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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: 1-182816749-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=182816749&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NPL",
"hgnc_id": 16781,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Ala134Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_030769.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.1198,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.01,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.36455559730529785,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 320,
"aa_ref": "A",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": 504,
"cds_end": null,
"cds_length": 963,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_030769.3",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Ala134Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367553.6",
"protein_coding": true,
"protein_id": "NP_110396.1",
"strand": true,
"transcript": "NM_030769.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 320,
"aa_ref": "A",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": 504,
"cds_end": null,
"cds_length": 963,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000367553.6",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Ala134Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030769.3",
"protein_coding": true,
"protein_id": "ENSP00000356524.1",
"strand": true,
"transcript": "ENST00000367553.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 320,
"aa_ref": "A",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 422,
"cds_end": null,
"cds_length": 963,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000258317.6",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Ala134Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000258317.2",
"strand": true,
"transcript": "ENST00000258317.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 301,
"aa_ref": "A",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3027,
"cdna_start": 988,
"cds_end": null,
"cds_length": 906,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000367554.7",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.343G>A",
"hgvs_p": "p.Ala115Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356525.3",
"strand": true,
"transcript": "ENST00000367554.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 745,
"cdna_start": 422,
"cds_end": null,
"cds_length": 723,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000367552.6",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Ala134Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356523.2",
"strand": true,
"transcript": "ENST00000367552.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 240,
"aa_ref": "A",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1536,
"cdna_start": 508,
"cds_end": null,
"cds_length": 723,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000367555.5",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Ala134Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356526.1",
"strand": true,
"transcript": "ENST00000367555.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000463899.5",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "n.791G>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": "ENST00000463899.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000488424.5",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "n.984G>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": "ENST00000488424.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 357,
"aa_ref": "A",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3386,
"cdna_start": 714,
"cds_end": null,
"cds_length": 1074,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879498.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Ala171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549557.1",
"strand": true,
"transcript": "ENST00000879498.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 357,
"aa_ref": "A",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 784,
"cds_end": null,
"cds_length": 1074,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879503.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Ala171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549562.1",
"strand": true,
"transcript": "ENST00000879503.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 357,
"aa_ref": "A",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1074,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879505.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Ala171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549564.1",
"strand": true,
"transcript": "ENST00000879505.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 357,
"aa_ref": "A",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 717,
"cds_end": null,
"cds_length": 1074,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879515.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Ala171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549574.1",
"strand": true,
"transcript": "ENST00000879515.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 357,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1074,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000949075.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Ala171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619134.1",
"strand": true,
"transcript": "ENST00000949075.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 357,
"aa_ref": "A",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1074,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000949076.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Ala171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619135.1",
"strand": true,
"transcript": "ENST00000949076.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 357,
"aa_ref": "A",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4819,
"cdna_start": 3036,
"cds_end": null,
"cds_length": 1074,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000949079.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Ala171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619138.1",
"strand": true,
"transcript": "ENST00000949079.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 357,
"aa_ref": "A",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 560,
"cds_end": null,
"cds_length": 1074,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000949080.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Ala171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619139.1",
"strand": true,
"transcript": "ENST00000949080.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 357,
"aa_ref": "A",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1797,
"cdna_start": 713,
"cds_end": null,
"cds_length": 1074,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000949081.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Ala171Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619140.1",
"strand": true,
"transcript": "ENST00000949081.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 357,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": 2777,
"cds_end": null,
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"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000949082.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Ala171Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619141.1",
"strand": true,
"transcript": "ENST00000949082.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 352,
"aa_ref": "A",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1381,
"cdna_start": 699,
"cds_end": null,
"cds_length": 1059,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879518.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Ala166Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549577.1",
"strand": true,
"transcript": "ENST00000879518.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 321,
"aa_ref": "A",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 603,
"cds_end": null,
"cds_length": 966,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879511.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Ala134Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549570.1",
"strand": true,
"transcript": "ENST00000879511.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 320,
"aa_ref": "A",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 607,
"cds_end": null,
"cds_length": 963,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879499.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Ala134Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549558.1",
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]
}