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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: 10-73661450-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73661450&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 73661450,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000606523.1",
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNPO2L",
"gene_hgnc_id": 23532,
"hgvs_c": "c.-103+2250C>T",
"hgvs_p": null,
"transcript": "ENST00000606523.1",
"protein_id": "ENSP00000475768.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 551,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SYNPO2L-AS1",
"gene_hgnc_id": 55242,
"hgvs_c": "n.468-6276G>A",
"hgvs_p": null,
"transcript": "ENST00000606726.2",
"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": 1983,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SYNPO2L-AS1",
"gene_hgnc_id": 55242,
"hgvs_c": "n.460-6825G>A",
"hgvs_p": null,
"transcript": "ENST00000607450.3",
"protein_id": null,
"transcript_support_level": 5,
"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": 2470,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SYNPO2L-AS1",
"gene_hgnc_id": 55242,
"hgvs_c": "n.467+7144G>A",
"hgvs_p": null,
"transcript": "ENST00000668336.2",
"protein_id": null,
"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": 1345,
"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": "SYNPO2L-AS1",
"gene_hgnc_id": 55242,
"hgvs_c": "n.150-13123G>A",
"hgvs_p": null,
"transcript": "ENST00000759288.1",
"protein_id": null,
"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": 1027,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNPO2L-AS1",
"gene_hgnc_id": 55242,
"hgvs_c": "n.138-6276G>A",
"hgvs_p": null,
"transcript": "ENST00000759289.1",
"protein_id": null,
"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": 1649,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNPO2L-AS1",
"gene_hgnc_id": 55242,
"hgvs_c": "n.125-6825G>A",
"hgvs_p": null,
"transcript": "ENST00000759290.1",
"protein_id": null,
"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": 1091,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNPO2L-AS1",
"gene_hgnc_id": 55242,
"hgvs_c": "n.120-5957G>A",
"hgvs_p": null,
"transcript": "ENST00000759291.1",
"protein_id": null,
"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": 1951,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNPO2L-AS1",
"gene_hgnc_id": 55242,
"hgvs_c": "n.120-5957G>A",
"hgvs_p": null,
"transcript": "ENST00000759292.1",
"protein_id": null,
"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": 1820,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNPO2L-AS1",
"gene_hgnc_id": 55242,
"hgvs_c": "n.120-13123G>A",
"hgvs_p": null,
"transcript": "ENST00000759293.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 850,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNPO2L-AS1",
"gene_hgnc_id": 55242,
"hgvs_c": "n.112-6750G>A",
"hgvs_p": null,
"transcript": "ENST00000759294.1",
"protein_id": null,
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"aa_start": 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": 5,
"intron_rank": 1,
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"gene_symbol": "SYNPO2L-AS1",
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"hgvs_c": "n.112-6276G>A",
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"transcript": "ENST00000759295.1",
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "SYNPO2L-AS1",
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"hgvs_c": "n.363+7144G>A",
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"transcript": "ENST00000759296.1",
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},
{
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],
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"gene_symbol": "SYNPO2L-AS1",
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"hgvs_c": "n.120-6825G>A",
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},
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],
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "SYNPO2L-AS1",
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"hgvs_c": "n.387+7144G>A",
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},
{
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],
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},
{
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],
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"gene_symbol": "SYNPO2L-AS1",
"gene_hgnc_id": 55242,
"hgvs_c": "n.267+7148G>A",
"hgvs_p": null,
"transcript": "ENST00000759301.1",
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},
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"strand": true,
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],
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "SYNPO2L-AS1",
"gene_hgnc_id": 55242,
"hgvs_c": "n.266-6825G>A",
"hgvs_p": null,
"transcript": "ENST00000759302.1",
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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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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNPO2L-AS1",
"gene_hgnc_id": 55242,
"hgvs_c": "n.268+7144G>A",
"hgvs_p": null,
"transcript": "ENST00000759306.1",
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},
{
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],
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{
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],
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"gnomad_genomes_ac": 104214,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": null,
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"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": null,
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"BP4_Strong",
"BA1"
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"verdict": "Benign",
"transcript": "ENST00000606523.1",
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"inheritance_mode": "AR",
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{
"score": -12,
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000606726.2",
"gene_symbol": "SYNPO2L-AS1",
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"intron_variant"
],
"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
}