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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: 7-100679371-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100679371&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100679371,
"ref": "A",
"alt": "G",
"effect": "downstream_gene_variant",
"transcript": "ENST00000303210.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.*2348T>C",
"hgvs_p": null,
"transcript": "NM_001375765.1",
"protein_id": "NP_001362694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": -4,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6559,
"mane_select": "ENST00000678049.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.*2348T>C",
"hgvs_p": null,
"transcript": "ENST00000678049.1",
"protein_id": "ENSP00000503354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": -4,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6559,
"mane_select": "NM_001375765.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.*570A>G",
"hgvs_p": null,
"transcript": "NM_005273.4",
"protein_id": "NP_005264.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": "ENST00000303210.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.*570A>G",
"hgvs_p": null,
"transcript": "ENST00000303210.9",
"protein_id": "ENSP00000305260.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": "NM_005273.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.*2348T>C",
"hgvs_p": null,
"transcript": "ENST00000275732.5",
"protein_id": "ENSP00000275732.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": -4,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB2",
"gene_hgnc_id": 4398,
"hgvs_c": "c.*570A>G",
"hgvs_p": null,
"transcript": "ENST00000393924.1",
"protein_id": "ENSP00000377501.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": -4,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.*2317T>C",
"hgvs_p": null,
"transcript": "NM_001375759.1",
"protein_id": "NP_001362688.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.*2317T>C",
"hgvs_p": null,
"transcript": "NM_001375760.1",
"protein_id": "NP_001362689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1076,
"cds_start": -4,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF1",
"gene_hgnc_id": 9126,
"hgvs_c": "c.*2317T>C",
"hgvs_p": null,
"transcript": "NM_001375761.1",
"protein_id": "NP_001362690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "GIGYF1",
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"transcript": "NM_001375762.1",
"protein_id": "NP_001362691.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "GIGYF1",
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},
{
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],
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},
{
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],
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"gene_symbol": "GIGYF1",
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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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},
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],
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},
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],
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"hgvs_c": "n.*136T>C",
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}
],
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"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": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.784,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000303210.9",
"gene_symbol": "GNB2",
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"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.*570A>G",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000678049.1",
"gene_symbol": "GIGYF1",
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"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*2348T>C",
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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
}