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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: 8-61553236-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=61553236&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 61553236,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000379454.9",
"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": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1537-116A>G",
"hgvs_p": null,
"transcript": "NM_004318.4",
"protein_id": "NP_004309.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": -4,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": "ENST00000379454.9",
"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": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1537-116A>G",
"hgvs_p": null,
"transcript": "ENST00000379454.9",
"protein_id": "ENSP00000368767.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": -4,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": "NM_004318.4",
"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": 26,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1537-116A>G",
"hgvs_p": null,
"transcript": "NM_001413844.1",
"protein_id": "NP_001400773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": -4,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5382,
"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": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1582-116A>G",
"hgvs_p": null,
"transcript": "NM_001413845.1",
"protein_id": "NP_001400774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 773,
"cds_start": -4,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5346,
"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": 26,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1579-116A>G",
"hgvs_p": null,
"transcript": "NM_001413846.1",
"protein_id": "NP_001400775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": -4,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5343,
"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": 25,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1480-116A>G",
"hgvs_p": null,
"transcript": "NM_001413847.1",
"protein_id": "NP_001400776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 5325,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1540-116A>G",
"hgvs_p": null,
"transcript": "NM_001413848.1",
"protein_id": "NP_001400777.1",
"transcript_support_level": null,
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"aa_length": 759,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"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": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1537-116A>G",
"hgvs_p": null,
"transcript": "NM_001413849.1",
"protein_id": "NP_001400778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": -4,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5301,
"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": 25,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1534-116A>G",
"hgvs_p": null,
"transcript": "NM_001413850.1",
"protein_id": "NP_001400779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
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"cds_length": 2274,
"cdna_start": null,
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"mane_select": null,
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},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "ASPH",
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"hgvs_c": "c.1534-116A>G",
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"transcript": "NM_001413851.1",
"protein_id": "NP_001400780.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "ASPH",
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"hgvs_c": "c.1525-116A>G",
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"transcript": "NM_001413852.1",
"protein_id": "NP_001400781.1",
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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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},
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],
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},
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],
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"hgvs_c": "c.1408-116A>G",
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],
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},
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],
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"gene_symbol": "ASPH",
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"exon_count": 25,
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"transcript": "XM_005251244.2",
"protein_id": "XP_005251301.1",
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 18,
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"gene_symbol": "ASPH",
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"hgvs_c": "c.1393-116A>G",
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"transcript": "XM_047421791.1",
"protein_id": "XP_047277747.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 18,
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"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"hgvs_c": "c.1321-116A>G",
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"transcript": "XM_017013444.2",
"protein_id": "XP_016868933.1",
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"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": 4987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASPH",
"gene_hgnc_id": 757,
"dbsnp": "rs4291265",
"frequency_reference_population": 0.2225073,
"hom_count_reference_population": 23201,
"allele_count_reference_population": 161915,
"gnomad_exomes_af": 0.201009,
"gnomad_genomes_af": 0.303862,
"gnomad_exomes_ac": 115697,
"gnomad_genomes_ac": 46218,
"gnomad_exomes_homalt": 13812,
"gnomad_genomes_homalt": 9389,
"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": -0.016,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000379454.9",
"gene_symbol": "ASPH",
"hgnc_id": 757,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1537-116A>G",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}