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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: 20-34745404-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34745404&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 34745404,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000359003.7",
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NCOA6",
"gene_hgnc_id": 15936,
"hgvs_c": "c.2914+1403G>T",
"hgvs_p": null,
"transcript": "NM_014071.5",
"protein_id": "NP_054790.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2063,
"cds_start": -4,
"cds_end": null,
"cds_length": 6192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7083,
"mane_select": "ENST00000359003.7",
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NCOA6",
"gene_hgnc_id": 15936,
"hgvs_c": "c.2914+1403G>T",
"hgvs_p": null,
"transcript": "ENST00000359003.7",
"protein_id": "ENSP00000351894.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2063,
"cds_start": -4,
"cds_end": null,
"cds_length": 6192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7083,
"mane_select": "NM_014071.5",
"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": 11,
"intron_rank_end": null,
"gene_symbol": "NCOA6",
"gene_hgnc_id": 15936,
"hgvs_c": "c.2914+1403G>T",
"hgvs_p": null,
"transcript": "ENST00000374796.6",
"protein_id": "ENSP00000363929.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2063,
"cds_start": -4,
"cds_end": null,
"cds_length": 6192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9311,
"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": 11,
"intron_rank_end": null,
"gene_symbol": "NCOA6",
"gene_hgnc_id": 15936,
"hgvs_c": "c.2914+1403G>T",
"hgvs_p": null,
"transcript": "NM_001318240.1",
"protein_id": "NP_001305169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2063,
"cds_start": -4,
"cds_end": null,
"cds_length": 6192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9291,
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NCOA6",
"gene_hgnc_id": 15936,
"hgvs_c": "c.2914+1403G>T",
"hgvs_p": null,
"transcript": "NM_001438233.1",
"protein_id": "NP_001425162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2062,
"cds_start": -4,
"cds_end": null,
"cds_length": 6189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7080,
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NCOA6",
"gene_hgnc_id": 15936,
"hgvs_c": "c.2881+1403G>T",
"hgvs_p": null,
"transcript": "NM_001438235.1",
"protein_id": "NP_001425164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2052,
"cds_start": -4,
"cds_end": null,
"cds_length": 6159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7050,
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NCOA6",
"gene_hgnc_id": 15936,
"hgvs_c": "c.2878+1403G>T",
"hgvs_p": null,
"transcript": "NM_001438234.1",
"protein_id": "NP_001425163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2051,
"cds_start": -4,
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"cds_length": 6156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7047,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "NCOA6",
"gene_hgnc_id": 15936,
"hgvs_c": "c.2914+1403G>T",
"hgvs_p": null,
"transcript": "NM_001242539.3",
"protein_id": "NP_001229468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": -4,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4104,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "NCOA6",
"gene_hgnc_id": 15936,
"hgvs_c": "c.2914+1403G>T",
"hgvs_p": null,
"transcript": "ENST00000612493.4",
"protein_id": "ENSP00000481177.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": -4,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4082,
"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,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NCOA6",
"gene_hgnc_id": 15936,
"hgvs_c": "c.2914+1403G>T",
"hgvs_p": null,
"transcript": "ENST00000616167.1",
"protein_id": "ENSP00000481935.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 982,
"cds_start": -4,
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"cds_length": 2949,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NCOA6",
"gene_hgnc_id": 15936,
"hgvs_c": "c.301+1403G>T",
"hgvs_p": null,
"transcript": "ENST00000628752.2",
"protein_id": "ENSP00000486894.1",
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"aa_start": null,
"aa_end": 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,
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "ENSG00000286803",
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"hgvs_c": "n.207+3797C>A",
"hgvs_p": null,
"transcript": "ENST00000655046.1",
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"feature": null
},
{
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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": "ENSG00000286803",
"gene_hgnc_id": null,
"hgvs_c": "n.182+3797C>A",
"hgvs_p": null,
"transcript": "ENST00000769397.1",
"protein_id": 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": "ENSG00000286803",
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"hgvs_c": "n.176+3797C>A",
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"transcript": "ENST00000769398.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "ENSG00000286803",
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"transcript": "ENST00000769399.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 11,
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"gene_symbol": "NCOA6",
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"hgvs_c": "c.2986+1403G>T",
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"transcript": "XM_017027739.2",
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},
{
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],
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"intron_rank": 12,
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"gene_symbol": "NCOA6",
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"hgvs_c": "c.2986+1403G>T",
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"transcript": "XM_047440047.1",
"protein_id": "XP_047296003.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NCOA6",
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"hgvs_c": "c.2986+1403G>T",
"hgvs_p": null,
"transcript": "XM_017027741.2",
"protein_id": "XP_016883230.1",
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},
{
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"protein_coding": true,
"strand": false,
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],
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"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NCOA6",
"gene_hgnc_id": 15936,
"hgvs_c": "c.2971+1403G>T",
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"transcript": "XM_017027742.3",
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},
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],
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"gene_symbol": "NCOA6",
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},
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],
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"gene_symbol": "NCOA6",
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},
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NCOA6",
"gene_hgnc_id": 15936,
"hgvs_c": "c.2914+1403G>T",
"hgvs_p": null,
"transcript": "XM_047440049.1",
"protein_id": "XP_047296005.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NCOA6",
"gene_hgnc_id": 15936,
"hgvs_c": "c.2986+1403G>T",
"hgvs_p": null,
"transcript": "XM_017027743.3",
"protein_id": "XP_016883232.1",
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"cdna_start": null,
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"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.411,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000359003.7",
"gene_symbol": "NCOA6",
"hgnc_id": 15936,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2914+1403G>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000655046.1",
"gene_symbol": "ENSG00000286803",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.207+3797C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}