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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: 6-32038471-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32038471&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "CYP21A2",
"hgnc_id": 2600,
"hgvs_c": "c.-376C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001368143.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 31,
"alphamissense_prediction": null,
"alphamissense_score": 0.1133,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.34996211528778076,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 495,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2006,
"cdna_start": 57,
"cds_end": null,
"cds_length": 1488,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_000500.9",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"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": "C",
"aa_end": null,
"aa_length": 495,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2006,
"cdna_start": 57,
"cds_end": null,
"cds_length": 1488,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000644719.2",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"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": null,
"aa_end": null,
"aa_length": 360,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": null,
"cds_end": null,
"cds_length": 1083,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001368143.2",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.-376C>T",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 360,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1933,
"cdna_start": null,
"cds_end": null,
"cds_length": 1083,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001368144.2",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.-286C>T",
"hgvs_p": null,
"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": "C",
"aa_end": null,
"aa_length": 507,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2103,
"cdna_start": 117,
"cds_end": null,
"cds_length": 1524,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000960600.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"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": "C",
"aa_end": null,
"aa_length": 498,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2162,
"cdna_start": 174,
"cds_end": null,
"cds_length": 1497,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000960597.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"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": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2055,
"cdna_start": 103,
"cds_end": null,
"cds_length": 1491,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000960601.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"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": "C",
"aa_end": null,
"aa_length": 495,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": 100,
"cds_end": null,
"cds_length": 1488,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000960596.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"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": "C",
"aa_end": null,
"aa_length": 494,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2076,
"cdna_start": 100,
"cds_end": null,
"cds_length": 1485,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000960599.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"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
},
{
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"aa_length": 493,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 112,
"cds_end": null,
"cds_length": 1482,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000960595.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"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
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 57,
"cds_end": null,
"cds_length": 1479,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 10,
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"feature": "ENST00000960605.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630664.1",
"strand": true,
"transcript": "ENST00000960605.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 166,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000960598.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630657.1",
"strand": true,
"transcript": "ENST00000960598.1",
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},
{
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"consequences": [
"missense_variant"
],
"exon_count": 9,
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"feature": "ENST00000960604.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630663.1",
"strand": true,
"transcript": "ENST00000960604.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1943,
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
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"feature": "ENST00000960603.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630662.1",
"strand": true,
"transcript": "ENST00000960603.1",
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},
{
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"cdna_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001128590.4",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001122062.3",
"strand": true,
"transcript": "NM_001128590.4",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": 57,
"cds_end": null,
"cds_length": 1398,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000435122.3",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415043.2",
"strand": true,
"transcript": "ENST00000435122.3",
"transcript_support_level": 2
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1896,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000960607.1",
"gene_hgnc_id": 2600,
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"protein_coding": true,
"protein_id": "ENSP00000630666.1",
"strand": true,
"transcript": "ENST00000960607.1",
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},
{
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000960602.1",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
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"protein_coding": true,
"protein_id": "ENSP00000630661.1",
"strand": true,
"transcript": "ENST00000960602.1",
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},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000960606.1",
"gene_hgnc_id": 2600,
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"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630665.1",
"strand": true,
"transcript": "ENST00000960606.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 579,
"cdna_start": 57,
"cds_end": null,
"cds_length": 571,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000471671.4",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418561.1",
"strand": true,
"transcript": "ENST00000471671.4",
"transcript_support_level": 4
},
{
"aa_alt": "C",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 599,
"cdna_start": 90,
"cds_end": null,
"cds_length": 558,
"cds_start": 49,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000478281.5",
"gene_hgnc_id": 2600,
"gene_symbol": "CYP21A2",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Arg17Cys",
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