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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: 12-51321897-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51321897&ref=T&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": "BIN2",
"hgnc_id": 1053,
"hgvs_c": "c.81+2125A>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_016293.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 49369,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6700000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 565,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": null,
"cds_end": null,
"cds_length": 1698,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016293.4",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.81+2125A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000615107.6",
"protein_coding": true,
"protein_id": "NP_057377.4",
"strand": false,
"transcript": "NM_016293.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 565,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2231,
"cdna_start": null,
"cds_end": null,
"cds_length": 1698,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000615107.6",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.81+2125A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016293.4",
"protein_coding": true,
"protein_id": "ENSP00000483983.2",
"strand": false,
"transcript": "ENST00000615107.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2781,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000605039.5",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "n.133+2125A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000605039.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 564,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2228,
"cdna_start": null,
"cds_end": null,
"cds_length": 1695,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001364779.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.81+2125A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351708.1",
"strand": false,
"transcript": "NM_001364779.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 564,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": null,
"cds_end": null,
"cds_length": 1695,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871152.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.81+2125A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541211.1",
"strand": false,
"transcript": "ENST00000871152.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 550,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": null,
"cds_end": null,
"cds_length": 1653,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871153.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.81+2125A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541212.1",
"strand": false,
"transcript": "ENST00000871153.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 541,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2121,
"cdna_start": null,
"cds_end": null,
"cds_length": 1626,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871156.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.81+2125A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541215.1",
"strand": false,
"transcript": "ENST00000871156.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 539,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": null,
"cds_end": null,
"cds_length": 1620,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001290007.2",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.3+2616A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276936.1",
"strand": false,
"transcript": "NM_001290007.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 539,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1990,
"cdna_start": null,
"cds_end": null,
"cds_length": 1620,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000544402.5",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.3+2616A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445874.1",
"strand": false,
"transcript": "ENST00000544402.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 538,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": null,
"cds_end": null,
"cds_length": 1617,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001364780.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.81+2125A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351709.1",
"strand": false,
"transcript": "NM_001364780.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_length": 2150,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000871154.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.81+2125A>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000541213.1",
"strand": false,
"transcript": "ENST00000871154.1",
"transcript_support_level": null
},
{
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"cdna_end": null,
"cdna_length": 2077,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000871158.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.81+2125A>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000541217.1",
"strand": false,
"transcript": "ENST00000871158.1",
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},
{
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],
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"feature": "ENST00000871157.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000541216.1",
"strand": false,
"transcript": "ENST00000871157.1",
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},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
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"feature": "NM_001290008.2",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.81+2125A>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001276937.2",
"strand": false,
"transcript": "NM_001290008.2",
"transcript_support_level": null
},
{
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"canonical": false,
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],
"exon_count": 12,
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"feature": "ENST00000452142.7",
"gene_hgnc_id": 1053,
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"hgvs_c": "c.81+2125A>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000410217.3",
"strand": false,
"transcript": "ENST00000452142.7",
"transcript_support_level": 2
},
{
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000604560.6",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.81+2125A>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000474972.3",
"strand": false,
"transcript": "ENST00000604560.6",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871155.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "c.81+2125A>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000541214.1",
"strand": false,
"transcript": "ENST00000871155.1",
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},
{
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],
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"feature": "NM_001364781.1",
"gene_hgnc_id": 1053,
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},
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],
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"feature": "NM_001290009.2",
"gene_hgnc_id": 1053,
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"hgvs_c": "c.-862+2125A>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001276938.1",
"strand": false,
"transcript": "NM_001290009.2",
"transcript_support_level": null
},
{
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"biotype": "nonsense_mediated_decay",
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000605423.1",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "n.120+2125A>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000474425.2",
"strand": false,
"transcript": "ENST00000605423.1",
"transcript_support_level": 3
},
{
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"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2380,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_001748746.2",
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"hgvs_c": "n.153+2125A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001748746.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs4762041",
"effect": "intron_variant",
"frequency_reference_population": 0.32440335,
"gene_hgnc_id": 1053,
"gene_symbol": "BIN2",
"gnomad_exomes_ac": null,
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}
]
}