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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: 2-227524852-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=227524852&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AGFG1",
"hgnc_id": 5175,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001135187.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0674,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.31248950958251953,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 562,
"aa_ref": "P",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8677,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1689,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004504.5",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310078.13",
"protein_coding": true,
"protein_id": "NP_004495.2",
"strand": true,
"transcript": "NM_004504.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 562,
"aa_ref": "P",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8677,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1689,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000310078.13",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004504.5",
"protein_coding": true,
"protein_id": "ENSP00000312059.7",
"strand": true,
"transcript": "ENST00000310078.13",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 560,
"aa_ref": "P",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": 681,
"cds_end": null,
"cds_length": 1683,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000409171.5",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387218.1",
"strand": true,
"transcript": "ENST00000409171.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 522,
"aa_ref": "P",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": 681,
"cds_end": null,
"cds_length": 1569,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000373671.7",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362775.3",
"strand": true,
"transcript": "ENST00000373671.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 600,
"aa_ref": "P",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4259,
"cdna_start": 914,
"cds_end": null,
"cds_length": 1803,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000966411.1",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636470.1",
"strand": true,
"transcript": "ENST00000966411.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 586,
"aa_ref": "P",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3446,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1761,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000928137.1",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598196.1",
"strand": true,
"transcript": "ENST00000928137.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 584,
"aa_ref": "P",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8743,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1755,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001135187.2",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128659.1",
"strand": true,
"transcript": "NM_001135187.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 584,
"aa_ref": "P",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1755,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000409979.6",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387282.2",
"strand": true,
"transcript": "ENST00000409979.6",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 576,
"aa_ref": "P",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4160,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1731,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900794.1",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570853.1",
"strand": true,
"transcript": "ENST00000900794.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 565,
"aa_ref": "P",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2551,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1698,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000966419.1",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636478.1",
"strand": true,
"transcript": "ENST00000966419.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8671,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1683,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001135188.2",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128660.1",
"strand": true,
"transcript": "NM_001135188.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 546,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3322,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1641,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
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"feature": "ENST00000966415.1",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636474.1",
"strand": true,
"transcript": "ENST00000966415.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_start": 886,
"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000966418.1",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636477.1",
"strand": true,
"transcript": "ENST00000966418.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1626,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000409315.5",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387154.1",
"strand": true,
"transcript": "ENST00000409315.5",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
"exon_rank": 5,
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"feature": "ENST00000928136.1",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598195.1",
"strand": true,
"transcript": "ENST00000928136.1",
"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": 4017,
"cdna_start": 919,
"cds_end": null,
"cds_length": 1611,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000966414.1",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636473.1",
"strand": true,
"transcript": "ENST00000966414.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2419,
"cdna_start": 869,
"cds_end": null,
"cds_length": 1578,
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"consequences": [
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],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000966420.1",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000636479.1",
"strand": true,
"transcript": "ENST00000966420.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001135189.2",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128661.1",
"strand": true,
"transcript": "NM_001135189.2",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
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"feature": "ENST00000966412.1",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636471.1",
"strand": true,
"transcript": "ENST00000966412.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 501,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2375,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1506,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000966417.1",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636476.1",
"strand": true,
"transcript": "ENST00000966417.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 492,
"aa_ref": "P",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1479,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000928138.1",
"gene_hgnc_id": 5175,
"gene_symbol": "AGFG1",
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Pro211Ala",
"intron_rank": null,
"intron_rank_end": null,
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