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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: 16-10923201-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=10923201&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CIITA",
"hgnc_id": 7067,
"hgvs_c": "c.3321-27G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001286402.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 618758,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "16",
"clinvar_classification": "Benign",
"clinvar_disease": "MHC class II deficiency,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1130,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16061,
"cdna_start": null,
"cds_end": null,
"cds_length": 3393,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000246.4",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3318-27G>A",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324288.14",
"protein_coding": true,
"protein_id": "NP_000237.2",
"strand": true,
"transcript": "NM_000246.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1130,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16061,
"cdna_start": null,
"cds_end": null,
"cds_length": 3393,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000324288.14",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3318-27G>A",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000246.4",
"protein_coding": true,
"protein_id": "ENSP00000316328.8",
"strand": true,
"transcript": "ENST00000324288.14",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 546,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": null,
"cds_end": null,
"cds_length": 1641,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381835.9",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.1566-27G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371257.5",
"strand": true,
"transcript": "ENST00000381835.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1164,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4631,
"cdna_start": null,
"cds_end": null,
"cds_length": 3495,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886127.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3420-27G>A",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556186.1",
"strand": true,
"transcript": "ENST00000886127.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1131,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4657,
"cdna_start": null,
"cds_end": null,
"cds_length": 3396,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286402.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3321-27G>A",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273331.1",
"strand": true,
"transcript": "NM_001286402.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1131,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4826,
"cdna_start": null,
"cds_end": null,
"cds_length": 3396,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379332.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3321-27G>A",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366261.1",
"strand": true,
"transcript": "NM_001379332.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1131,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4657,
"cdna_start": null,
"cds_end": null,
"cds_length": 3396,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000618327.4",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3321-27G>A",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485010.1",
"strand": true,
"transcript": "ENST00000618327.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1130,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4823,
"cdna_start": null,
"cds_end": null,
"cds_length": 3393,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379333.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3318-27G>A",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366262.1",
"strand": true,
"transcript": "NM_001379333.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5356,
"cdna_start": null,
"cds_end": null,
"cds_length": 3393,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000886125.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3318-27G>A",
"hgvs_p": null,
"intron_rank": 18,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556184.1",
"strand": true,
"transcript": "ENST00000886125.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
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"feature": "ENST00000886126.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3318-27G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556185.1",
"strand": true,
"transcript": "ENST00000886126.1",
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},
{
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"consequences": [
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],
"exon_count": 20,
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"feature": "NM_001379334.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3249-27G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001366263.1",
"strand": true,
"transcript": "NM_001379334.1",
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},
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],
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"feature": "ENST00000886128.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556187.1",
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"transcript": "ENST00000886128.1",
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},
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"protein_coding": true,
"protein_id": "NP_001366259.1",
"strand": true,
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},
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"consequences": [
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],
"exon_count": 19,
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"feature": "ENST00000886124.1",
"gene_hgnc_id": 7067,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000556183.1",
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},
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"feature": "ENST00000969830.1",
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"protein_coding": true,
"protein_id": "ENSP00000639889.1",
"strand": true,
"transcript": "ENST00000969830.1",
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},
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"consequences": [
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],
"exon_count": 19,
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"feature": "NM_001379331.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3171-27G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001366260.1",
"strand": true,
"transcript": "NM_001379331.1",
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},
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"consequences": [
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],
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"feature": "ENST00000886129.1",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.2829-27G>A",
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"mane_plus": null,
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"transcript": "ENST00000886129.1",
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},
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],
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},
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],
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"feature": "ENST00000646979.1",
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},
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"consequences": [
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],
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"feature": "XM_006720880.4",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3615-27G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_006720943.2",
"strand": true,
"transcript": "XM_006720880.4",
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},
{
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"consequences": [
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],
"exon_count": 20,
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"feature": "XM_011522484.4",
"gene_hgnc_id": 7067,
"gene_symbol": "CIITA",
"hgvs_c": "c.3615-27G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011520786.1",
"strand": true,
"transcript": "XM_011522484.4",
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},
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"hom_count_reference_population": 122379,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "MHC class II deficiency|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.591,
"pos": 10923201,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001286402.1"
}
]
}