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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: 1-109753021-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109753021&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 109753021,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000361965.9",
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1200+96C>A",
"hgvs_p": null,
"transcript": "NM_133181.4",
"protein_id": "NP_573444.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 593,
"cds_start": -4,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": "ENST00000361965.9",
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1200+96C>A",
"hgvs_p": null,
"transcript": "ENST00000361965.9",
"protein_id": "ENSP00000355255.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 593,
"cds_start": -4,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": "NM_133181.4",
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1203+96C>A",
"hgvs_p": null,
"transcript": "ENST00000369805.7",
"protein_id": "ENSP00000358820.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": -4,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2325,
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1200+96C>A",
"hgvs_p": null,
"transcript": "ENST00000361852.8",
"protein_id": "ENSP00000354551.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 563,
"cds_start": -4,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2130,
"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": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "n.*1169+96C>A",
"hgvs_p": null,
"transcript": "ENST00000472325.5",
"protein_id": "ENSP00000483789.1",
"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": 1806,
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1203+96C>A",
"hgvs_p": null,
"transcript": "NM_139053.3",
"protein_id": "NP_620641.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": -4,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2222,
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1200+96C>A",
"hgvs_p": null,
"transcript": "NM_024526.4",
"protein_id": "NP_078802.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 563,
"cds_start": -4,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
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"cdna_length": 2129,
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1101+96C>A",
"hgvs_p": null,
"transcript": "NM_001319952.2",
"protein_id": "NP_001306881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 530,
"cds_start": -4,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2077,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GSTM5",
"gene_hgnc_id": 4637,
"hgvs_c": "n.83-22051G>T",
"hgvs_p": null,
"transcript": "ENST00000429410.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000241720",
"gene_hgnc_id": null,
"hgvs_c": "n.627+15880G>T",
"hgvs_p": null,
"transcript": "ENST00000431955.1",
"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": 808,
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1227+96C>A",
"hgvs_p": null,
"transcript": "XM_011542132.3",
"protein_id": "XP_011540434.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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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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"exon_count": 19,
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"gene_symbol": "EPS8L3",
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"hgvs_c": "c.1224+96C>A",
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"transcript": "XM_011542133.3",
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},
{
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"consequences": [
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],
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"gene_symbol": "EPS8L3",
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"hgvs_c": "c.1227+96C>A",
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"transcript": "XM_017002327.3",
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},
{
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],
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"gene_symbol": "EPS8L3",
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"hgvs_c": "c.1227+96C>A",
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},
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],
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},
{
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],
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"gene_symbol": "EPS8L3",
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],
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"gene_symbol": "EPS8L3",
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"hgvs_c": "c.1125+96C>A",
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},
{
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],
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"gene_symbol": "EPS8L3",
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"hgvs_c": "c.1203+96C>A",
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"transcript": "XM_017002329.3",
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},
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],
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"gene_symbol": "EPS8L3",
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],
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],
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},
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"strand": false,
"consequences": [
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],
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"gene_symbol": "EPS8L3",
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"hgvs_c": "c.1125+96C>A",
"hgvs_p": null,
"transcript": "XM_011542135.4",
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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": 13,
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"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "n.1353+96C>A",
"hgvs_p": null,
"transcript": "XR_001737407.3",
"protein_id": null,
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{
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
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{
"score": -12,
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000429410.2",
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{
"score": -12,
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"verdict": "Benign",
"transcript": "ENST00000431955.1",
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"inheritance_mode": "",
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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
}