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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: 5-96883857-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=96883857&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ERAP2",
"hgnc_id": 29499,
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_022350.5",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000247121",
"hgnc_id": null,
"hgvs_c": "n.1689-10479G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000501338.6",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ERAP1",
"hgnc_id": 18173,
"hgvs_c": "c.-701-10185G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "XM_011543484.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.909,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.08,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9761124849319458,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 960,
"aa_ref": "P",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5131,
"cdna_start": 791,
"cds_end": null,
"cds_length": 2883,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_022350.5",
"gene_hgnc_id": 29499,
"gene_symbol": "ERAP2",
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000437043.8",
"protein_coding": true,
"protein_id": "NP_071745.1",
"strand": true,
"transcript": "NM_022350.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 960,
"aa_ref": "P",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5131,
"cdna_start": 791,
"cds_end": null,
"cds_length": 2883,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000437043.8",
"gene_hgnc_id": 29499,
"gene_symbol": "ERAP2",
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022350.5",
"protein_coding": true,
"protein_id": "ENSP00000400376.3",
"strand": true,
"transcript": "ENST00000437043.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 915,
"aa_ref": "P",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": 785,
"cds_end": null,
"cds_length": 2748,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000379904.8",
"gene_hgnc_id": 29499,
"gene_symbol": "ERAP2",
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369235.4",
"strand": true,
"transcript": "ENST00000379904.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 350,
"aa_ref": "P",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1275,
"cdna_start": 763,
"cds_end": null,
"cds_length": 1053,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000510309.1",
"gene_hgnc_id": 29499,
"gene_symbol": "ERAP2",
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425758.1",
"strand": true,
"transcript": "ENST00000510309.1",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 967,
"aa_ref": "P",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5148,
"cdna_start": 787,
"cds_end": null,
"cds_length": 2904,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000851668.1",
"gene_hgnc_id": 29499,
"gene_symbol": "ERAP2",
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521727.1",
"strand": true,
"transcript": "ENST00000851668.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 960,
"aa_ref": "P",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5223,
"cdna_start": 870,
"cds_end": null,
"cds_length": 2883,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001130140.3",
"gene_hgnc_id": 29499,
"gene_symbol": "ERAP2",
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123612.1",
"strand": true,
"transcript": "NM_001130140.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 960,
"aa_ref": "P",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5208,
"cdna_start": 868,
"cds_end": null,
"cds_length": 2883,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000510373.6",
"gene_hgnc_id": 29499,
"gene_symbol": "ERAP2",
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421175.2",
"strand": true,
"transcript": "ENST00000510373.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 937,
"aa_ref": "P",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5591,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 2814,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001437802.1",
"gene_hgnc_id": 29499,
"gene_symbol": "ERAP2",
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424731.1",
"strand": true,
"transcript": "NM_001437802.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 937,
"aa_ref": "P",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5154,
"cdna_start": 870,
"cds_end": null,
"cds_length": 2814,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001438758.1",
"gene_hgnc_id": 29499,
"gene_symbol": "ERAP2",
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425687.1",
"strand": true,
"transcript": "NM_001438758.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 937,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5062,
"cdna_start": 791,
"cds_end": null,
"cds_length": 2814,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000714228.1",
"gene_hgnc_id": 29499,
"gene_symbol": "ERAP2",
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519508.1",
"strand": true,
"transcript": "ENST00000714228.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4999,
"cdna_start": 791,
"cds_end": null,
"cds_length": 2751,
"cds_start": 641,
"consequences": [
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],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000508077.2",
"gene_hgnc_id": 29499,
"gene_symbol": "ERAP2",
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427573.2",
"strand": true,
"transcript": "ENST00000508077.2",
"transcript_support_level": 3
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3109,
"cdna_start": 791,
"cds_end": null,
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"cds_start": 641,
"consequences": [
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],
"exon_count": 18,
"exon_rank": 3,
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"feature": "ENST00000959439.1",
"gene_hgnc_id": 29499,
"gene_symbol": "ERAP2",
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629498.1",
"strand": true,
"transcript": "ENST00000959439.1",
"transcript_support_level": null
},
{
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"aa_length": 915,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5525,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 2748,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001329229.2",
"gene_hgnc_id": 29499,
"gene_symbol": "ERAP2",
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316158.1",
"strand": true,
"transcript": "NM_001329229.2",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 792,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959438.1",
"gene_hgnc_id": 29499,
"gene_symbol": "ERAP2",
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629497.1",
"strand": true,
"transcript": "ENST00000959438.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 791,
"cds_end": null,
"cds_length": 2679,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000851669.1",
"gene_hgnc_id": 29499,
"gene_symbol": "ERAP2",
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521728.1",
"strand": true,
"transcript": "ENST00000851669.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1822,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 1053,
"cds_start": 641,
"consequences": [
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],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001329233.2",
"gene_hgnc_id": 29499,
"gene_symbol": "ERAP2",
"hgvs_c": "c.641C>A",
"hgvs_p": "p.Pro214Gln",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001316162.1",
"strand": true,
"transcript": "NM_001329233.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5886,
"cdna_start": null,
"cds_end": null,
"cds_length": 2856,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543484.3",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.-701-10185G>T",
"hgvs_p": null,
"intron_rank": 1,
"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
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5706,
"cdna_start": null,
"cds_end": null,
"cds_length": 2856,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011543485.3",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.-521-10185G>T",
"hgvs_p": null,
"intron_rank": 1,
"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
},
{
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"aa_length": 951,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5732,
"cdna_start": null,
"cds_end": null,
"cds_length": 2856,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017009581.2",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.-547-10479G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"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": null,
"aa_end": null,
"aa_length": 948,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7672,
"cdna_start": null,
"cds_end": null,
"cds_length": 2847,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047417310.1",
"gene_hgnc_id": 18173,
"gene_symbol": "ERAP1",
"hgvs_c": "c.-705-10185G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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