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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: 18-50806997-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=50806997&ref=T&alt=C&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": "MRO",
"hgnc_id": 24121,
"hgvs_c": "c.142-147A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001127176.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 184757,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5200,
"cdna_start": null,
"cds_end": null,
"cds_length": 747,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_031939.6",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.100-147A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000398439.8",
"protein_coding": true,
"protein_id": "NP_114145.2",
"strand": false,
"transcript": "NM_031939.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5200,
"cdna_start": null,
"cds_end": null,
"cds_length": 747,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398439.8",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.100-147A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031939.6",
"protein_coding": true,
"protein_id": "ENSP00000381465.2",
"strand": false,
"transcript": "ENST00000398439.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5166,
"cdna_start": null,
"cds_end": null,
"cds_length": 747,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000256425.6",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.100-147A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000256425.2",
"strand": false,
"transcript": "ENST00000256425.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000585524.5",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "n.245-147A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465783.1",
"strand": false,
"transcript": "ENST00000585524.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 262,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5097,
"cdna_start": null,
"cds_end": null,
"cds_length": 789,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127176.3",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.142-147A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120648.1",
"strand": false,
"transcript": "NM_001127176.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 262,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1125,
"cdna_start": null,
"cds_end": null,
"cds_length": 789,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000436348.6",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.142-147A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397900.1",
"strand": false,
"transcript": "ENST00000436348.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5152,
"cdna_start": null,
"cds_end": null,
"cds_length": 747,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369508.2",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.100-147A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356437.1",
"strand": false,
"transcript": "NM_001369508.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5030,
"cdna_start": null,
"cds_end": null,
"cds_length": 747,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369510.2",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.100-147A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356439.1",
"strand": false,
"transcript": "NM_001369510.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1966,
"cdna_start": null,
"cds_end": null,
"cds_length": 747,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000428869.6",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.100-147A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409509.2",
"strand": false,
"transcript": "ENST00000428869.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": null,
"cds_end": null,
"cds_length": 747,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885778.1",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.100-147A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555837.1",
"strand": false,
"transcript": "ENST00000885778.1",
"transcript_support_level": null
},
{
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"aa_length": 248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5168,
"cdna_start": null,
"cds_end": null,
"cds_length": 747,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885780.1",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.100-147A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555839.1",
"strand": false,
"transcript": "ENST00000885780.1",
"transcript_support_level": null
},
{
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"aa_length": 248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1471,
"cdna_start": null,
"cds_end": null,
"cds_length": 747,
"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000885784.1",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.100-147A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000555843.1",
"strand": false,
"transcript": "ENST00000885784.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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],
"exon_count": 9,
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"feature": "ENST00000885785.1",
"gene_hgnc_id": 24121,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000555844.1",
"strand": false,
"transcript": "ENST00000885785.1",
"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,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127175.3",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.142-147A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120647.1",
"strand": false,
"transcript": "NM_001127175.3",
"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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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000431965.6",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
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"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000392614.1",
"strand": false,
"transcript": "ENST00000431965.6",
"transcript_support_level": 2
},
{
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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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"cds_length": 615,
"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000885782.1",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.100-147A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000555841.1",
"strand": false,
"transcript": "ENST00000885782.1",
"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": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127174.3",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.100-147A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001120646.1",
"strand": false,
"transcript": "NM_001127174.3",
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},
{
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"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "NM_001369511.2",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.100-147A>G",
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
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},
{
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],
"exon_count": 7,
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"exon_rank_end": null,
"feature": "NM_001369515.2",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.100-147A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001356444.1",
"strand": false,
"transcript": "NM_001369515.2",
"transcript_support_level": null
},
{
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"consequences": [
"intron_variant"
],
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"exon_rank": null,
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"feature": "ENST00000588444.5",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.100-147A>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465653.1",
"strand": false,
"transcript": "ENST00000588444.5",
"transcript_support_level": 3
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5102,
"cdna_start": null,
"cds_end": null,
"cds_length": 591,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885779.1",
"gene_hgnc_id": 24121,
"gene_symbol": "MRO",
"hgvs_c": "c.100-147A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555838.1",
"strand": false,
"transcript": "ENST00000885779.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3799,
"cdna_start": null,
"cds_end": null,
"cds_length": 564,
"cds_start": null,
"consequences": [
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