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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: 12-110687264-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=110687264&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 110687264,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000242607.13",
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HVCN1",
"gene_hgnc_id": 28240,
"hgvs_c": "c.-20+1361G>T",
"hgvs_p": null,
"transcript": "NM_032369.4",
"protein_id": "NP_115745.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": "ENST00000242607.13",
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HVCN1",
"gene_hgnc_id": 28240,
"hgvs_c": "c.-20+1361G>T",
"hgvs_p": null,
"transcript": "ENST00000242607.13",
"protein_id": "ENSP00000242607.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": "NM_032369.4",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HVCN1",
"gene_hgnc_id": 28240,
"hgvs_c": "c.-20+711G>T",
"hgvs_p": null,
"transcript": "ENST00000356742.9",
"protein_id": "ENSP00000349181.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2189,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HVCN1",
"gene_hgnc_id": 28240,
"hgvs_c": "c.-20+1361G>T",
"hgvs_p": null,
"transcript": "NM_001040107.2",
"protein_id": "NP_001035196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1701,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HVCN1",
"gene_hgnc_id": 28240,
"hgvs_c": "c.-20+1361G>T",
"hgvs_p": null,
"transcript": "ENST00000548312.5",
"protein_id": "ENSP00000449601.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": -4,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1301,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HVCN1",
"gene_hgnc_id": 28240,
"hgvs_c": "c.-40+1361G>T",
"hgvs_p": null,
"transcript": "NM_001256413.2",
"protein_id": "NP_001243342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": -4,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1661,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HVCN1",
"gene_hgnc_id": 28240,
"hgvs_c": "c.-40+1361G>T",
"hgvs_p": null,
"transcript": "ENST00000439744.6",
"protein_id": "ENSP00000412052.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": -4,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1215,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HVCN1",
"gene_hgnc_id": 28240,
"hgvs_c": "c.-20+1361G>T",
"hgvs_p": null,
"transcript": "ENST00000549442.5",
"protein_id": "ENSP00000450106.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": -4,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 829,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HVCN1",
"gene_hgnc_id": 28240,
"hgvs_c": "c.-20+1361G>T",
"hgvs_p": null,
"transcript": "ENST00000546713.5",
"protein_id": "ENSP00000447227.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": -4,
"cds_end": null,
"cds_length": 235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 539,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HVCN1",
"gene_hgnc_id": 28240,
"hgvs_c": "n.178+1361G>T",
"hgvs_p": null,
"transcript": "ENST00000546425.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 788,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HVCN1",
"gene_hgnc_id": 28240,
"hgvs_c": "c.-20+1361G>T",
"hgvs_p": null,
"transcript": "XM_011538838.3",
"protein_id": "XP_011537140.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 320,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "HVCN1",
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"hgvs_c": "c.-20+1361G>T",
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"transcript": "XM_011538839.3",
"protein_id": "XP_011537141.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "HVCN1",
"gene_hgnc_id": 28240,
"hgvs_c": "c.-20+1361G>T",
"hgvs_p": null,
"transcript": "XM_011538840.4",
"protein_id": "XP_011537142.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "HVCN1",
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"hgvs_c": "c.-20+1361G>T",
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"transcript": "XM_011538841.3",
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},
{
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],
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"gene_symbol": "HVCN1",
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"hgvs_c": "c.-20+1361G>T",
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"transcript": "XM_011538842.3",
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},
{
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "HVCN1",
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"hgvs_c": "c.-20+1361G>T",
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"transcript": "XM_011538844.3",
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},
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],
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"gene_symbol": "HVCN1",
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"hgvs_c": "c.-20+1361G>T",
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"transcript": "XM_017020026.3",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "HVCN1",
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"hgvs_c": "c.-20+1361G>T",
"hgvs_p": null,
"transcript": "XM_047429669.1",
"protein_id": "XP_047285625.1",
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},
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],
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"gene_symbol": "HVCN1",
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"hgvs_c": "c.-20+1361G>T",
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"transcript": "XM_005253948.3",
"protein_id": "XP_005254005.1",
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],
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},
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],
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"gene_symbol": "HVCN1",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "HVCN1",
"gene_hgnc_id": 28240,
"hgvs_c": "c.-20+1361G>T",
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"transcript": "XM_011538847.2",
"protein_id": "XP_011537149.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HVCN1",
"gene_hgnc_id": 28240,
"hgvs_c": "c.-20+1361G>T",
"hgvs_p": null,
"transcript": "XM_017020027.2",
"protein_id": "XP_016875516.1",
"transcript_support_level": null,
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{
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{
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}
],
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"gnomad_genomes_ac": 204,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": null,
"splice_source_selected": null,
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"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong"
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"verdict": "Likely_benign",
"transcript": "ENST00000242607.13",
"gene_symbol": "HVCN1",
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"effects": [
"intron_variant"
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"inheritance_mode": "AR",
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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
}