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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: 1-239813002-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=239813002&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": "CHRM3",
"hgnc_id": 1952,
"hgvs_c": "c.-146-14250A>T",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_000740.4",
"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": -0.92,
"chr": "1",
"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": 590,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9179,
"cdna_start": null,
"cds_end": null,
"cds_length": 1773,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375978.1",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
"hgvs_c": "c.-146-14250A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000676153.1",
"protein_coding": true,
"protein_id": "NP_001362907.1",
"strand": true,
"transcript": "NM_001375978.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 590,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9179,
"cdna_start": null,
"cds_end": null,
"cds_length": 1773,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676153.1",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
"hgvs_c": "c.-146-14250A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001375978.1",
"protein_coding": true,
"protein_id": "ENSP00000502667.1",
"strand": true,
"transcript": "ENST00000676153.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 590,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8780,
"cdna_start": null,
"cds_end": null,
"cds_length": 1773,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000255380.8",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
"hgvs_c": "c.-146-14250A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000255380.4",
"strand": true,
"transcript": "ENST00000255380.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 590,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8778,
"cdna_start": null,
"cds_end": null,
"cds_length": 1773,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000740.4",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
"hgvs_c": "c.-146-14250A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000731.1",
"strand": true,
"transcript": "NM_000740.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 590,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9408,
"cdna_start": null,
"cds_end": null,
"cds_length": 1773,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001347716.2",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
"hgvs_c": "c.-375-13851A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334645.1",
"strand": true,
"transcript": "NM_001347716.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 590,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9116,
"cdna_start": null,
"cds_end": null,
"cds_length": 1773,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375979.1",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
"hgvs_c": "c.-146-14250A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362908.1",
"strand": true,
"transcript": "NM_001375979.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 590,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9017,
"cdna_start": null,
"cds_end": null,
"cds_length": 1773,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375980.1",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
"hgvs_c": "c.-146-14250A>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362909.1",
"strand": true,
"transcript": "NM_001375980.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 590,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9080,
"cdna_start": null,
"cds_end": null,
"cds_length": 1773,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375981.1",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
"hgvs_c": "c.-146-14250A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362910.1",
"strand": true,
"transcript": "NM_001375981.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 590,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9183,
"cdna_start": null,
"cds_end": null,
"cds_length": 1773,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375982.1",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
"hgvs_c": "c.-146-14250A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362911.1",
"strand": true,
"transcript": "NM_001375982.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 590,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9220,
"cdna_start": null,
"cds_end": null,
"cds_length": 1773,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375983.1",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
"hgvs_c": "c.-146-14250A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362912.1",
"strand": true,
"transcript": "NM_001375983.1",
"transcript_support_level": null
},
{
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"aa_length": 590,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9184,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375984.1",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
"hgvs_c": "c.-146-14250A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362913.1",
"strand": true,
"transcript": "NM_001375984.1",
"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": 9121,
"cdna_start": null,
"cds_end": null,
"cds_length": 1773,
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"consequences": [
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],
"exon_count": 6,
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"feature": "NM_001375985.1",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001362914.1",
"strand": true,
"transcript": "NM_001375985.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000615928.5",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000482377.1",
"strand": true,
"transcript": "ENST00000615928.5",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675184.1",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
"hgvs_c": "c.-146-14250A>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502349.1",
"strand": true,
"transcript": "ENST00000675184.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000676433.1",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000502013.1",
"strand": true,
"transcript": "ENST00000676433.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875837.1",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
"hgvs_c": "c.-146-14250A>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000545896.1",
"strand": true,
"transcript": "ENST00000875837.1",
"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,
"cds_length": 1773,
"cds_start": null,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875838.1",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
"hgvs_c": "c.-146-14250A>T",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000545897.1",
"strand": true,
"transcript": "ENST00000875838.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000875839.1",
"gene_hgnc_id": 1952,
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"protein_coding": true,
"protein_id": "ENSP00000545898.1",
"strand": true,
"transcript": "ENST00000875839.1",
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},
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000875840.1",
"gene_hgnc_id": 1952,
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"protein_coding": true,
"protein_id": "ENSP00000545899.1",
"strand": true,
"transcript": "ENST00000875840.1",
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},
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000875841.1",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
"hgvs_c": "c.-146-14250A>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000545900.1",
"strand": true,
"transcript": "ENST00000875841.1",
"transcript_support_level": null
},
{
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"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,
"cds_length": 1773,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875842.1",
"gene_hgnc_id": 1952,
"gene_symbol": "CHRM3",
"hgvs_c": "c.-146-14250A>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545901.1",
"strand": true,
"transcript": "ENST00000875842.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
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