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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: 1-198199889-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=198199889&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": "NEK7",
"hgnc_id": 13386,
"hgvs_c": "c.-28-32664A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_133494.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 15246,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.04,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.0399999618530273,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4114,
"cdna_start": null,
"cds_end": null,
"cds_length": 909,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_133494.3",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
"hgvs_c": "c.-28-32664A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367385.9",
"protein_coding": true,
"protein_id": "NP_598001.1",
"strand": true,
"transcript": "NM_133494.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4114,
"cdna_start": null,
"cds_end": null,
"cds_length": 909,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367385.9",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
"hgvs_c": "c.-28-32664A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_133494.3",
"protein_coding": true,
"protein_id": "ENSP00000356355.4",
"strand": true,
"transcript": "ENST00000367385.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1036,
"cdna_start": null,
"cds_end": null,
"cds_length": 909,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000538004.5",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
"hgvs_c": "c.-28-32664A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444621.1",
"strand": true,
"transcript": "ENST00000538004.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 312,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4116,
"cdna_start": null,
"cds_end": null,
"cds_length": 939,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961625.1",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
"hgvs_c": "c.-28-32664A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631684.1",
"strand": true,
"transcript": "ENST00000961625.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 310,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876084.1",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
"hgvs_c": "c.-28-32664A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546143.1",
"strand": true,
"transcript": "ENST00000876084.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 310,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4175,
"cdna_start": null,
"cds_end": null,
"cds_length": 933,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961630.1",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
"hgvs_c": "c.-125-9794A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631689.1",
"strand": true,
"transcript": "ENST00000961630.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4251,
"cdna_start": null,
"cds_end": null,
"cds_length": 909,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876079.1",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
"hgvs_c": "c.-125-9794A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546138.1",
"strand": true,
"transcript": "ENST00000876079.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": null,
"cds_end": null,
"cds_length": 909,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876085.1",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
"hgvs_c": "c.-237-9794A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546144.1",
"strand": true,
"transcript": "ENST00000876085.1",
"transcript_support_level": null
},
{
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"aa_length": 302,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4236,
"cdna_start": null,
"cds_end": null,
"cds_length": 909,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876086.1",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
"hgvs_c": "c.-28-32664A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546145.1",
"strand": true,
"transcript": "ENST00000876086.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 302,
"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,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000876087.1",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
"hgvs_c": "c.-238-21110A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546146.1",
"strand": true,
"transcript": "ENST00000876087.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000876088.1",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
"hgvs_c": "c.-140-21110A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000546147.1",
"strand": true,
"transcript": "ENST00000876088.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"consequences": [
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],
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"feature": "ENST00000876093.1",
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"gene_symbol": "NEK7",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000546152.1",
"strand": true,
"transcript": "ENST00000876093.1",
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},
{
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],
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"feature": "ENST00000876102.1",
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"protein_coding": true,
"protein_id": "ENSP00000546161.1",
"strand": true,
"transcript": "ENST00000876102.1",
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},
{
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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": 10,
"exon_rank": null,
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"feature": "ENST00000961628.1",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
"hgvs_c": "c.-26-32666A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000631687.1",
"strand": true,
"transcript": "ENST00000961628.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000961634.1",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000631693.1",
"strand": true,
"transcript": "ENST00000961634.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000961640.1",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
"hgvs_c": "c.-29+29806A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631699.1",
"strand": true,
"transcript": "ENST00000961640.1",
"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": 10,
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"feature": "ENST00000961641.1",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
"hgvs_c": "c.-29+29776A>G",
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"protein_coding": true,
"protein_id": "ENSP00000631700.1",
"strand": true,
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},
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],
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"feature": "ENST00000876089.1",
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"protein_id": "ENSP00000546148.1",
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},
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],
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"feature": "ENST00000876095.1",
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"protein_id": "ENSP00000546154.1",
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},
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000961624.1",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
"hgvs_c": "c.-28-32664A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000631683.1",
"strand": true,
"transcript": "ENST00000961624.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961639.1",
"gene_hgnc_id": 13386,
"gene_symbol": "NEK7",
"hgvs_c": "c.-28-32664A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000631698.1",
"strand": true,
"transcript": "ENST00000961639.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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