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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: 19-16437564-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=16437564&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 16437564,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000455140.7",
"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": 24,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.309+206T>G",
"hgvs_p": null,
"transcript": "NM_001258374.3",
"protein_id": "NP_001245303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 910,
"cds_start": -4,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3216,
"mane_select": "ENST00000455140.7",
"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": 24,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.309+206T>G",
"hgvs_p": null,
"transcript": "ENST00000455140.7",
"protein_id": "ENSP00000393313.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 910,
"cds_start": -4,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3216,
"mane_select": "NM_001258374.3",
"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": 23,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.309+206T>G",
"hgvs_p": null,
"transcript": "ENST00000248070.10",
"protein_id": "ENSP00000248070.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": -4,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2924,
"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": 22,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.309+206T>G",
"hgvs_p": null,
"transcript": "ENST00000535753.6",
"protein_id": "ENSP00000440103.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": -4,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2666,
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.309+206T>G",
"hgvs_p": null,
"transcript": "ENST00000597937.5",
"protein_id": "ENSP00000472267.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "n.309+206T>G",
"hgvs_p": null,
"transcript": "ENST00000602022.5",
"protein_id": "ENSP00000471981.1",
"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": 3082,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.309+206T>G",
"hgvs_p": null,
"transcript": "NM_001438224.1",
"protein_id": "NP_001425153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": -4,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3264,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.309+206T>G",
"hgvs_p": null,
"transcript": "ENST00000714540.1",
"protein_id": "ENSP00000519782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 926,
"cds_start": -4,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3328,
"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": 23,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.309+206T>G",
"hgvs_p": null,
"transcript": "NM_021235.3",
"protein_id": "NP_067058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": -4,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"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": 24,
"intron_rank": 5,
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"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.309+206T>G",
"hgvs_p": null,
"transcript": "NM_001438227.1",
"protein_id": "NP_001425156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 829,
"cds_start": -4,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
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"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"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": 22,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.309+206T>G",
"hgvs_p": null,
"transcript": "NM_001438225.1",
"protein_id": "NP_001425154.1",
"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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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "EPS15L1",
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"hgvs_c": "c.309+206T>G",
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"transcript": "NM_001438226.1",
"protein_id": "NP_001425155.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 5,
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"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.309+206T>G",
"hgvs_p": null,
"transcript": "ENST00000594975.5",
"protein_id": "ENSP00000471662.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 5,
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"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.309+206T>G",
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"transcript": "NM_001258375.2",
"protein_id": "NP_001245304.1",
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},
{
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],
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"intron_rank": 5,
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"gene_symbol": "EPS15L1",
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"transcript": "NM_001438228.1",
"protein_id": "NP_001425157.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "EPS15L1",
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"hgvs_c": "c.309+206T>G",
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"transcript": "NM_001258376.2",
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},
{
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],
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"intron_rank": 5,
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"gene_symbol": "EPS15L1",
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"hgvs_c": "n.*46+206T>G",
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"transcript": "ENST00000592031.5",
"protein_id": "ENSP00000465286.2",
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},
{
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"consequences": [
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],
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "EPS15L1",
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"hgvs_c": "n.166-3081T>G",
"hgvs_p": null,
"transcript": "ENST00000593760.5",
"protein_id": "ENSP00000472958.1",
"transcript_support_level": 4,
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},
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "EPS15L1",
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"hgvs_c": "n.309+206T>G",
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"transcript": "ENST00000596037.5",
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},
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],
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"gene_symbol": "EPS15L1",
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},
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],
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"gene_symbol": "EPS15L1",
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": 5,
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"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "n.353+206T>G",
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"transcript": "NR_047666.1",
"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EPS15L1",
"gene_hgnc_id": 24634,
"hgvs_c": "c.309+206T>G",
"hgvs_p": null,
"transcript": "XM_017027089.3",
"protein_id": "XP_016882578.1",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
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"intron_variant"
],
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"gene_symbol": "EPS15L1",
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"transcript": "XM_047439174.1",
"protein_id": "XP_047295130.1",
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"cds_start": -4,
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}
],
"gene_symbol": "EPS15L1",
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"dbsnp": "rs10411936",
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"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": -0.8999999761581421,
"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": -0.861,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000455140.7",
"gene_symbol": "EPS15L1",
"hgnc_id": 24634,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.309+206T>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}