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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: 8-102858590-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=102858590&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": "AZIN1",
"hgnc_id": 16432,
"hgvs_c": "c.-379-440T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_015878.5",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000289653",
"hgnc_id": null,
"hgvs_c": "c.55-440T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000695129.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 57153,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.92,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9200000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 448,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4196,
"cdna_start": null,
"cds_end": null,
"cds_length": 1347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_148174.4",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
"hgvs_c": "c.-233-440T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000337198.10",
"protein_coding": true,
"protein_id": "NP_680479.1",
"strand": false,
"transcript": "NM_148174.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 448,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4196,
"cdna_start": null,
"cds_end": null,
"cds_length": 1347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000337198.10",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
"hgvs_c": "c.-233-440T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_148174.4",
"protein_coding": true,
"protein_id": "ENSP00000337180.5",
"strand": false,
"transcript": "ENST00000337198.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 448,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2857,
"cdna_start": null,
"cds_end": null,
"cds_length": 1347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000347770.8",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
"hgvs_c": "c.-379-440T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000321507.4",
"strand": false,
"transcript": "ENST00000347770.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 52,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 159,
"cdna_start": null,
"cds_end": null,
"cds_length": 159,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695129.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000289653",
"hgvs_c": "c.55-440T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511718.1",
"strand": false,
"transcript": "ENST00000695129.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 479,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": null,
"cds_end": null,
"cds_length": 1440,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682014.1",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
"hgvs_c": "c.-215-440T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507940.1",
"strand": false,
"transcript": "ENST00000682014.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 448,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4397,
"cdna_start": null,
"cds_end": null,
"cds_length": 1347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363024.1",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
"hgvs_c": "c.-391-440T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349953.1",
"strand": false,
"transcript": "NM_001363024.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 448,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": null,
"cds_end": null,
"cds_length": 1347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363083.1",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
"hgvs_c": "c.-400-440T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350012.1",
"strand": false,
"transcript": "NM_001363083.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 448,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4385,
"cdna_start": null,
"cds_end": null,
"cds_length": 1347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015878.5",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
"hgvs_c": "c.-379-440T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056962.2",
"strand": false,
"transcript": "NM_015878.5",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 448,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4404,
"cdna_start": null,
"cds_end": null,
"cds_length": 1347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681985.1",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
"hgvs_c": "c.-215-440T>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000506898.1",
"strand": false,
"transcript": "ENST00000681985.1",
"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": 4317,
"cdna_start": null,
"cds_end": null,
"cds_length": 1347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000682725.1",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
"hgvs_c": "c.-233-440T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000507451.1",
"strand": false,
"transcript": "ENST00000682725.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 4580,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 13,
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"feature": "ENST00000684566.1",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
"hgvs_c": "c.-391-440T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000506895.1",
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"transcript": "ENST00000684566.1",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 12,
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"feature": "NM_001363010.1",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001349939.1",
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},
{
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],
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"feature": "NM_001363011.1",
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"gene_symbol": "AZIN1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001349940.1",
"strand": false,
"transcript": "NM_001363011.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "NM_001363012.1",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
"hgvs_c": "c.-391-440T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001349941.1",
"strand": false,
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},
{
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000683787.1",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
"hgvs_c": "c.-391-440T>C",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000508352.1",
"strand": false,
"transcript": "ENST00000683787.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "NM_001301668.3",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
"hgvs_c": "c.-233-440T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001288597.1",
"strand": false,
"transcript": "NM_001301668.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000682969.1",
"gene_hgnc_id": 16432,
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},
{
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],
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"feature": "ENST00000683965.1",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
"hgvs_c": "c.-400-440T>C",
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"protein_coding": true,
"protein_id": "ENSP00000507890.1",
"strand": false,
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},
{
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"consequences": [
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],
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"feature": "ENST00000684721.1",
"gene_hgnc_id": 16432,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000507711.1",
"strand": false,
"transcript": "ENST00000684721.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
"cds_length": 846,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363013.1",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
"hgvs_c": "c.-885-440T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349942.1",
"strand": false,
"transcript": "NM_001363013.1",
"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": 4536,
"cdna_start": null,
"cds_end": null,
"cds_length": 846,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363014.1",
"gene_hgnc_id": 16432,
"gene_symbol": "AZIN1",
"hgvs_c": "c.-1031-440T>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
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