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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: 9-128956978-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128956978&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "NUP188",
"hgnc_id": 17859,
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Gln91Gln",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_015354.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ENSG00000251184",
"hgnc_id": null,
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Gln93Gln",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000482796.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14900000393390656,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1749,
"aa_ref": "Q",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5689,
"cdna_start": 294,
"cds_end": null,
"cds_length": 5250,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_015354.3",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Gln91Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372577.2",
"protein_coding": true,
"protein_id": "NP_056169.1",
"strand": true,
"transcript": "NM_015354.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1749,
"aa_ref": "Q",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5689,
"cdna_start": 294,
"cds_end": null,
"cds_length": 5250,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000372577.2",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Gln91Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015354.3",
"protein_coding": true,
"protein_id": "ENSP00000361658.2",
"strand": true,
"transcript": "ENST00000372577.2",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 106,
"aa_ref": "Q",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 378,
"cdna_start": 335,
"cds_end": null,
"cds_length": 322,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000482796.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000251184",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Gln93Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417556.2",
"strand": true,
"transcript": "ENST00000482796.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 886,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000550219.1",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "n.853G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000550219.1",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1818,
"aa_ref": "Q",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5899,
"cdna_start": 504,
"cds_end": null,
"cds_length": 5457,
"cds_start": 480,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000935260.1",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.480G>A",
"hgvs_p": "p.Gln160Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605319.1",
"strand": true,
"transcript": "ENST00000935260.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1766,
"aa_ref": "Q",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5735,
"cdna_start": 292,
"cds_end": null,
"cds_length": 5301,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935265.1",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Gln91Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605324.1",
"strand": true,
"transcript": "ENST00000935265.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1753,
"aa_ref": "Q",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5701,
"cdna_start": 294,
"cds_end": null,
"cds_length": 5262,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000870699.1",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Gln91Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540758.1",
"strand": true,
"transcript": "ENST00000870699.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1748,
"aa_ref": "Q",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5701,
"cdna_start": 306,
"cds_end": null,
"cds_length": 5247,
"cds_start": 270,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935257.1",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.270G>A",
"hgvs_p": "p.Gln90Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605316.1",
"strand": true,
"transcript": "ENST00000935257.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1748,
"aa_ref": "Q",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5700,
"cdna_start": 310,
"cds_end": null,
"cds_length": 5247,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935259.1",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Gln91Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605318.1",
"strand": true,
"transcript": "ENST00000935259.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1747,
"aa_ref": "Q",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5680,
"cdna_start": 288,
"cds_end": null,
"cds_length": 5244,
"cds_start": 267,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935263.1",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.267G>A",
"hgvs_p": "p.Gln89Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605322.1",
"strand": true,
"transcript": "ENST00000935263.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1746,
"aa_ref": "Q",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5678,
"cdna_start": 292,
"cds_end": null,
"cds_length": 5241,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935261.1",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Gln91Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605320.1",
"strand": true,
"transcript": "ENST00000935261.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1723,
"aa_ref": "Q",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5626,
"cdna_start": 309,
"cds_end": null,
"cds_length": 5172,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935258.1",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Gln91Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605317.1",
"strand": true,
"transcript": "ENST00000935258.1",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5609,
"cdna_start": 306,
"cds_end": null,
"cds_length": 5160,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000870698.1",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Gln91Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540757.1",
"strand": true,
"transcript": "ENST00000870698.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6350,
"cdna_start": 306,
"cds_end": null,
"cds_length": 5160,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935256.1",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Gln91Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605315.1",
"strand": true,
"transcript": "ENST00000935256.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1719,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5586,
"cdna_start": 284,
"cds_end": null,
"cds_length": 5160,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935267.1",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Gln91Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605326.1",
"strand": true,
"transcript": "ENST00000935267.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1706,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5559,
"cdna_start": 294,
"cds_end": null,
"cds_length": 5121,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 44,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000870700.1",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Gln91Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540759.1",
"strand": true,
"transcript": "ENST00000870700.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5558,
"cdna_start": 292,
"cds_end": null,
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"cds_start": 273,
"consequences": [
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],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935262.1",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Gln91Gln",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000605321.1",
"strand": true,
"transcript": "ENST00000935262.1",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5523,
"cdna_start": 294,
"cds_end": null,
"cds_length": 5088,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935264.1",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Gln91Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605323.1",
"strand": true,
"transcript": "ENST00000935264.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1640,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5351,
"cdna_start": 285,
"cds_end": null,
"cds_length": 4923,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935266.1",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Gln91Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605325.1",
"strand": true,
"transcript": "ENST00000935266.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 381,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000491990.5",
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"hgvs_c": "n.286G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000491990.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs764882564",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000012398457,
"gene_hgnc_id": 17859,
"gene_symbol": "NUP188",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.845e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.357,
"pos": 128956978,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.149,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_015354.3"
}
]
}