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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: 1-230693393-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=230693393&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM4"
],
"effects": [
"stop_lost"
],
"gene_symbol": "COG2",
"hgnc_id": 6546,
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Ter739Tyrext*?",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_007357.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "AGT",
"hgnc_id": 333,
"hgvs_c": "c.*1018T>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000680783.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7599999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 738,
"aa_ref": "*",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": 2343,
"cds_end": null,
"cds_length": 2217,
"cds_start": 2217,
"consequences": [
"stop_lost"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_007357.3",
"gene_hgnc_id": 6546,
"gene_symbol": "COG2",
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Ter739Tyrext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366669.9",
"protein_coding": true,
"protein_id": "NP_031383.1",
"strand": true,
"transcript": "NM_007357.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 738,
"aa_ref": "*",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": 2343,
"cds_end": null,
"cds_length": 2217,
"cds_start": 2217,
"consequences": [
"stop_lost"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000366669.9",
"gene_hgnc_id": 6546,
"gene_symbol": "COG2",
"hgvs_c": "c.2217A>C",
"hgvs_p": "p.Ter739Tyrext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007357.3",
"protein_coding": true,
"protein_id": "ENSP00000355629.4",
"strand": true,
"transcript": "ENST00000366669.9",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 737,
"aa_ref": "*",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 2254,
"cds_end": null,
"cds_length": 2214,
"cds_start": 2214,
"consequences": [
"stop_lost"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000366668.7",
"gene_hgnc_id": 6546,
"gene_symbol": "COG2",
"hgvs_c": "c.2214A>C",
"hgvs_p": "p.Ter738Tyrext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355628.3",
"strand": true,
"transcript": "ENST00000366668.7",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 737,
"aa_ref": "*",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 2340,
"cds_end": null,
"cds_length": 2214,
"cds_start": 2214,
"consequences": [
"stop_lost"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001145036.2",
"gene_hgnc_id": 6546,
"gene_symbol": "COG2",
"hgvs_c": "c.2214A>C",
"hgvs_p": "p.Ter738Tyrext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138508.1",
"strand": true,
"transcript": "NM_001145036.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 737,
"aa_ref": "*",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 2340,
"cds_end": null,
"cds_length": 2214,
"cds_start": 2214,
"consequences": [
"stop_lost"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000921491.1",
"gene_hgnc_id": 6546,
"gene_symbol": "COG2",
"hgvs_c": "c.2214A>C",
"hgvs_p": "p.Ter738Tyrext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591550.1",
"strand": true,
"transcript": "ENST00000921491.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 731,
"aa_ref": "*",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2928,
"cdna_start": 2339,
"cds_end": null,
"cds_length": 2196,
"cds_start": 2196,
"consequences": [
"stop_lost"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000964684.1",
"gene_hgnc_id": 6546,
"gene_symbol": "COG2",
"hgvs_c": "c.2196A>C",
"hgvs_p": "p.Ter732Tyrext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634743.1",
"strand": true,
"transcript": "ENST00000964684.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 716,
"aa_ref": "*",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2865,
"cdna_start": 2277,
"cds_end": null,
"cds_length": 2151,
"cds_start": 2151,
"consequences": [
"stop_lost"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000964685.1",
"gene_hgnc_id": 6546,
"gene_symbol": "COG2",
"hgvs_c": "c.2151A>C",
"hgvs_p": "p.Ter717Tyrext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634744.1",
"strand": true,
"transcript": "ENST00000964685.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 679,
"aa_ref": "*",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2963,
"cdna_start": 2375,
"cds_end": null,
"cds_length": 2040,
"cds_start": 2040,
"consequences": [
"stop_lost"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000534989.1",
"gene_hgnc_id": 6546,
"gene_symbol": "COG2",
"hgvs_c": "c.2040A>C",
"hgvs_p": "p.Ter680Tyrext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440349.1",
"strand": true,
"transcript": "ENST00000534989.1",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 678,
"aa_ref": "*",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2750,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 2037,
"cds_start": 2037,
"consequences": [
"stop_lost"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000865123.1",
"gene_hgnc_id": 6546,
"gene_symbol": "COG2",
"hgvs_c": "c.2037A>C",
"hgvs_p": "p.Ter679Tyrext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535182.1",
"strand": true,
"transcript": "ENST00000865123.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 677,
"aa_ref": "*",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2724,
"cdna_start": 2136,
"cds_end": null,
"cds_length": 2034,
"cds_start": 2034,
"consequences": [
"stop_lost"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000865124.1",
"gene_hgnc_id": 6546,
"gene_symbol": "COG2",
"hgvs_c": "c.2034A>C",
"hgvs_p": "p.Ter678Tyrext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535183.1",
"strand": true,
"transcript": "ENST00000865124.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 675,
"aa_ref": "*",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2736,
"cdna_start": 2148,
"cds_end": null,
"cds_length": 2028,
"cds_start": 2028,
"consequences": [
"stop_lost"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000964686.1",
"gene_hgnc_id": 6546,
"gene_symbol": "COG2",
"hgvs_c": "c.2028A>C",
"hgvs_p": "p.Ter676Tyrext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634745.1",
"strand": true,
"transcript": "ENST00000964686.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 662,
"aa_ref": "*",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 2110,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1989,
"consequences": [
"stop_lost"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000964687.1",
"gene_hgnc_id": 6546,
"gene_symbol": "COG2",
"hgvs_c": "c.1989A>C",
"hgvs_p": "p.Ter663Tyrext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634746.1",
"strand": true,
"transcript": "ENST00000964687.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 600,
"aa_ref": "*",
"aa_start": 601,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2486,
"cdna_start": 1899,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1803,
"consequences": [
"stop_lost"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000964688.1",
"gene_hgnc_id": 6546,
"gene_symbol": "COG2",
"hgvs_c": "c.1803A>C",
"hgvs_p": "p.Ter601Tyrext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634747.1",
"strand": true,
"transcript": "ENST00000964688.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 420,
"aa_ref": "*",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1263,
"consequences": [
"stop_lost"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000964689.1",
"gene_hgnc_id": 6546,
"gene_symbol": "COG2",
"hgvs_c": "c.1263A>C",
"hgvs_p": "p.Ter421Tyrext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634748.1",
"strand": true,
"transcript": "ENST00000964689.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 625,
"aa_ref": "*",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": 1984,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1878,
"consequences": [
"stop_lost"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047449445.1",
"gene_hgnc_id": 6546,
"gene_symbol": "COG2",
"hgvs_c": "c.1878A>C",
"hgvs_p": "p.Ter626Tyrext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305401.1",
"strand": true,
"transcript": "XM_047449445.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 285,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5004,
"cdna_start": null,
"cds_end": null,
"cds_length": 858,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000680783.1",
"gene_hgnc_id": 333,
"gene_symbol": "AGT",
"hgvs_c": "c.*1018T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506329.1",
"strand": false,
"transcript": "ENST00000680783.1",
"transcript_support_level": null
},
{
"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": 2784,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000468893.6",
"gene_hgnc_id": 6546,
"gene_symbol": "COG2",
"hgvs_c": "n.*2075A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476305.1",
"strand": true,
"transcript": "ENST00000468893.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2114,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000657140.1",
"gene_hgnc_id": 333,
"gene_symbol": "AGT",
"hgvs_c": "n.1254T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000657140.1",
"transcript_support_level": null
},
{
"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": 4894,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679738.1",
"gene_hgnc_id": 333,
"gene_symbol": "AGT",
"hgvs_c": "n.*1991T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505063.1",
"strand": false,
"transcript": "ENST00000679738.1",
"transcript_support_level": null
},
{
"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": 5135,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000679802.1",
"gene_hgnc_id": 333,
"gene_symbol": "AGT",
"hgvs_c": "n.*2881T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505184.1",
"strand": false,
"transcript": "ENST00000679802.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 8609,
"cdna_start": null,
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