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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: 12-62493980-AA-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=62493980&ref=AA&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MON2",
"hgnc_id": 29177,
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_015026.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1717,
"aa_ref": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13263,
"cdna_start": 623,
"cds_end": null,
"cds_length": 5154,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015026.3",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"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": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13263,
"cdna_start": 623,
"cds_end": null,
"cds_length": 5154,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393630.8",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"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": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5612,
"cdna_start": 601,
"cds_end": null,
"cds_length": 5136,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393629.6",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"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": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5543,
"cdna_start": 601,
"cds_end": null,
"cds_length": 5067,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000552738.5",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"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": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6130,
"cdna_start": 627,
"cds_end": null,
"cds_length": 5028,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000546600.5",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"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": 4,
"exon_rank_end": null,
"feature": "ENST00000547095.5",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "n.*187_*188delAAinsCG",
"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": 4,
"exon_rank_end": null,
"feature": "ENST00000547095.5",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "n.*187_*188delAAinsCG",
"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.476-4939_476-4938delAAinsCG",
"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": "R",
"aa_end": null,
"aa_length": 1718,
"aa_ref": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10382,
"cdna_start": 632,
"cds_end": null,
"cds_length": 5157,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000641654.1",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"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": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13245,
"cdna_start": 623,
"cds_end": null,
"cds_length": 5136,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278470.2",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"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": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6002,
"cdna_start": 635,
"cds_end": null,
"cds_length": 5085,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953602.1",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"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": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13176,
"cdna_start": 623,
"cds_end": null,
"cds_length": 5067,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278471.2",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"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": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5965,
"cdna_start": 629,
"cds_end": null,
"cds_length": 5052,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953603.1",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"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": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5967,
"cdna_start": 650,
"cds_end": null,
"cds_length": 5034,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854043.1",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"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": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13324,
"cdna_start": 623,
"cds_end": null,
"cds_length": 5028,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278469.3",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"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": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5919,
"cdna_start": 624,
"cds_end": null,
"cds_length": 5007,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000914365.1",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"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": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5891,
"cdna_start": 627,
"cds_end": null,
"cds_length": 4941,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854042.1",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"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": 1645,
"aa_ref": "K",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13341,
"cdna_start": 701,
"cds_end": null,
"cds_length": 4938,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278472.2",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.25_26delAAinsCG",
"hgvs_p": "p.Lys9Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265401.1",
"strand": true,
"transcript": "NM_001278472.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1633,
"aa_ref": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6693,
"cdna_start": 622,
"cds_end": null,
"cds_length": 4902,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000953601.1",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"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": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6681,
"cdna_start": 628,
"cds_end": null,
"cds_length": 4884,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000854041.1",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"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": "K",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3760,
"cdna_start": 600,
"cds_end": null,
"cds_length": 3219,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000552115.5",
"gene_hgnc_id": 29177,
"gene_symbol": "MON2",
"hgvs_c": "c.241_242delAAinsCG",
"hgvs_p": "p.Lys81Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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