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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: 19-41889215-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41889215&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ARHGEF1",
"hgnc_id": 681,
"hgvs_c": "c.225+350A>G",
"hgvs_p": null,
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001396000.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 37717,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 912,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": null,
"cds_end": null,
"cds_length": 2739,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004706.4",
"gene_hgnc_id": 681,
"gene_symbol": "ARHGEF1",
"hgvs_c": "c.225+350A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354532.8",
"protein_coding": true,
"protein_id": "NP_004697.2",
"strand": true,
"transcript": "NM_004706.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 912,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": null,
"cds_end": null,
"cds_length": 2739,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354532.8",
"gene_hgnc_id": 681,
"gene_symbol": "ARHGEF1",
"hgvs_c": "c.225+350A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004706.4",
"protein_coding": true,
"protein_id": "ENSP00000346532.3",
"strand": true,
"transcript": "ENST00000354532.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 948,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": null,
"cds_end": null,
"cds_length": 2847,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378152.8",
"gene_hgnc_id": 681,
"gene_symbol": "ARHGEF1",
"hgvs_c": "c.270+350A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367394.3",
"strand": true,
"transcript": "ENST00000378152.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 927,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3171,
"cdna_start": null,
"cds_end": null,
"cds_length": 2784,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000337665.8",
"gene_hgnc_id": 681,
"gene_symbol": "ARHGEF1",
"hgvs_c": "c.270+350A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000337261.3",
"strand": true,
"transcript": "ENST00000337665.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 879,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3091,
"cdna_start": null,
"cds_end": null,
"cds_length": 2640,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000347545.8",
"gene_hgnc_id": 681,
"gene_symbol": "ARHGEF1",
"hgvs_c": "c.225+350A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344429.3",
"strand": true,
"transcript": "ENST00000347545.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000600274.5",
"gene_hgnc_id": 681,
"gene_symbol": "ARHGEF1",
"hgvs_c": "n.351+350A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000600274.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 986,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3418,
"cdna_start": null,
"cds_end": null,
"cds_length": 2961,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953278.1",
"gene_hgnc_id": 681,
"gene_symbol": "ARHGEF1",
"hgvs_c": "c.225+350A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623337.1",
"strand": true,
"transcript": "ENST00000953278.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 986,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3492,
"cdna_start": null,
"cds_end": null,
"cds_length": 2961,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953286.1",
"gene_hgnc_id": 681,
"gene_symbol": "ARHGEF1",
"hgvs_c": "c.225+350A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623345.1",
"strand": true,
"transcript": "ENST00000953286.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2928,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000698932.1",
"gene_hgnc_id": 681,
"gene_symbol": "ARHGEF1",
"hgvs_c": "c.225+350A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514042.1",
"strand": true,
"transcript": "ENST00000698932.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2919,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000706938.1",
"gene_hgnc_id": 681,
"gene_symbol": "ARHGEF1",
"hgvs_c": "c.225+350A>G",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516658.1",
"strand": true,
"transcript": "ENST00000706938.1",
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},
{
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"consequences": [
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],
"exon_count": 32,
"exon_rank": null,
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"feature": "ENST00000953280.1",
"gene_hgnc_id": 681,
"gene_symbol": "ARHGEF1",
"hgvs_c": "c.225+350A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000623339.1",
"strand": true,
"transcript": "ENST00000953280.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000953285.1",
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"protein_coding": true,
"protein_id": "ENSP00000623344.1",
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"transcript": "ENST00000953285.1",
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},
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],
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"feature": "ENST00000953288.1",
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"protein_coding": true,
"protein_id": "ENSP00000623347.1",
"strand": true,
"transcript": "ENST00000953288.1",
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},
{
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"consequences": [
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],
"exon_count": 30,
"exon_rank": null,
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"feature": "NM_001396000.1",
"gene_hgnc_id": 681,
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"hgvs_c": "c.225+350A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001382929.1",
"strand": true,
"transcript": "NM_001396000.1",
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},
{
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],
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"feature": "ENST00000599846.6",
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"protein_coding": true,
"protein_id": "ENSP00000470715.1",
"strand": true,
"transcript": "ENST00000599846.6",
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},
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"consequences": [
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],
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"feature": "ENST00000854356.1",
"gene_hgnc_id": 681,
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"hgvs_c": "c.225+350A>G",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000524415.1",
"strand": true,
"transcript": "ENST00000854356.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 28,
"exon_rank": null,
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"feature": "NM_001396006.1",
"gene_hgnc_id": 681,
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"protein_coding": true,
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"strand": true,
"transcript": "NM_001396006.1",
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},
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],
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"feature": "ENST00000854350.1",
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},
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],
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"feature": "NM_001396003.1",
"gene_hgnc_id": 681,
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"strand": true,
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},
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"consequences": [
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],
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"feature": "ENST00000953275.1",
"gene_hgnc_id": 681,
"gene_symbol": "ARHGEF1",
"hgvs_c": "c.225+350A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000623334.1",
"strand": true,
"transcript": "ENST00000953275.1",
"transcript_support_level": null
},
{
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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": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953287.1",
"gene_hgnc_id": 681,
"gene_symbol": "ARHGEF1",
"hgvs_c": "c.225+350A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623346.1",
"strand": true,
"transcript": "ENST00000953287.1",
"transcript_support_level": null
},
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