id": "ENSP00000471327.1",
"transcript_support_level": 1,
"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": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268400",
"gene_hgnc_id": null,
"hgvs_c": "n.*461C>T",
"hgvs_p": null,
"transcript": "ENST00000698368.1",
"protein_id": "ENSP00000513686.1",
"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": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268400",
"gene_hgnc_id": null,
"hgvs_c": "n.*461C>T",
"hgvs_p": null,
"transcript": "ENST00000698368.1",
"protein_id": "ENSP00000513686.1",
"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": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Cys",
"transcript": "NM_001272034.2",
"protein_id": "NP_001258963.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 604,
"cds_start": 391,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Cys",
"transcript": "ENST00000441779.6",
"protein_id": "ENSP00000413606.2",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 604,
"cds_start": 391,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Arg117Cys",
"transcript": "NM_001127396.3",
"protein_id": "NP_001120868.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 590,
"cds_start": 349,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.262C>T",
"hgvs_p": "p.Arg88Cys",
"transcript": "NM_001414484.1",
"protein_id": "NP_001401413.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 561,
"cds_start": 262,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.358C>T",
"hgvs_p": "p.Arg120Cys",
"transcript": "ENST00000600702.6",
"protein_id": "ENSP00000471737.2",
"transcript_support_level": 2,
"aa_start": 120,
"aa_end": null,
"aa_length": 525,
"cds_start": 358,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Arg68Cys",
"transcript": "ENST00000595950.5",
"protein_id": "ENSP00000471161.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 168,
"cds_start": 202,
"cds_end": null,
"cds_length": 507,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268400",
"gene_hgnc_id": null,
"hgvs_c": "n.*312C>T",
"hgvs_p": null,
"transcript": "ENST00000595866.2",
"protein_id": "ENSP00000469553.2",
"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": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.192C>T",
"hgvs_p": null,
"transcript": "ENST00000599648.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.310C>T",
"hgvs_p": null,
"transcript": "ENST00000599737.5",
"protein_id": "ENSP00000471585.1",
"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": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268400",
"gene_hgnc_id": null,
"hgvs_c": "n.406C>T",
"hgvs_p": null,
"transcript": "ENST00000698367.1",
"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": 1132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.1508C>T",
"hgvs_p": null,
"transcript": "ENST00000698369.1",
"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": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.165C>T",
"hgvs_p": null,
"transcript": "ENST00000698370.1",
"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": 1285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.398C>T",
"hgvs_p": null,
"transcript": "NR_073560.2",
"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": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268400",
"gene_hgnc_id": null,
"hgvs_c": "n.*312C>T",
"hgvs_p": null,
"transcript": "ENST00000595866.2",
"protein_id": "ENSP00000469553.2",
"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": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268400",
"gene_hgnc_id": null,
"hgvs_c": "n.52-1102C>T",
"hgvs_p": null,
"transcript": "ENST00000598664.5",
"protein_id": "ENSP00000472796.1",
"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": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"dbsnp": "rs140745219",
"frequency_reference_population": 0.00016665696,
"hom_count_reference_population": 0,
"allele_count_reference_population": 269,
"gnomad_exomes_af": 0.000179223,
"gnomad_genomes_af": 0.0000459849,
"gnomad_exomes_ac": 262,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.719830334186554,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.533,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1802,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.433,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000221283.10",
"gene_symbol": "STXBP2",
"hgnc_id": 11445,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.358C>T",
"hgvs_p": "p.Arg120Cys"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000698368.1",
"gene_symbol": "ENSG00000268400",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*461C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Familial hemophagocytic lymphohistiocytosis 5,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Familial hemophagocytic lymphohistiocytosis 5",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}