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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: 10-31890256-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=31890256&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ARHGAP12",
"hgnc_id": 16348,
"hgvs_c": "c.684+17916T>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_018287.7",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 846,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5060,
"cdna_start": null,
"cds_end": null,
"cds_length": 2541,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_018287.7",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
"hgvs_c": "c.684+17916T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000344936.7",
"protein_coding": true,
"protein_id": "NP_060757.4",
"strand": false,
"transcript": "NM_018287.7",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 846,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5060,
"cdna_start": null,
"cds_end": null,
"cds_length": 2541,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000344936.7",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
"hgvs_c": "c.684+17916T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018287.7",
"protein_coding": true,
"protein_id": "ENSP00000345808.2",
"strand": false,
"transcript": "ENST00000344936.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 841,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5084,
"cdna_start": null,
"cds_end": null,
"cds_length": 2526,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396144.8",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
"hgvs_c": "c.684+17916T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379448.4",
"strand": false,
"transcript": "ENST00000396144.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 816,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4914,
"cdna_start": null,
"cds_end": null,
"cds_length": 2451,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000375250.9",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
"hgvs_c": "c.684+17916T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364399.5",
"strand": false,
"transcript": "ENST00000375250.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 799,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4958,
"cdna_start": null,
"cds_end": null,
"cds_length": 2400,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000375245.8",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
"hgvs_c": "c.684+17916T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364394.5",
"strand": false,
"transcript": "ENST00000375245.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 794,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4625,
"cdna_start": null,
"cds_end": null,
"cds_length": 2385,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000311380.8",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
"hgvs_c": "c.684+17916T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000310984.4",
"strand": false,
"transcript": "ENST00000311380.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 846,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5035,
"cdna_start": null,
"cds_end": null,
"cds_length": 2541,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955735.1",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
"hgvs_c": "c.684+17916T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625794.1",
"strand": false,
"transcript": "ENST00000955735.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 846,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5033,
"cdna_start": null,
"cds_end": null,
"cds_length": 2541,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955736.1",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
"hgvs_c": "c.684+17916T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625795.1",
"strand": false,
"transcript": "ENST00000955736.1",
"transcript_support_level": null
},
{
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"aa_length": 846,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4058,
"cdna_start": null,
"cds_end": null,
"cds_length": 2541,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955750.1",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
"hgvs_c": "c.684+17916T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625809.1",
"strand": false,
"transcript": "ENST00000955750.1",
"transcript_support_level": null
},
{
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"aa_length": 846,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": null,
"cds_end": null,
"cds_length": 2541,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955751.1",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
"hgvs_c": "c.684+17916T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625810.1",
"strand": false,
"transcript": "ENST00000955751.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 2526,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001270695.1",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
"hgvs_c": "c.684+17916T>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257624.1",
"strand": false,
"transcript": "NM_001270695.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 4052,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000955747.1",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000625806.1",
"strand": false,
"transcript": "ENST00000955747.1",
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},
{
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],
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"feature": "NM_001270696.2",
"gene_hgnc_id": 16348,
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"protein_coding": true,
"protein_id": "NP_001257625.1",
"strand": false,
"transcript": "NM_001270696.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
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"feature": "ENST00000872615.1",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
"hgvs_c": "c.684+17916T>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000542674.1",
"strand": false,
"transcript": "ENST00000872615.1",
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},
{
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"consequences": [
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],
"exon_count": 18,
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"feature": "ENST00000955741.1",
"gene_hgnc_id": 16348,
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"hgvs_c": "c.684+17916T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000625800.1",
"strand": false,
"transcript": "ENST00000955741.1",
"transcript_support_level": null
},
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"cds_start": null,
"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
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"feature": "ENST00000955752.1",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
"hgvs_c": "c.684+17916T>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000625811.1",
"strand": false,
"transcript": "ENST00000955752.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4891,
"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000955737.1",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
"hgvs_c": "c.684+17916T>A",
"hgvs_p": null,
"intron_rank": 3,
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"protein_coding": true,
"protein_id": "ENSP00000625796.1",
"strand": false,
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},
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],
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"feature": "NM_001270697.1",
"gene_hgnc_id": 16348,
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"protein_id": "NP_001257626.1",
"strand": false,
"transcript": "NM_001270697.1",
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},
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],
"exon_count": 19,
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"feature": "ENST00000955745.1",
"gene_hgnc_id": 16348,
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"hgvs_c": "c.684+17916T>A",
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"protein_coding": true,
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"strand": false,
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
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"feature": "NM_001270699.1",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
"hgvs_c": "c.684+17916T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001257628.1",
"strand": false,
"transcript": "NM_001270699.1",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2373,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955739.1",
"gene_hgnc_id": 16348,
"gene_symbol": "ARHGAP12",
"hgvs_c": "c.684+17916T>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625798.1",
"strand": false,
"transcript": "ENST00000955739.1",
"transcript_support_level": null
},
{
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