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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: 11-35312485-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=35312485&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 35312485,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000278379.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.311-37A>G",
"hgvs_p": null,
"transcript": "NM_004171.4",
"protein_id": "NP_004162.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": -4,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12006,
"mane_select": "ENST00000278379.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.311-37A>G",
"hgvs_p": null,
"transcript": "ENST00000278379.9",
"protein_id": "ENSP00000278379.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": -4,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12006,
"mane_select": "NM_004171.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.299-37A>G",
"hgvs_p": null,
"transcript": "ENST00000395750.6",
"protein_id": "ENSP00000379099.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": -4,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.422-37A>G",
"hgvs_p": null,
"transcript": "ENST00000644779.1",
"protein_id": "ENSP00000494258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 611,
"cds_start": -4,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.311-37A>G",
"hgvs_p": null,
"transcript": "ENST00000643134.1",
"protein_id": "ENSP00000495188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": -4,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.326-37A>G",
"hgvs_p": null,
"transcript": "ENST00000645303.1",
"protein_id": "ENSP00000496667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 579,
"cds_start": -4,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.311-37A>G",
"hgvs_p": null,
"transcript": "ENST00000531628.2",
"protein_id": "ENSP00000436029.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
"cds_end": null,
"cds_length": 1724,
"cdna_start": null,
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"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.302-37A>G",
"hgvs_p": null,
"transcript": "ENST00000646080.1",
"protein_id": "ENSP00000494113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": -4,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.299-37A>G",
"hgvs_p": null,
"transcript": "NM_001439342.1",
"protein_id": "NP_001426271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": -4,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
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"cdna_length": 11520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.284-37A>G",
"hgvs_p": null,
"transcript": "NM_001195728.3",
"protein_id": "NP_001182657.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
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"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.284-37A>G",
"hgvs_p": null,
"transcript": "NM_001252652.2",
"protein_id": "NP_001239581.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "SLC1A2",
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"hgvs_c": "c.284-37A>G",
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},
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],
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"gene_symbol": "SLC1A2",
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"hgvs_c": "c.284-37A>G",
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},
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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": "SLC1A2",
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"transcript": "ENST00000645634.1",
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],
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],
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"gene_symbol": "SLC1A2",
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},
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],
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"gene_symbol": "SLC1A2",
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{
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{
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{
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}
],
"gene_symbol": "SLC1A2",
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"dbsnp": "rs10836370",
"frequency_reference_population": 0.23026209,
"hom_count_reference_population": 44821,
"allele_count_reference_population": 369940,
"gnomad_exomes_af": 0.232355,
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"gnomad_exomes_ac": 337931,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.8199999928474426,
"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,
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"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.116,
"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,
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"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000278379.9",
"gene_symbol": "SLC1A2",
"hgnc_id": 10940,
"effects": [
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],
"inheritance_mode": "AD,AR",
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}
],
"clinvar_disease": " 41,Developmental and epileptic encephalopathy,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Developmental and epileptic encephalopathy, 41|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}