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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: 5-96785820-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=96785820&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ERAP1",
"hgnc_id": 18173,
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_016442.5",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000248734",
"hgnc_id": null,
"hgvs_c": "n.632C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000602972.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LOC124901031",
"hgnc_id": null,
"hgvs_c": "n.1425C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "XR_007058877.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 913251,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "5",
"clinvar_classification": "Benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4099999964237213,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 941,
"aa_ref": "A",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4841,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 2826,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001040458.3",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000443439.7",
"protein_coding": true,
"protein_id": "NP_001035548.1",
"strand": false,
"transcript": "NM_001040458.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 941,
"aa_ref": "A",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4841,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 2826,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000443439.7",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001040458.3",
"protein_coding": true,
"protein_id": "ENSP00000406304.2",
"strand": false,
"transcript": "ENST00000443439.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 948,
"aa_ref": "A",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5495,
"cdna_start": 2169,
"cds_end": null,
"cds_length": 2847,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000296754.7",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000296754.3",
"strand": false,
"transcript": "ENST00000296754.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 948,
"aa_ref": "A",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5333,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 2847,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001349244.2",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336173.1",
"strand": false,
"transcript": "NM_001349244.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 948,
"aa_ref": "A",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5337,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 2847,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_016442.5",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057526.3",
"strand": false,
"transcript": "NM_016442.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 941,
"aa_ref": "A",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4843,
"cdna_start": 2016,
"cds_end": null,
"cds_length": 2826,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001198541.3",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185470.1",
"strand": false,
"transcript": "NM_001198541.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 941,
"aa_ref": "A",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4838,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 2826,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000853356.1",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523415.1",
"strand": false,
"transcript": "ENST00000853356.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 941,
"aa_ref": "A",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4861,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 2826,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000853357.1",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523416.1",
"strand": false,
"transcript": "ENST00000853357.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 941,
"aa_ref": "A",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4813,
"cdna_start": 1988,
"cds_end": null,
"cds_length": 2826,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000853358.1",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523417.1",
"strand": false,
"transcript": "ENST00000853358.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 941,
"aa_ref": "A",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4848,
"cdna_start": 2021,
"cds_end": null,
"cds_length": 2826,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000853359.1",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523418.1",
"strand": false,
"transcript": "ENST00000853359.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 941,
"aa_ref": "A",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5212,
"cdna_start": 2388,
"cds_end": null,
"cds_length": 2826,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000853360.1",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523419.1",
"strand": false,
"transcript": "ENST00000853360.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 951,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8210,
"cdna_start": 6669,
"cds_end": null,
"cds_length": 2856,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_005272015.6",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005272072.1",
"strand": false,
"transcript": "XM_005272015.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 951,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3551,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 2856,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_005272016.5",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005272073.1",
"strand": false,
"transcript": "XM_005272016.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5886,
"cdna_start": 4345,
"cds_end": null,
"cds_length": 2856,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011543484.3",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541786.1",
"strand": false,
"transcript": "XM_011543484.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 951,
"aa_ref": "A",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5706,
"cdna_start": 4165,
"cds_end": null,
"cds_length": 2856,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011543485.3",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541787.1",
"strand": false,
"transcript": "XM_011543485.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 951,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5732,
"cdna_start": 4191,
"cds_end": null,
"cds_length": 2856,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017009581.2",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865070.1",
"strand": false,
"transcript": "XM_017009581.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"biotype": "protein_coding",
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"cdna_length": 3527,
"cdna_start": 1986,
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"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047417305.1",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273261.1",
"strand": false,
"transcript": "XM_047417305.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3531,
"cdna_start": 1990,
"cds_end": null,
"cds_length": 2856,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047417306.1",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273262.1",
"strand": false,
"transcript": "XM_047417306.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 951,
"aa_ref": "A",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3573,
"cdna_start": 2032,
"cds_end": null,
"cds_length": 2856,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047417307.1",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
"hgvs_p": "p.Ala637Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273263.1",
"strand": false,
"transcript": "XM_047417307.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 948,
"aa_ref": "A",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5313,
"cdna_start": 1990,
"cds_end": null,
"cds_length": 2847,
"cds_start": 1911,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047417308.1",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.1911G>A",
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