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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: 11-44572256-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=44572256&ref=C&alt=T&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": "CD82",
"hgnc_id": 6210,
"hgvs_c": "c.-103+6520C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_002231.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 85530,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.93,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9300000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2212,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002231.4",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-103+6520C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000227155.9",
"protein_coding": true,
"protein_id": "NP_002222.1",
"strand": true,
"transcript": "NM_002231.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2212,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000227155.9",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-103+6520C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002231.4",
"protein_coding": true,
"protein_id": "ENSP00000227155.4",
"strand": true,
"transcript": "ENST00000227155.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 314,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1234,
"cdna_start": null,
"cds_end": null,
"cds_length": 945,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878578.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-103+6520C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548637.1",
"strand": true,
"transcript": "ENST00000878578.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2212,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878563.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-103+7779C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548622.1",
"strand": true,
"transcript": "ENST00000878563.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2295,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878564.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-103+5926C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548623.1",
"strand": true,
"transcript": "ENST00000878564.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1703,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878566.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-103+6516C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548625.1",
"strand": true,
"transcript": "ENST00000878566.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1673,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878567.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-99+6520C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548626.1",
"strand": true,
"transcript": "ENST00000878567.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878568.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-253+6520C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548627.1",
"strand": true,
"transcript": "ENST00000878568.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1561,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878571.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-21+6520C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548630.1",
"strand": true,
"transcript": "ENST00000878571.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878572.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-103+5875C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548631.1",
"strand": true,
"transcript": "ENST00000878572.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878574.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-480+6520C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548633.1",
"strand": true,
"transcript": "ENST00000878574.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1802,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
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"consequences": [
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],
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"feature": "ENST00000878575.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548634.1",
"strand": true,
"transcript": "ENST00000878575.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000878576.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548635.1",
"strand": true,
"transcript": "ENST00000878576.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878579.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-103+3852C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548638.1",
"strand": true,
"transcript": "ENST00000878579.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000878580.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-103+1310C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548639.1",
"strand": true,
"transcript": "ENST00000878580.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925720.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-103+5875C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000595779.1",
"strand": true,
"transcript": "ENST00000925720.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2835,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968150.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-103+6520C>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000638209.1",
"strand": true,
"transcript": "ENST00000968150.1",
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},
{
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"cds_start": null,
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],
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"feature": "ENST00000968151.1",
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"protein_coding": true,
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"strand": true,
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},
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"consequences": [
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],
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"feature": "ENST00000968153.1",
"gene_hgnc_id": 6210,
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"protein_coding": true,
"protein_id": "ENSP00000638212.1",
"strand": true,
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000968155.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-280+6195C>T",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000638214.1",
"strand": true,
"transcript": "ENST00000968155.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1775,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968156.1",
"gene_hgnc_id": 6210,
"gene_symbol": "CD82",
"hgvs_c": "c.-103+6195C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638215.1",
"strand": true,
"transcript": "ENST00000968156.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1848,
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