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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: 5-96762510-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=96762510&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 96762510,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000675179.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.*690C>T",
"hgvs_p": null,
"transcript": "ENST00000296754.7",
"protein_id": "ENSP00000296754.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": -4,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 32,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.1932+138G>A",
"hgvs_p": null,
"transcript": "NM_001750.7",
"protein_id": "NP_001741.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": "ENST00000675179.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.1932+138G>A",
"hgvs_p": null,
"transcript": "ENST00000675179.1",
"protein_id": "ENSP00000501872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": "NM_001750.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.1683+138G>A",
"hgvs_p": null,
"transcript": "ENST00000341926.7",
"protein_id": "ENSP00000339914.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 708,
"cds_start": -4,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 31,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.1644+138G>A",
"hgvs_p": null,
"transcript": "ENST00000338252.7",
"protein_id": "ENSP00000343421.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": -4,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.1617+138G>A",
"hgvs_p": null,
"transcript": "ENST00000309190.9",
"protein_id": "ENSP00000312523.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 686,
"cds_start": -4,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.1578+138G>A",
"hgvs_p": null,
"transcript": "ENST00000509903.5",
"protein_id": "ENSP00000426946.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
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"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.954+138G>A",
"hgvs_p": null,
"transcript": "ENST00000510500.5",
"protein_id": "ENSP00000424160.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": -4,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.936+138G>A",
"hgvs_p": null,
"transcript": "ENST00000437034.6",
"protein_id": "ENSP00000412374.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 435,
"cds_start": -4,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3377,
"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": 26,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "n.1625+138G>A",
"hgvs_p": null,
"transcript": "ENST00000348386.7",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "n.852+138G>A",
"hgvs_p": null,
"transcript": "ENST00000484552.6",
"protein_id": "ENSP00000432878.2",
"transcript_support_level": 1,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 12,
"intron_rank": 2,
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"gene_symbol": "CAST",
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"hgvs_c": "n.168+138G>A",
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"transcript": "ENST00000510098.1",
"protein_id": "ENSP00000427195.1",
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.*690C>T",
"hgvs_p": null,
"transcript": "NM_001349244.2",
"protein_id": "NP_001336173.1",
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},
{
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"strand": false,
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],
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "ERAP1",
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"hgvs_c": "c.*690C>T",
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"transcript": "NM_016442.5",
"protein_id": "NP_057526.3",
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},
{
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],
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"transcript": "XM_047417308.1",
"protein_id": "XP_047273264.1",
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"feature": null
},
{
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"consequences": [
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],
"exon_rank": 20,
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"intron_rank": null,
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"gene_symbol": "ERAP1",
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"hgvs_c": "c.*690C>T",
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"transcript": "XM_047417309.1",
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},
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],
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},
{
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"strand": true,
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],
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"intron_rank": 26,
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"gene_symbol": "CAST",
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"hgvs_c": "c.1932+138G>A",
"hgvs_p": null,
"transcript": "ENST00000508830.5",
"protein_id": "ENSP00000425721.1",
"transcript_support_level": 5,
"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 24,
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"gene_symbol": "CAST",
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"hgvs_c": "c.1875+138G>A",
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"transcript": "NM_001042441.3",
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},
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],
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],
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},
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],
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"gene_symbol": "CAST",
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"hgvs_c": "c.1848+138G>A",
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"transcript": "NM_001330629.2",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 23,
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"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.1836+138G>A",
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"transcript": "NM_001330626.2",
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},
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},
{
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"exon_count": 31,
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"transcript": "ENST00000675267.1",
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},
{
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"transcript": "ENST00000675275.1",
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},
{
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},
{
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"intron_variant"
],
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"transcript": "NR_104285.2",
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}
],
"gene_symbol": "CAST",
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"dbsnp": "rs27582",
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"hom_count_reference_population": 38508,
"allele_count_reference_population": 202657,
"gnomad_exomes_af": 0.361233,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.552,
"phylop100way_prediction": "Benign",
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000675179.1",
"gene_symbol": "CAST",
"hgnc_id": 1515,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1932+138G>A",
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},
{
"score": -14,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_016442.5",
"gene_symbol": "ERAP1",
"hgnc_id": 18173,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*690C>T",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}