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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: 5-55889536-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=55889536&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "IL31RA",
"hgnc_id": 18969,
"hgvs_c": "c.607-434C>T",
"hgvs_p": null,
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_139017.7",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 69445,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 764,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8239,
"cdna_start": null,
"cds_end": null,
"cds_length": 2295,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_139017.7",
"gene_hgnc_id": 18969,
"gene_symbol": "IL31RA",
"hgvs_c": "c.607-434C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000652347.2",
"protein_coding": true,
"protein_id": "NP_620586.3",
"strand": true,
"transcript": "NM_139017.7",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 764,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8239,
"cdna_start": null,
"cds_end": null,
"cds_length": 2295,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652347.2",
"gene_hgnc_id": 18969,
"gene_symbol": "IL31RA",
"hgvs_c": "c.607-434C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_139017.7",
"protein_coding": true,
"protein_id": "ENSP00000498630.1",
"strand": true,
"transcript": "ENST00000652347.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 681,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2533,
"cdna_start": null,
"cds_end": null,
"cds_length": 2046,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359040.10",
"gene_hgnc_id": 18969,
"gene_symbol": "IL31RA",
"hgvs_c": "c.607-434C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351935.5",
"strand": true,
"transcript": "ENST00000359040.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 622,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": null,
"cds_end": null,
"cds_length": 1869,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000490985.5",
"gene_hgnc_id": 18969,
"gene_symbol": "IL31RA",
"hgvs_c": "c.181-434C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427533.1",
"strand": true,
"transcript": "ENST00000490985.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 582,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2426,
"cdna_start": null,
"cds_end": null,
"cds_length": 1749,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396836.6",
"gene_hgnc_id": 18969,
"gene_symbol": "IL31RA",
"hgvs_c": "c.607-434C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380048.2",
"strand": true,
"transcript": "ENST00000396836.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2903,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396834.6",
"gene_hgnc_id": 18969,
"gene_symbol": "IL31RA",
"hgvs_c": "n.*758-434C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000380046.2",
"strand": true,
"transcript": "ENST00000396834.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 745,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8113,
"cdna_start": null,
"cds_end": null,
"cds_length": 2238,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001242636.2",
"gene_hgnc_id": 18969,
"gene_symbol": "IL31RA",
"hgvs_c": "c.550-434C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229565.1",
"strand": true,
"transcript": "NM_001242636.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 745,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2695,
"cdna_start": null,
"cds_end": null,
"cds_length": 2238,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000297015.7",
"gene_hgnc_id": 18969,
"gene_symbol": "IL31RA",
"hgvs_c": "c.550-434C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000297015.4",
"strand": true,
"transcript": "ENST00000297015.7",
"transcript_support_level": 5
},
{
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"aa_length": 740,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": null,
"cds_end": null,
"cds_length": 2223,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652039.2",
"gene_hgnc_id": 18969,
"gene_symbol": "IL31RA",
"hgvs_c": "c.550-434C>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498914.2",
"strand": true,
"transcript": "ENST00000652039.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2046,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001242637.2",
"gene_hgnc_id": 18969,
"gene_symbol": "IL31RA",
"hgvs_c": "c.607-434C>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229566.1",
"strand": true,
"transcript": "NM_001242637.2",
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},
{
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"consequences": [
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],
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"feature": "NM_001242638.2",
"gene_hgnc_id": 18969,
"gene_symbol": "IL31RA",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001229567.1",
"strand": true,
"transcript": "NM_001242638.2",
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},
{
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"feature": "ENST00000354961.8",
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"protein_coding": true,
"protein_id": "ENSP00000347047.4",
"strand": true,
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},
{
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"feature": "NM_001242639.2",
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"protein_id": "NP_001229568.1",
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},
{
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"consequences": [
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],
"exon_count": 11,
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"feature": "NM_001297570.3",
"gene_hgnc_id": 18969,
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"protein_coding": true,
"protein_id": "NP_001284499.1",
"strand": true,
"transcript": "NM_001297570.3",
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},
{
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],
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"feature": "XM_011543142.3",
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"protein_coding": true,
"protein_id": "XP_011541444.1",
"strand": true,
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},
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],
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"feature": "XM_047416700.1",
"gene_hgnc_id": 18969,
"gene_symbol": "IL31RA",
"hgvs_c": "c.181-434C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047272656.1",
"strand": true,
"transcript": "XM_047416700.1",
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},
{
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],
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"feature": "XM_011543145.2",
"gene_hgnc_id": 18969,
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"hgvs_c": "c.97-434C>T",
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"strand": true,
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},
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],
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},
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],
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"feature": "ENST00000651239.1",
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},
{
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"biotype": "pseudogene",
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],
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"feature": "ENST00000651309.1",
"gene_hgnc_id": 18969,
"gene_symbol": "IL31RA",
"hgvs_c": "n.672-434C>T",
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000651309.1",
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},
{
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"biotype": "pseudogene",
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000652528.1",
"gene_hgnc_id": 18969,
"gene_symbol": "IL31RA",
"hgvs_c": "n.491-434C>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000652528.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs6861890",
"effect": "intron_variant",
"frequency_reference_population": 0.45644858,
"gene_hgnc_id": 18969,
"gene_symbol": "IL31RA",
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}
]
}