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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: 15-67164885-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=67164885&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 67164885,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000327367.9",
"consequences": [
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.207-10G>A",
"hgvs_p": null,
"transcript": "NM_005902.4",
"protein_id": "NP_005893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6464,
"mane_select": "ENST00000327367.9",
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.207-10G>A",
"hgvs_p": null,
"transcript": "ENST00000327367.9",
"protein_id": "ENSP00000332973.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6464,
"mane_select": "NM_005902.4",
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.75-10G>A",
"hgvs_p": null,
"transcript": "ENST00000439724.7",
"protein_id": "ENSP00000401133.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1530,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.-109-10G>A",
"hgvs_p": null,
"transcript": "ENST00000540846.6",
"protein_id": "ENSP00000437757.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": -4,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1567,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.207-10G>A",
"hgvs_p": null,
"transcript": "NM_001407011.1",
"protein_id": "NP_001393940.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": -4,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6575,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.207-10G>A",
"hgvs_p": null,
"transcript": "ENST00000560424.2",
"protein_id": "ENSP00000455540.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": -4,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2915,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.207-10G>A",
"hgvs_p": null,
"transcript": "ENST00000714110.1",
"protein_id": "ENSP00000519402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
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"cdna_length": 2726,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.75-10G>A",
"hgvs_p": null,
"transcript": "NM_001145103.2",
"protein_id": "NP_001138575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5785,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.207-10G>A",
"hgvs_p": null,
"transcript": "NM_001407012.1",
"protein_id": "NP_001393941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6332,
"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": 8,
"intron_rank": 1,
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"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.207-10G>A",
"hgvs_p": null,
"transcript": "ENST00000714109.1",
"protein_id": "ENSP00000519401.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 381,
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.207-10G>A",
"hgvs_p": null,
"transcript": "NM_001407013.1",
"protein_id": "NP_001393942.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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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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"gene_symbol": "SMAD3",
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"hgvs_c": "c.60-10G>A",
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"transcript": "NM_001407014.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "SMAD3",
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"hgvs_c": "c.-109-10G>A",
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"transcript": "NM_001145102.2",
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},
{
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"strand": true,
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],
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"gene_symbol": "SMAD3",
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"hgvs_c": "c.-109-10G>A",
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"transcript": "NM_001407016.1",
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},
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],
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"transcript": "ENST00000558739.2",
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},
{
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],
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"gene_symbol": "SMAD3",
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"hgvs_c": "c.-109-10G>A",
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"transcript": "ENST00000559460.6",
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},
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],
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},
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],
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"gene_symbol": "SMAD3",
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"hgvs_c": "c.-109-10G>A",
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"transcript": "ENST00000681239.1",
"protein_id": "ENSP00000505641.1",
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},
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "SMAD3",
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"hgvs_c": "c.207-10G>A",
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},
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],
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},
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],
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"intron_rank": 1,
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"gene_symbol": "SMAD3",
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"hgvs_c": "c.-109-10G>A",
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"transcript": "ENST00000560175.5",
"protein_id": "ENSP00000455095.1",
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"biotype": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.-109-10G>A",
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"transcript": "ENST00000559092.2",
"protein_id": "ENSP00000453788.2",
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},
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "n.57-10G>A",
"hgvs_p": null,
"transcript": "ENST00000559937.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 579,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "n.207-32G>A",
"hgvs_p": null,
"transcript": "ENST00000714107.1",
"protein_id": "ENSP00000519399.1",
"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": 6435,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "n.-109-10G>A",
"hgvs_p": null,
"transcript": "ENST00000714111.1",
"protein_id": "ENSP00000519403.1",
"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": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"dbsnp": "rs201912204",
"frequency_reference_population": 0.00028897647,
"hom_count_reference_population": 3,
"allele_count_reference_population": 466,
"gnomad_exomes_af": 0.0002931,
"gnomad_genomes_af": 0.000249449,
"gnomad_exomes_ac": 428,
"gnomad_genomes_ac": 38,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"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": 0.024000000208616257,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.51,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000514406506886092,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000327367.9",
"gene_symbol": "SMAD3",
"hgnc_id": 6769,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.207-10G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Aneurysm-osteoarthritis syndrome,Connective tissue disorder,Ehlers-Danlos syndrome,Familial thoracic aortic aneurysm and aortic dissection,Loeys-Dietz syndrome,SMAD3-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:4 B:4",
"phenotype_combined": "not specified|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|Connective tissue disorder|not provided|Ehlers-Danlos syndrome|Aneurysm-osteoarthritis syndrome|SMAD3-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}