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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: 12-62484182-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=62484182&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MON2",
"hgnc_id": 29177,
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_015026.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MON2-AS1",
"hgnc_id": 56698,
"hgvs_c": "n.164+587C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000551713.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9986,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.2,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7986477613449097,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1717,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13263,
"cdna_start": 506,
"cds_end": null,
"cds_length": 5154,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_015026.3",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393630.8",
"protein_coding": true,
"protein_id": "NP_055841.2",
"strand": true,
"transcript": "NM_015026.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1717,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13263,
"cdna_start": 506,
"cds_end": null,
"cds_length": 5154,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000393630.8",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015026.3",
"protein_coding": true,
"protein_id": "ENSP00000377250.4",
"strand": true,
"transcript": "ENST00000393630.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1711,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5612,
"cdna_start": 484,
"cds_end": null,
"cds_length": 5136,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000393629.6",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377249.2",
"strand": true,
"transcript": "ENST00000393629.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1688,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5543,
"cdna_start": 484,
"cds_end": null,
"cds_length": 5067,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000552738.5",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449215.1",
"strand": true,
"transcript": "ENST00000552738.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1675,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6130,
"cdna_start": 510,
"cds_end": null,
"cds_length": 5028,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000546600.5",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447407.1",
"strand": true,
"transcript": "ENST00000546600.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5708,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 36,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000547095.5",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "n.*70G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000446626.1",
"strand": true,
"transcript": "ENST00000547095.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5708,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 36,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000547095.5",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "n.*70G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000446626.1",
"strand": true,
"transcript": "ENST00000547095.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000549378.5",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "n.476-14737G>A",
"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": "ENST00000549378.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 848,
"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": "ENST00000551713.1",
"gene_hgnc_id": 56698,
"gene_symbol": "MON2-AS1",
"hgvs_c": "n.164+587C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000551713.1",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1718,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10382,
"cdna_start": 515,
"cds_end": null,
"cds_length": 5157,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000641654.1",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493462.1",
"strand": true,
"transcript": "ENST00000641654.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1711,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13245,
"cdna_start": 506,
"cds_end": null,
"cds_length": 5136,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001278470.2",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265399.1",
"strand": true,
"transcript": "NM_001278470.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1694,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6002,
"cdna_start": 518,
"cds_end": null,
"cds_length": 5085,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000953602.1",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623661.1",
"strand": true,
"transcript": "ENST00000953602.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1688,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13176,
"cdna_start": 506,
"cds_end": null,
"cds_length": 5067,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001278471.2",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265400.1",
"strand": true,
"transcript": "NM_001278471.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1683,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5965,
"cdna_start": 512,
"cds_end": null,
"cds_length": 5052,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000953603.1",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623662.1",
"strand": true,
"transcript": "ENST00000953603.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1677,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5967,
"cdna_start": 533,
"cds_end": null,
"cds_length": 5034,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000854043.1",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524102.1",
"strand": true,
"transcript": "ENST00000854043.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1675,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13324,
"cdna_start": 506,
"cds_end": null,
"cds_length": 5028,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001278469.3",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265398.1",
"strand": true,
"transcript": "NM_001278469.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1668,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5919,
"cdna_start": 507,
"cds_end": null,
"cds_length": 5007,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000914365.1",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584424.1",
"strand": true,
"transcript": "ENST00000914365.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1646,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5891,
"cdna_start": 510,
"cds_end": null,
"cds_length": 4941,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000854042.1",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524101.1",
"strand": true,
"transcript": "ENST00000854042.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1633,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6693,
"cdna_start": 505,
"cds_end": null,
"cds_length": 4902,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000953601.1",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623660.1",
"strand": true,
"transcript": "ENST00000953601.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6681,
"cdna_start": 511,
"cds_end": null,
"cds_length": 4884,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000854041.1",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.124G>A",
"hgvs_p": "p.Gly42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524100.1",
"strand": true,
"transcript": "ENST00000854041.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "G",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3760,
"cdna_start": 483,
"cds_end": null,
"cds_length": 3219,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
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