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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: 11-72000352-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72000352&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "IL18BP",
"hgnc_id": 5987,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_005699.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8600000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1697,
"cdna_start": 199,
"cds_end": null,
"cds_length": 585,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001039660.2",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393703.9",
"protein_coding": true,
"protein_id": "NP_001034749.1",
"strand": true,
"transcript": "NM_001039660.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1697,
"cdna_start": 199,
"cds_end": null,
"cds_length": 585,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000393703.9",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001039660.2",
"protein_coding": true,
"protein_id": "ENSP00000377306.4",
"strand": true,
"transcript": "ENST00000393703.9",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 199,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4080,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 600,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000497194.6",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434717.1",
"strand": true,
"transcript": "ENST00000497194.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": 328,
"cds_end": null,
"cds_length": 585,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000393705.8",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377308.4",
"strand": true,
"transcript": "ENST00000393705.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 952,
"cds_end": null,
"cds_length": 585,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000404792.5",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384212.1",
"strand": true,
"transcript": "ENST00000404792.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 115,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1037,
"cdna_start": 88,
"cds_end": null,
"cds_length": 348,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000393707.4",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377310.4",
"strand": true,
"transcript": "ENST00000393707.4",
"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": 1720,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000343898.9",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "n.30C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000343309.5",
"strand": true,
"transcript": "ENST00000343898.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 199,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2796,
"cdna_start": 952,
"cds_end": null,
"cds_length": 600,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_005699.3",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005690.2",
"strand": true,
"transcript": "NM_005699.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 199,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 853,
"cdna_start": 183,
"cds_end": null,
"cds_length": 600,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000531053.5",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434835.1",
"strand": true,
"transcript": "ENST00000531053.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 311,
"cds_end": null,
"cds_length": 585,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001039659.2",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001034748.1",
"strand": true,
"transcript": "NM_001039659.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1356,
"cdna_start": 134,
"cds_end": null,
"cds_length": 585,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001145057.1",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138529.1",
"strand": true,
"transcript": "NM_001145057.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2174,
"cdna_start": 952,
"cds_end": null,
"cds_length": 585,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_173042.2",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_766630.2",
"strand": true,
"transcript": "NM_173042.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1606,
"cdna_start": 385,
"cds_end": null,
"cds_length": 585,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000337131.9",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000338723.5",
"strand": true,
"transcript": "ENST00000337131.9",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1497,
"cdna_start": 272,
"cds_end": null,
"cds_length": 585,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000905061.1",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575120.1",
"strand": true,
"transcript": "ENST00000905061.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": 326,
"cds_end": null,
"cds_length": 585,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905062.1",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575121.1",
"strand": true,
"transcript": "ENST00000905062.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 397,
"cds_end": null,
"cds_length": 585,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000905063.1",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575122.1",
"strand": true,
"transcript": "ENST00000905063.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": 284,
"cds_end": null,
"cds_length": 585,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000905064.1",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575123.1",
"strand": true,
"transcript": "ENST00000905064.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1964,
"cdna_start": 745,
"cds_end": null,
"cds_length": 585,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000905066.1",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575125.1",
"strand": true,
"transcript": "ENST00000905066.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1528,
"cdna_start": 304,
"cds_end": null,
"cds_length": 585,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905067.1",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575126.1",
"strand": true,
"transcript": "ENST00000905067.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": 500,
"cds_end": null,
"cds_length": 585,
"cds_start": 30,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905068.1",
"gene_hgnc_id": 5987,
"gene_symbol": "IL18BP",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Asp10Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575127.1",
"strand": true,
"transcript": "ENST00000905068.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
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{
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{
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"feature": "ENST00000698840.1",
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],
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"dbscsnv_ada_prediction": "Benign",
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"effect": "splice_region_variant,synonymous_variant",
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"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
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}
]
}