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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: 6-32038419-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32038419&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32038419,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_000500.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.-4C>T",
"hgvs_p": null,
"transcript": "NM_000500.9",
"protein_id": "NP_000491.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": "ENST00000644719.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000500.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.-4C>T",
"hgvs_p": null,
"transcript": "ENST00000644719.2",
"protein_id": "ENSP00000496625.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": "NM_000500.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644719.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.-4C>T",
"hgvs_p": null,
"transcript": "NM_000500.9",
"protein_id": "NP_000491.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": "ENST00000644719.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000500.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.-4C>T",
"hgvs_p": null,
"transcript": "ENST00000644719.2",
"protein_id": "ENSP00000496625.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": "NM_000500.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644719.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.-4C>T",
"hgvs_p": null,
"transcript": "ENST00000960600.1",
"protein_id": "ENSP00000630659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": null,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960600.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.-4C>T",
"hgvs_p": null,
"transcript": "ENST00000960597.1",
"protein_id": "ENSP00000630656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": null,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960597.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.-4C>T",
"hgvs_p": null,
"transcript": "ENST00000960601.1",
"protein_id": "ENSP00000630660.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": null,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960601.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.-4C>T",
"hgvs_p": null,
"transcript": "ENST00000960596.1",
"protein_id": "ENSP00000630655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960596.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.-4C>T",
"hgvs_p": null,
"transcript": "ENST00000960599.1",
"protein_id": "ENSP00000630658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": null,
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"cds_length": 1485,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960599.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.-4C>T",
"hgvs_p": null,
"transcript": "ENST00000960595.1",
"protein_id": "ENSP00000630654.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2731,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000960595.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "CYP21A2",
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"hgvs_c": "c.-4C>T",
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"transcript": "ENST00000960605.1",
"protein_id": "ENSP00000630664.1",
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"cds_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.-4C>T",
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"transcript": "ENST00000960598.1",
"protein_id": "ENSP00000630657.1",
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000960598.1"
},
{
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"protein_coding": true,
"strand": true,
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"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "CYP21A2",
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"hgvs_c": "c.-4C>T",
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"transcript": "ENST00000960604.1",
"protein_id": "ENSP00000630663.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "CYP21A2",
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"hgvs_c": "c.-4C>T",
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"transcript": "ENST00000960603.1",
"protein_id": "ENSP00000630662.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960603.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.-4C>T",
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"transcript": "NM_001128590.4",
"protein_id": "NP_001122062.3",
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},
{
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"strand": true,
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],
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"intron_rank": null,
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"gene_symbol": "CYP21A2",
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"hgvs_c": "c.-4C>T",
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"transcript": "ENST00000435122.3",
"protein_id": "ENSP00000415043.2",
"transcript_support_level": 2,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000435122.3"
},
{
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"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.-4C>T",
"hgvs_p": null,
"transcript": "ENST00000960607.1",
"protein_id": "ENSP00000630666.1",
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"cds_start": null,
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"cdna_start": null,
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"feature": "ENST00000960607.1"
},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "CYP21A2",
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"hgvs_c": "c.-4C>T",
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},
{
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],
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"hgvs_c": "c.-4C>T",
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"feature": "ENST00000960606.1"
},
{
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],
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"intron_rank": null,
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"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.-428C>T",
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"transcript": "NM_001368143.2",
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"biotype": "protein_coding",
"feature": "NM_001368143.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.-338C>T",
"hgvs_p": null,
"transcript": "NM_001368144.2",
"protein_id": "NP_001355073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368144.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.-4C>T",
"hgvs_p": null,
"transcript": "ENST00000471671.4",
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],
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.88,
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"phylop100way_score": -3.717,
"phylop100way_prediction": "Benign",
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"acmg_score": -20,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -20,
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"pathogenic_score": 0,
"criteria": [
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"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000500.9",
"gene_symbol": "CYP21A2",
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"effects": [
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}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}