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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: 6-12121941-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=12121941&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HIVEP1",
"hgnc_id": 4920,
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Thr716Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_002114.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 527188,
"alphamissense_prediction": null,
"alphamissense_score": 0.0637,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.003978461027145386,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2718,
"aa_ref": "T",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9053,
"cdna_start": 2504,
"cds_end": null,
"cds_length": 8157,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_002114.4",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Thr716Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000379388.7",
"protein_coding": true,
"protein_id": "NP_002105.3",
"strand": true,
"transcript": "NM_002114.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2718,
"aa_ref": "T",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9053,
"cdna_start": 2504,
"cds_end": null,
"cds_length": 8157,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000379388.7",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Thr716Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002114.4",
"protein_coding": true,
"protein_id": "ENSP00000368698.2",
"strand": true,
"transcript": "ENST00000379388.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2718,
"aa_ref": "T",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8886,
"cdna_start": 2337,
"cds_end": null,
"cds_length": 8157,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000478545.2",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Thr716Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418021.2",
"strand": true,
"transcript": "ENST00000478545.2",
"transcript_support_level": 4
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2718,
"aa_ref": "T",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8853,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 8157,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000487103.6",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Thr716Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417348.2",
"strand": true,
"transcript": "ENST00000487103.6",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2718,
"aa_ref": "T",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8912,
"cdna_start": 2363,
"cds_end": null,
"cds_length": 8157,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000491710.6",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Thr716Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419762.2",
"strand": true,
"transcript": "ENST00000491710.6",
"transcript_support_level": 3
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2718,
"aa_ref": "T",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8902,
"cdna_start": 2353,
"cds_end": null,
"cds_length": 8157,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925922.1",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Thr716Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595981.1",
"strand": true,
"transcript": "ENST00000925922.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2684,
"aa_ref": "T",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8924,
"cdna_start": 2478,
"cds_end": null,
"cds_length": 8055,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000627968.3",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Thr716Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486543.2",
"strand": true,
"transcript": "ENST00000627968.3",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2516,
"aa_ref": "T",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8843,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 7551,
"cds_start": 1540,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000714231.1",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.1540A>G",
"hgvs_p": "p.Thr514Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519512.1",
"strand": true,
"transcript": "ENST00000714231.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2516,
"aa_ref": "T",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8942,
"cdna_start": 2393,
"cds_end": null,
"cds_length": 7551,
"cds_start": 1540,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000714232.1",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.1540A>G",
"hgvs_p": "p.Thr514Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519513.1",
"strand": true,
"transcript": "ENST00000714232.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2727,
"aa_ref": "T",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9266,
"cdna_start": 2717,
"cds_end": null,
"cds_length": 8184,
"cds_start": 2173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011514548.3",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2173A>G",
"hgvs_p": "p.Thr725Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512850.1",
"strand": true,
"transcript": "XM_011514548.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2718,
"aa_ref": "T",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8855,
"cdna_start": 2306,
"cds_end": null,
"cds_length": 8157,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011514552.3",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Thr716Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512854.1",
"strand": true,
"transcript": "XM_011514552.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2718,
"aa_ref": "T",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8933,
"cdna_start": 2384,
"cds_end": null,
"cds_length": 8157,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011514553.2",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Thr716Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512855.1",
"strand": true,
"transcript": "XM_011514553.2",
"transcript_support_level": null
},
{
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"aa_length": 2718,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8913,
"cdna_start": 2364,
"cds_end": null,
"cds_length": 8157,
"cds_start": 2146,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047418697.1",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Thr716Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274653.1",
"strand": true,
"transcript": "XM_047418697.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2718,
"aa_ref": "T",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8852,
"cdna_start": 2303,
"cds_end": null,
"cds_length": 8157,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047418698.1",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Thr716Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274654.1",
"strand": true,
"transcript": "XM_047418698.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9474,
"cdna_start": 2925,
"cds_end": null,
"cds_length": 8157,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047418699.1",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Thr716Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274655.1",
"strand": true,
"transcript": "XM_047418699.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2718,
"aa_ref": "T",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9095,
"cdna_start": 2546,
"cds_end": null,
"cds_length": 8157,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047418700.1",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Thr716Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274656.1",
"strand": true,
"transcript": "XM_047418700.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2707,
"aa_ref": "T",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8757,
"cdna_start": 2208,
"cds_end": null,
"cds_length": 8124,
"cds_start": 2113,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011514555.4",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2113A>G",
"hgvs_p": "p.Thr705Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512857.1",
"strand": true,
"transcript": "XM_011514555.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9543,
"cdna_start": 3096,
"cds_end": null,
"cds_length": 8082,
"cds_start": 2173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047418701.1",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2173A>G",
"hgvs_p": "p.Thr725Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274657.1",
"strand": true,
"transcript": "XM_047418701.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 2684,
"aa_ref": "T",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8753,
"cdna_start": 2306,
"cds_end": null,
"cds_length": 8055,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047418702.1",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Thr716Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274658.1",
"strand": true,
"transcript": "XM_047418702.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2684,
"aa_ref": "T",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8951,
"cdna_start": 2504,
"cds_end": null,
"cds_length": 8055,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047418703.1",
"gene_hgnc_id": 4920,
"gene_symbol": "HIVEP1",
"hgvs_c": "c.2146A>G",
"hgvs_p": "p.Thr716Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274659.1",
"strand": true,
"transcript": "XM_047418703.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2516,
"aa_ref": "T",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10174,
"cdna_start": 3625,
"cds_end": null,
"cds_length": 7551,
"cds_start": 1540,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047418704.1",
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