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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: 6-32040421-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32040421&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP21A2",
"hgnc_id": 2600,
"hgvs_c": "c.955C>G",
"hgvs_p": "p.Gln319Glu",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_000500.9",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP5_Moderate",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2158,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "6",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6800687313079834,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2006,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1488,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000500.9",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.955C>G",
"hgvs_p": "p.Gln319Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644719.2",
"protein_coding": true,
"protein_id": "NP_000491.4",
"strand": true,
"transcript": "NM_000500.9",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2006,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1488,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000644719.2",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.955C>G",
"hgvs_p": "p.Gln319Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000500.9",
"protein_coding": true,
"protein_id": "ENSP00000496625.1",
"strand": true,
"transcript": "ENST00000644719.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 507,
"aa_ref": "Q",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2103,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1524,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000960600.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.991C>G",
"hgvs_p": "p.Gln331Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630659.1",
"strand": true,
"transcript": "ENST00000960600.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 498,
"aa_ref": "Q",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2162,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1497,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000960597.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.964C>G",
"hgvs_p": "p.Gln322Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630656.1",
"strand": true,
"transcript": "ENST00000960597.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 496,
"aa_ref": "Q",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2055,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1491,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000960601.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.958C>G",
"hgvs_p": "p.Gln320Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630660.1",
"strand": true,
"transcript": "ENST00000960601.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1488,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000960596.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.955C>G",
"hgvs_p": "p.Gln319Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630655.1",
"strand": true,
"transcript": "ENST00000960596.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 494,
"aa_ref": "Q",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2076,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 1485,
"cds_start": 952,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000960599.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.952C>G",
"hgvs_p": "p.Gln318Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630658.1",
"strand": true,
"transcript": "ENST00000960599.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Q",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1482,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000960595.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.949C>G",
"hgvs_p": "p.Gln317Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630654.1",
"strand": true,
"transcript": "ENST00000960595.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 492,
"aa_ref": "Q",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1479,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000960605.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.946C>G",
"hgvs_p": "p.Gln316Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630664.1",
"strand": true,
"transcript": "ENST00000960605.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 476,
"aa_ref": "Q",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2056,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1431,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960598.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.898C>G",
"hgvs_p": "p.Gln300Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630657.1",
"strand": true,
"transcript": "ENST00000960598.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 468,
"aa_ref": "Q",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": 882,
"cds_end": null,
"cds_length": 1407,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960604.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Gln292Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630663.1",
"strand": true,
"transcript": "ENST00000960604.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 466,
"aa_ref": "Q",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 876,
"cds_end": null,
"cds_length": 1401,
"cds_start": 868,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960603.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.868C>G",
"hgvs_p": "p.Gln290Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630662.1",
"strand": true,
"transcript": "ENST00000960603.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 465,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1398,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001128590.4",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.865C>G",
"hgvs_p": "p.Gln289Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001122062.3",
"strand": true,
"transcript": "NM_001128590.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 465,
"aa_ref": "Q",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1398,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000435122.3",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.865C>G",
"hgvs_p": "p.Gln289Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415043.2",
"strand": true,
"transcript": "ENST00000435122.3",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 461,
"aa_ref": "Q",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": 860,
"cds_end": null,
"cds_length": 1386,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960607.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.853C>G",
"hgvs_p": "p.Gln285Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630666.1",
"strand": true,
"transcript": "ENST00000960607.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 452,
"aa_ref": "Q",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 878,
"cds_end": null,
"cds_length": 1359,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960602.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.826C>G",
"hgvs_p": "p.Gln276Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630661.1",
"strand": true,
"transcript": "ENST00000960602.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 436,
"aa_ref": "Q",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1825,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1311,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960606.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.778C>G",
"hgvs_p": "p.Gln260Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630665.1",
"strand": true,
"transcript": "ENST00000960606.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 360,
"aa_ref": "Q",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": 982,
"cds_end": null,
"cds_length": 1083,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001368143.2",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.550C>G",
"hgvs_p": "p.Gln184Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355072.1",
"strand": true,
"transcript": "NM_001368143.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 360,
"aa_ref": "Q",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1933,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1083,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001368144.2",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.550C>G",
"hgvs_p": "p.Gln184Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355073.1",
"strand": true,
"transcript": "NM_001368144.2",
"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": 2137,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000479074.5",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "n.1013C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000479074.5",
"transcript_support_level": 3
},
{
"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": 2112,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000479730.5",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "n.1071C>G",
"hgvs_p": null,
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{
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]
}