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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: 11-126269229-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126269229&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FOXRED1",
"hgnc_id": 26927,
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001425160.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "SRPRA",
"hgnc_id": 11307,
"hgvs_c": "c.-425T>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000532259.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 2,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0463,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05788901448249817,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 486,
"aa_ref": "H",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1951,
"cdna_start": 76,
"cds_end": null,
"cds_length": 1461,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_017547.4",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263578.10",
"protein_coding": true,
"protein_id": "NP_060017.1",
"strand": true,
"transcript": "NM_017547.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 486,
"aa_ref": "H",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1951,
"cdna_start": 76,
"cds_end": null,
"cds_length": 1461,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000263578.10",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017547.4",
"protein_coding": true,
"protein_id": "ENSP00000263578.5",
"strand": true,
"transcript": "ENST00000263578.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 496,
"aa_ref": "H",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1981,
"cdna_start": 76,
"cds_end": null,
"cds_length": 1491,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001425160.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412089.1",
"strand": true,
"transcript": "NM_001425160.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 496,
"aa_ref": "H",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": 113,
"cds_end": null,
"cds_length": 1491,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000853296.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523355.1",
"strand": true,
"transcript": "ENST00000853296.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 495,
"aa_ref": "H",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1954,
"cdna_start": 47,
"cds_end": null,
"cds_length": 1488,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000853299.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523358.1",
"strand": true,
"transcript": "ENST00000853299.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 494,
"aa_ref": "H",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 201,
"cds_end": null,
"cds_length": 1485,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000692336.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508540.1",
"strand": true,
"transcript": "ENST00000692336.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 492,
"aa_ref": "H",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 165,
"cds_end": null,
"cds_length": 1479,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000853294.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523353.1",
"strand": true,
"transcript": "ENST00000853294.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 491,
"aa_ref": "H",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": 122,
"cds_end": null,
"cds_length": 1476,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000965172.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635231.1",
"strand": true,
"transcript": "ENST00000965172.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 486,
"aa_ref": "H",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1951,
"cdna_start": 76,
"cds_end": null,
"cds_length": 1461,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001425161.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412090.1",
"strand": true,
"transcript": "NM_001425161.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 486,
"aa_ref": "H",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2038,
"cdna_start": 157,
"cds_end": null,
"cds_length": 1461,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000914550.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584609.1",
"strand": true,
"transcript": "ENST00000914550.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 485,
"aa_ref": "H",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 76,
"cds_end": null,
"cds_length": 1458,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001425163.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412092.1",
"strand": true,
"transcript": "NM_001425163.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 485,
"aa_ref": "H",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 76,
"cds_end": null,
"cds_length": 1458,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001425164.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412093.1",
"strand": true,
"transcript": "NM_001425164.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 485,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 201,
"cds_end": null,
"cds_length": 1458,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000532125.2",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434178.2",
"strand": true,
"transcript": "ENST00000532125.2",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 485,
"aa_ref": "H",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2067,
"cdna_start": 189,
"cds_end": null,
"cds_length": 1458,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000853292.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523351.1",
"strand": true,
"transcript": "ENST00000853292.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 485,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1901,
"cdna_start": 29,
"cds_end": null,
"cds_length": 1458,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000914554.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584613.1",
"strand": true,
"transcript": "ENST00000914554.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "H",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1945,
"cdna_start": 76,
"cds_end": null,
"cds_length": 1455,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001425165.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412094.1",
"strand": true,
"transcript": "NM_001425165.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 484,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2007,
"cdna_start": 139,
"cds_end": null,
"cds_length": 1455,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000965171.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000635230.1",
"strand": true,
"transcript": "ENST00000965171.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1917,
"cdna_start": 47,
"cds_end": null,
"cds_length": 1455,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000965178.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635237.1",
"strand": true,
"transcript": "ENST00000965178.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1941,
"cdna_start": 103,
"cds_end": null,
"cds_length": 1425,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000965173.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635232.1",
"strand": true,
"transcript": "ENST00000965173.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 470,
"aa_ref": "H",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 76,
"cds_end": null,
"cds_length": 1413,
"cds_start": 23,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001425166.1",
"gene_hgnc_id": 26927,
"gene_symbol": "FOXRED1",
"hgvs_c": "c.23A>C",
"hgvs_p": "p.His8Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412095.1",
"strand": true,
"transcript": "NM_001425166.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 470,
"aa_ref": "H",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 201,
"cds_end": null,
"cds_length": 1413,
"cds_start": 23,
"consequences": [
"missense_variant"
],
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