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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: 3-47914934-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47914934&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47914934,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000683076.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Val628Ile",
"transcript": "NM_001385682.1",
"protein_id": "NP_001372611.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 2296,
"cds_start": 1882,
"cds_end": null,
"cds_length": 6891,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 9232,
"mane_select": "ENST00000683076.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Val628Ile",
"transcript": "ENST00000683076.1",
"protein_id": "ENSP00000507895.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 2296,
"cds_start": 1882,
"cds_end": null,
"cds_length": 6891,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 9232,
"mane_select": "NM_001385682.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Val628Ile",
"transcript": "ENST00000360240.10",
"protein_id": "ENSP00000353375.6",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 1152,
"cds_start": 1882,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 5142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Val645Ile",
"transcript": "ENST00000426837.6",
"protein_id": "ENSP00000407602.2",
"transcript_support_level": 5,
"aa_start": 645,
"aa_end": null,
"aa_length": 2297,
"cds_start": 1933,
"cds_end": null,
"cds_length": 6894,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 8920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Val645Ile",
"transcript": "NM_001385687.1",
"protein_id": "NP_001372616.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 2296,
"cds_start": 1933,
"cds_end": null,
"cds_length": 6891,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 9232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Val645Ile",
"transcript": "NM_001385689.1",
"protein_id": "NP_001372618.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 2258,
"cds_start": 1933,
"cds_end": null,
"cds_length": 6777,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 9118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1813G>A",
"hgvs_p": "p.Val605Ile",
"transcript": "NM_001385664.1",
"protein_id": "NP_001372593.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 2219,
"cds_start": 1813,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 9099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Val645Ile",
"transcript": "NM_001385688.1",
"protein_id": "NP_001372617.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 2219,
"cds_start": 1933,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 9001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1918G>A",
"hgvs_p": "p.Val640Ile",
"transcript": "NM_001384745.1",
"protein_id": "NP_001371674.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 1180,
"cds_start": 1918,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 2013,
"cdna_end": null,
"cdna_length": 5877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1969G>A",
"hgvs_p": "p.Val657Ile",
"transcript": "NM_001384795.1",
"protein_id": "NP_001371724.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 1180,
"cds_start": 1969,
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"cds_length": 3543,
"cdna_start": 2064,
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"cdna_length": 5877,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Val645Ile",
"transcript": "NM_001384736.1",
"protein_id": "NP_001371665.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1169,
"cds_start": 1933,
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"cds_length": 3510,
"cdna_start": 2028,
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"mane_select": null,
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},
{
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"strand": false,
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],
"exon_rank": 9,
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "MAP4",
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"hgvs_p": "p.Val645Ile",
"transcript": "NM_001384788.1",
"protein_id": "NP_001371717.1",
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"aa_start": 645,
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"cdna_start": 2028,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "MAP4",
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"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Val645Ile",
"transcript": "NM_001385686.1",
"protein_id": "NP_001372615.1",
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"cdna_start": 2035,
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "MAP4",
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"hgvs_c": "c.1918G>A",
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"transcript": "NM_001384738.1",
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},
{
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],
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"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1918G>A",
"hgvs_p": "p.Val640Ile",
"transcript": "NM_001384748.1",
"protein_id": "NP_001371677.1",
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"aa_start": 640,
"aa_end": null,
"aa_length": 1163,
"cds_start": 1918,
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"cdna_start": 2013,
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"mane_select": null,
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"feature": null
},
{
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],
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"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Val628Ile",
"transcript": "NM_001384679.1",
"protein_id": "NP_001371608.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1933G>A",
"hgvs_p": "p.Val645Ile",
"transcript": "NM_001384731.1",
"protein_id": "NP_001371660.1",
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},
{
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"strand": false,
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Val628Ile",
"transcript": "NM_001384729.1",
"protein_id": "NP_001371658.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
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"cds_start": 1882,
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"cdna_start": 2182,
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},
{
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"intron_rank": null,
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"gene_symbol": "MAP4",
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"transcript": "NM_002375.5",
"protein_id": "NP_002366.2",
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},
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"intron_rank": null,
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"gene_symbol": "MAP4",
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"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Val628Ile",
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},
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],
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"aa_end": null,
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"cds_start": 1882,
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"cdna_start": 1984,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1918G>A",
"hgvs_p": "p.Val640Ile",
"transcript": "NM_001384875.1",
"protein_id": "NP_001371804.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 1149,
"cds_start": 1918,
"cds_end": null,
"cds_length": 3450,
"cdna_start": 2013,
"cdna_end": null,
"cdna_length": 5882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP4",
"gene_hgnc_id": 6862,
"hgvs_c": "c.1882G>A",
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],
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"computational_score_selected": 0.00011159465066157281,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.077,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"acmg_score": -13,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP6",
"BA1"
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"verdict": "Benign",
"transcript": "ENST00000683076.1",
"gene_symbol": "MAP4",
"hgnc_id": 6862,
"effects": [
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"inheritance_mode": "",
"hgvs_c": "c.1882G>A",
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],
"clinvar_disease": "MAP4-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "MAP4-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}