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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: 12-56334216-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56334216&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "IL23A",
"hgnc_id": 15488,
"hgvs_c": "n.9G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000619177.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "PAN2",
"hgnc_id": 20074,
"hgvs_c": "c.-469C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001394699.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 29875,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 740,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000619177.1",
"gene_hgnc_id": 15488,
"gene_symbol": "IL23A",
"hgvs_c": "n.9G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000619177.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 709,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000622119.4",
"gene_hgnc_id": 15488,
"gene_symbol": "IL23A",
"hgvs_c": "n.43G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000622119.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1198,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4523,
"cdna_start": null,
"cds_end": null,
"cds_length": 3597,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014871.6",
"gene_hgnc_id": 20074,
"gene_symbol": "PAN2",
"hgvs_c": "c.-469C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000440411.8",
"protein_coding": true,
"protein_id": "NP_055686.4",
"strand": true,
"transcript": "NM_014871.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1198,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4523,
"cdna_start": null,
"cds_end": null,
"cds_length": 3597,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000440411.8",
"gene_hgnc_id": 20074,
"gene_symbol": "PAN2",
"hgvs_c": "c.-469C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014871.6",
"protein_coding": true,
"protein_id": "ENSP00000388231.3",
"strand": true,
"transcript": "ENST00000440411.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1201,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4537,
"cdna_start": null,
"cds_end": null,
"cds_length": 3606,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000257931.9",
"gene_hgnc_id": 20074,
"gene_symbol": "PAN2",
"hgvs_c": "c.-469C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000257931.5",
"strand": true,
"transcript": "ENST00000257931.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1226,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4579,
"cdna_start": null,
"cds_end": null,
"cds_length": 3681,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954125.1",
"gene_hgnc_id": 20074,
"gene_symbol": "PAN2",
"hgvs_c": "c.-469C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624184.1",
"strand": true,
"transcript": "ENST00000954125.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1225,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4610,
"cdna_start": null,
"cds_end": null,
"cds_length": 3678,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954123.1",
"gene_hgnc_id": 20074,
"gene_symbol": "PAN2",
"hgvs_c": "c.-469C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624182.1",
"strand": true,
"transcript": "ENST00000954123.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1212,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": null,
"cds_end": null,
"cds_length": 3639,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915379.1",
"gene_hgnc_id": 20074,
"gene_symbol": "PAN2",
"hgvs_c": "c.-469C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585438.1",
"strand": true,
"transcript": "ENST00000915379.1",
"transcript_support_level": null
},
{
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"aa_length": 1210,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4532,
"cdna_start": null,
"cds_end": null,
"cds_length": 3633,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885821.1",
"gene_hgnc_id": 20074,
"gene_symbol": "PAN2",
"hgvs_c": "c.-469C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000555880.1",
"strand": true,
"transcript": "ENST00000885821.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4541,
"cdna_start": null,
"cds_end": null,
"cds_length": 3627,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885819.1",
"gene_hgnc_id": 20074,
"gene_symbol": "PAN2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000555878.1",
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},
{
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000954124.1",
"gene_hgnc_id": 20074,
"gene_symbol": "PAN2",
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"mane_plus": null,
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},
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"consequences": [
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],
"exon_count": 26,
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"feature": "ENST00000915378.1",
"gene_hgnc_id": 20074,
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},
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],
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"feature": "ENST00000915376.1",
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"protein_coding": true,
"protein_id": "ENSP00000585435.1",
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"transcript": "ENST00000915376.1",
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},
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"consequences": [
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],
"exon_count": 26,
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"feature": "NM_001394699.1",
"gene_hgnc_id": 20074,
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},
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"consequences": [
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],
"exon_count": 26,
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"feature": "ENST00000610546.4",
"gene_hgnc_id": 20074,
"gene_symbol": "PAN2",
"hgvs_c": "c.-469C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000481859.1",
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"transcript": "ENST00000610546.4",
"transcript_support_level": 5
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 26,
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"feature": "NM_001166279.3",
"gene_hgnc_id": 20074,
"gene_symbol": "PAN2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001159751.2",
"strand": true,
"transcript": "NM_001166279.3",
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},
{
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"consequences": [
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],
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"feature": "ENST00000915380.1",
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},
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],
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"feature": "NM_001394701.1",
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},
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"consequences": [
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],
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"feature": "ENST00000885816.1",
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},
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 26,
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"exon_rank_end": null,
"feature": "ENST00000915383.1",
"gene_hgnc_id": 20074,
"gene_symbol": "PAN2",
"hgvs_c": "c.-469C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000585442.1",
"strand": true,
"transcript": "ENST00000915383.1",
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},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 26,
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"feature": "ENST00000915381.1",
"gene_hgnc_id": 20074,
"gene_symbol": "PAN2",
"hgvs_c": "c.-469C>T",
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