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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: 10-119818587-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119818587&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "INPP5F",
"hgnc_id": 17054,
"hgvs_c": "c.*333G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001441023.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1132,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4979,
"cdna_start": null,
"cds_end": null,
"cds_length": 3399,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014937.4",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1887-2259G>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000650623.2",
"protein_coding": true,
"protein_id": "NP_055752.1",
"strand": true,
"transcript": "NM_014937.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1132,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4979,
"cdna_start": null,
"cds_end": null,
"cds_length": 3399,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000650623.2",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1887-2259G>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014937.4",
"protein_coding": true,
"protein_id": "ENSP00000497527.1",
"strand": true,
"transcript": "ENST00000650623.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 641,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3384,
"cdna_start": null,
"cds_end": null,
"cds_length": 1926,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001441023.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.*333G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427952.1",
"strand": true,
"transcript": "NM_001441023.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1139,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5000,
"cdna_start": null,
"cds_end": null,
"cds_length": 3420,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441000.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1908-2259G>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427929.1",
"strand": true,
"transcript": "NM_001441000.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1139,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4965,
"cdna_start": null,
"cds_end": null,
"cds_length": 3420,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964566.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1908-2259G>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634625.1",
"strand": true,
"transcript": "ENST00000964566.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1115,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5078,
"cdna_start": null,
"cds_end": null,
"cds_length": 3348,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441001.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1836-2259G>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427930.1",
"strand": true,
"transcript": "NM_001441001.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1114,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4925,
"cdna_start": null,
"cds_end": null,
"cds_length": 3345,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441002.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1833-2259G>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427931.1",
"strand": true,
"transcript": "NM_001441002.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1113,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4922,
"cdna_start": null,
"cds_end": null,
"cds_length": 3342,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441003.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1830-2259G>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427932.1",
"strand": true,
"transcript": "NM_001441003.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1113,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4924,
"cdna_start": null,
"cds_end": null,
"cds_length": 3342,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895117.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1830-2259G>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565176.1",
"strand": true,
"transcript": "ENST00000895117.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1108,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4907,
"cdna_start": null,
"cds_end": null,
"cds_length": 3327,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441004.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1887-3844G>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427933.1",
"strand": true,
"transcript": "NM_001441004.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4898,
"cdna_start": null,
"cds_end": null,
"cds_length": 3318,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441005.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1806-2259G>T",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427934.1",
"strand": true,
"transcript": "NM_001441005.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 19,
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"feature": "NM_001441006.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1758-2259G>T",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427935.1",
"strand": true,
"transcript": "NM_001441006.1",
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},
{
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],
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"feature": "NM_001441007.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1758-2259G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001427936.1",
"strand": true,
"transcript": "NM_001441007.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 3270,
"cds_start": null,
"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000895118.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1758-2259G>T",
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"intron_rank": 14,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000565177.1",
"strand": true,
"transcript": "ENST00000895118.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 19,
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"feature": "ENST00000964567.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1758-2259G>T",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000634626.1",
"strand": true,
"transcript": "ENST00000964567.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441008.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1716-2259G>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427937.1",
"strand": true,
"transcript": "NM_001441008.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 3213,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000648262.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1701-2259G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000496843.1",
"strand": true,
"transcript": "ENST00000648262.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_start": null,
"consequences": [
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],
"exon_count": 21,
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"feature": "NM_001441009.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1599-2259G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001427938.1",
"strand": true,
"transcript": "NM_001441009.1",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
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"feature": "NM_001441010.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1599-2259G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001427939.1",
"strand": true,
"transcript": "NM_001441010.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 3111,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441011.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1599-2259G>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427940.1",
"strand": true,
"transcript": "NM_001441011.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5030,
"cdna_start": null,
"cds_end": null,
"cds_length": 3111,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441012.1",
"gene_hgnc_id": 17054,
"gene_symbol": "INPP5F",
"hgvs_c": "c.1599-2259G>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427941.1",
"strand": true,
"transcript": "NM_001441012.1",
"transcript_support_level": null
},
{
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