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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: 3-128884004-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128884004&ref=A&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": "ACAD9",
"hgnc_id": 21497,
"hgvs_c": "c.151-649A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_014049.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 59792,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.97,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9700000286102295,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 621,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": null,
"cds_end": null,
"cds_length": 1866,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014049.5",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.151-649A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308982.12",
"protein_coding": true,
"protein_id": "NP_054768.2",
"strand": true,
"transcript": "NM_014049.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 621,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2445,
"cdna_start": null,
"cds_end": null,
"cds_length": 1866,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000308982.12",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.151-649A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014049.5",
"protein_coding": true,
"protein_id": "ENSP00000312618.7",
"strand": true,
"transcript": "ENST00000308982.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3748,
"cdna_start": null,
"cds_end": null,
"cds_length": 1497,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000679715.1",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.-868A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506228.1",
"strand": true,
"transcript": "ENST00000679715.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 643,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": null,
"cds_end": null,
"cds_length": 1932,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681367.1",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.151-649A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505309.1",
"strand": true,
"transcript": "ENST00000681367.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 626,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": null,
"cds_end": null,
"cds_length": 1881,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680636.1",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.151-649A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504886.1",
"strand": true,
"transcript": "ENST00000680636.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 626,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2440,
"cdna_start": null,
"cds_end": null,
"cds_length": 1881,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897730.1",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.151-649A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567789.1",
"strand": true,
"transcript": "ENST00000897730.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 620,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2464,
"cdna_start": null,
"cds_end": null,
"cds_length": 1863,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897729.1",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.151-649A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567788.1",
"strand": true,
"transcript": "ENST00000897729.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 619,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2430,
"cdna_start": null,
"cds_end": null,
"cds_length": 1860,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959715.1",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.151-649A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629774.1",
"strand": true,
"transcript": "ENST00000959715.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 615,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": null,
"cds_end": null,
"cds_length": 1848,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897731.1",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.151-649A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567790.1",
"strand": true,
"transcript": "ENST00000897731.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 615,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": null,
"cds_end": null,
"cds_length": 1848,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897732.1",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.151-649A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567791.1",
"strand": true,
"transcript": "ENST00000897732.1",
"transcript_support_level": null
},
{
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"aa_length": 595,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897734.1",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.151-649A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567793.1",
"strand": true,
"transcript": "ENST00000897734.1",
"transcript_support_level": null
},
{
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"aa_length": 589,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": null,
"cds_end": null,
"cds_length": 1770,
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"consequences": [
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],
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"exon_rank": null,
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"feature": "ENST00000926997.1",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.151-649A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000597056.1",
"strand": true,
"transcript": "ENST00000926997.1",
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},
{
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"canonical": false,
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"consequences": [
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],
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"feature": "ENST00000926996.1",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000597055.1",
"strand": true,
"transcript": "ENST00000926996.1",
"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": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959716.1",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.151-649A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000629775.1",
"strand": true,
"transcript": "ENST00000959716.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000897733.1",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.151-649A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000567792.1",
"strand": true,
"transcript": "ENST00000897733.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410805.1",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.-126+4163A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397734.1",
"strand": true,
"transcript": "NM_001410805.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1703,
"cdna_start": null,
"cds_end": null,
"cds_length": 1167,
"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681552.1",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.151-649A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000505699.1",
"strand": true,
"transcript": "ENST00000681552.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000514336.1",
"gene_hgnc_id": 21497,
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"protein_coding": true,
"protein_id": "ENSP00000423758.1",
"strand": true,
"transcript": "ENST00000514336.1",
"transcript_support_level": 3
},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
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"feature": "XM_024453484.2",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "c.-219-649A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_024309252.1",
"strand": true,
"transcript": "XM_024453484.2",
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},
{
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000505192.5",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "n.150+4163A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000426277.1",
"strand": true,
"transcript": "ENST00000505192.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 553,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000505602.1",
"gene_hgnc_id": 21497,
"gene_symbol": "ACAD9",
"hgvs_c": "n.517-649A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000505602.1",
"transcript_support_level": 4
},
{
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2401,
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