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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: 15-67165393-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=67165393&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 67165393,
"ref": "G",
"alt": "T",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.532+9G>T",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.532+9G>T",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.400+9G>T",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.217+9G>T",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.532+9G>T",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.532+9G>T",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.565+9G>T",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.400+9G>T",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.400+305G>T",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.400+305G>T",
"hgvs_p": null,
"transcript": "ENST00000714109.1",
"protein_id": "ENSP00000519401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.532+9G>T",
"hgvs_p": null,
"transcript": "NM_001407013.1",
"protein_id": "NP_001393942.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 379,
"cds_start": -4,
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"cdna_start": null,
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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": 9,
"intron_rank": 3,
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"gene_symbol": "SMAD3",
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"hgvs_c": "c.385+9G>T",
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"transcript": "NM_001407014.1",
"protein_id": "NP_001393943.1",
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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.217+9G>T",
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"transcript": "NM_001145102.2",
"protein_id": "NP_001138574.1",
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"aa_start": null,
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},
{
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"strand": true,
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],
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"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.217+9G>T",
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"transcript": "NM_001407016.1",
"protein_id": "NP_001393945.1",
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},
{
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],
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"gene_symbol": "SMAD3",
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"hgvs_c": "c.217+9G>T",
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"transcript": "ENST00000558739.2",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "SMAD3",
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"hgvs_c": "c.217+9G>T",
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"transcript": "ENST00000559460.6",
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},
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],
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"gene_symbol": "SMAD3",
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"transcript": "ENST00000679624.1",
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},
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],
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"gene_symbol": "SMAD3",
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"hgvs_c": "c.217+9G>T",
"hgvs_p": null,
"transcript": "ENST00000681239.1",
"protein_id": "ENSP00000505641.1",
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},
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
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"gene_symbol": "SMAD3",
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"hgvs_c": "c.532+9G>T",
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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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"intron_rank": 3,
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"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.217+9G>T",
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"transcript": "ENST00000560175.5",
"protein_id": "ENSP00000455095.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "n.382+9G>T",
"hgvs_p": null,
"transcript": "ENST00000559937.1",
"protein_id": null,
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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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "n.*186+9G>T",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "n.217+9G>T",
"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": "rs774868030",
"frequency_reference_population": 0.0000054735287,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547353,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"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": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -6.902,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000327367.9",
"gene_symbol": "SMAD3",
"hgnc_id": 6769,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.532+9G>T",
"hgvs_p": null
}
],
"clinvar_disease": "Familial thoracic aortic aneurysm and aortic dissection",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Familial thoracic aortic aneurysm and aortic dissection",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}