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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: 16-4487692-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4487692&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4487692,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000570646.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMOX2",
"gene_hgnc_id": 5014,
"hgvs_c": "c.-42+11205T>G",
"hgvs_p": null,
"transcript": "NM_002134.4",
"protein_id": "NP_002125.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": "ENST00000570646.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMOX2",
"gene_hgnc_id": 5014,
"hgvs_c": "c.-42+11205T>G",
"hgvs_p": null,
"transcript": "ENST00000570646.6",
"protein_id": "ENSP00000459214.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": "NM_002134.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMOX2",
"gene_hgnc_id": 5014,
"hgvs_c": "c.1-8454T>G",
"hgvs_p": null,
"transcript": "NM_001286267.2",
"protein_id": "NP_001273196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HMOX2",
"gene_hgnc_id": 5014,
"hgvs_c": "c.-42+3938T>G",
"hgvs_p": null,
"transcript": "NM_001127204.2",
"protein_id": "NP_001120676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMOX2",
"gene_hgnc_id": 5014,
"hgvs_c": "c.-42+12845T>G",
"hgvs_p": null,
"transcript": "NM_001127206.3",
"protein_id": "NP_001120678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMOX2",
"gene_hgnc_id": 5014,
"hgvs_c": "c.-42+11027T>G",
"hgvs_p": null,
"transcript": "NM_001286268.2",
"protein_id": "NP_001273197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMOX2",
"gene_hgnc_id": 5014,
"hgvs_c": "c.-140-952T>G",
"hgvs_p": null,
"transcript": "NM_001286269.2",
"protein_id": "NP_001273198.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMOX2",
"gene_hgnc_id": 5014,
"hgvs_c": "c.-42+11275T>G",
"hgvs_p": null,
"transcript": "ENST00000219700.10",
"protein_id": "ENSP00000219700.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMOX2",
"gene_hgnc_id": 5014,
"hgvs_c": "c.-42+12845T>G",
"hgvs_p": null,
"transcript": "ENST00000406590.6",
"protein_id": "ENSP00000385100.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HMOX2",
"gene_hgnc_id": 5014,
"hgvs_c": "c.-42+3938T>G",
"hgvs_p": null,
"transcript": "ENST00000458134.7",
"protein_id": "ENSP00000394103.3",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 316,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "HMOX2",
"gene_hgnc_id": 5014,
"hgvs_c": "c.-140-952T>G",
"hgvs_p": null,
"transcript": "ENST00000619528.4",
"protein_id": "ENSP00000484423.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 6,
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"gene_symbol": "HMOX2",
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"transcript": "ENST00000619913.4",
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},
{
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],
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"gene_symbol": "HMOX2",
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"hgvs_c": "c.-2+11205T>G",
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"transcript": "NM_001286271.2",
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},
{
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],
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"gene_symbol": "HMOX2",
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"hgvs_c": "c.-2+11205T>G",
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"transcript": "ENST00000575120.5",
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},
{
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],
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"gene_symbol": "HMOX2",
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"transcript": "ENST00000575051.5",
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},
{
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],
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"gene_symbol": "HMOX2",
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"hgvs_c": "c.-42+3938T>G",
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"transcript": "ENST00000570445.5",
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},
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],
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"gene_symbol": "HMOX2",
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"hgvs_c": "c.-140-952T>G",
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"transcript": "ENST00000576827.5",
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},
{
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],
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"gene_symbol": "HMOX2",
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"hgvs_c": "c.-42+11027T>G",
"hgvs_p": null,
"transcript": "ENST00000574466.5",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "HMOX2",
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"hgvs_c": "c.-42+3954T>G",
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"transcript": "ENST00000572812.5",
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},
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],
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"gene_symbol": "NMRAL1",
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},
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],
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},
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"consequences": [
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],
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "HMOX2",
"gene_hgnc_id": 5014,
"hgvs_c": "c.-42+3950T>G",
"hgvs_p": null,
"transcript": "XM_017023196.3",
"protein_id": "XP_016878685.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124903636",
"gene_hgnc_id": null,
"hgvs_c": "n.410-5813A>C",
"hgvs_p": null,
"transcript": "XR_007064964.1",
"protein_id": null,
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}
],
"gene_symbol": "HMOX2",
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"dbsnp": "rs4786504",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.01,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.052,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000570646.6",
"gene_symbol": "HMOX2",
"hgnc_id": 5014,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-42+11205T>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000572559.1",
"gene_symbol": "NMRAL1",
"hgnc_id": 24987,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.250-5813A>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007064964.1",
"gene_symbol": "LOC124903636",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.410-5813A>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}