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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: 10-27171103-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27171103&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MASTL",
"hgnc_id": 19042,
"hgvs_c": "c.2124+20A>C",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001320757.2",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ACBD5",
"hgnc_id": 23338,
"hgvs_c": "c.1272-833T>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -10,
"transcript": "ENST00000677440.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_score": -10,
"allele_count_reference_population": 1175,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "10",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 879,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4132,
"cdna_start": null,
"cds_end": null,
"cds_length": 2640,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001172303.3",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.2124+20A>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375940.9",
"protein_coding": true,
"protein_id": "NP_001165774.1",
"strand": true,
"transcript": "NM_001172303.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 879,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4132,
"cdna_start": null,
"cds_end": null,
"cds_length": 2640,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000375940.9",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.2124+20A>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001172303.3",
"protein_coding": true,
"protein_id": "ENSP00000365107.5",
"strand": true,
"transcript": "ENST00000375940.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 878,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": null,
"cds_end": null,
"cds_length": 2637,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000375946.8",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.2124+20A>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365113.4",
"strand": true,
"transcript": "ENST00000375946.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 884,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4147,
"cdna_start": null,
"cds_end": null,
"cds_length": 2655,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320757.2",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.2124+20A>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307686.1",
"strand": true,
"transcript": "NM_001320757.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 884,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5072,
"cdna_start": null,
"cds_end": null,
"cds_length": 2655,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969651.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.2124+20A>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639710.1",
"strand": true,
"transcript": "ENST00000969651.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 883,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4144,
"cdna_start": null,
"cds_end": null,
"cds_length": 2652,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320756.2",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.2124+20A>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307685.1",
"strand": true,
"transcript": "NM_001320756.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 883,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3950,
"cdna_start": null,
"cds_end": null,
"cds_length": 2652,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969653.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.2124+20A>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639712.1",
"strand": true,
"transcript": "ENST00000969653.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 878,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4129,
"cdna_start": null,
"cds_end": null,
"cds_length": 2637,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032844.5",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.2124+20A>C",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_116233.2",
"strand": true,
"transcript": "NM_032844.5",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000933942.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.2124+20A>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000604001.1",
"strand": true,
"transcript": "ENST00000933942.1",
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},
{
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"cdna_start": null,
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"consequences": [
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],
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"feature": "ENST00000896815.1",
"gene_hgnc_id": 19042,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000566874.1",
"strand": true,
"transcript": "ENST00000896815.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
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"feature": "ENST00000896814.1",
"gene_hgnc_id": 19042,
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"transcript": "ENST00000896814.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001172304.3",
"gene_hgnc_id": 19042,
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},
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],
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"feature": "ENST00000342386.10",
"gene_hgnc_id": 19042,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000343446.5",
"strand": true,
"transcript": "ENST00000342386.10",
"transcript_support_level": 2
},
{
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],
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"feature": "ENST00000933947.1",
"gene_hgnc_id": 19042,
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"hgvs_c": "c.1986+20A>C",
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},
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"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000933948.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.1986+20A>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000604007.1",
"strand": true,
"transcript": "ENST00000933948.1",
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},
{
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000933941.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.2124+20A>C",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000604000.1",
"strand": true,
"transcript": "ENST00000933941.1",
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},
{
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"feature": "NM_001372029.1",
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},
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],
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"feature": "NM_001372030.1",
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},
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],
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"feature": "ENST00000933944.1",
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"protein_coding": true,
"protein_id": "ENSP00000604003.1",
"strand": true,
"transcript": "ENST00000933944.1",
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},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000933946.1",
"gene_hgnc_id": 19042,
"gene_symbol": "MASTL",
"hgvs_c": "c.985-2018A>C",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000604005.1",
"strand": true,
"transcript": "ENST00000933946.1",
"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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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
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"feature": "ENST00000477034.2",
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