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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: 17-81251524-CG-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81251524&ref=CG&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC38A10",
"hgnc_id": 28237,
"hgvs_c": "c.2033_2034delCGinsTC",
"hgvs_p": "p.Ala678Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001037984.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000276101",
"hgnc_id": null,
"hgvs_c": "n.331_332delCGinsGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000611259.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4491,
"cdna_start": 2420,
"cds_end": null,
"cds_length": 3360,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001037984.3",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2033_2034delCGinsTC",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374759.8",
"protein_coding": true,
"protein_id": "NP_001033073.1",
"strand": false,
"transcript": "NM_001037984.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4491,
"cdna_start": 2420,
"cds_end": null,
"cds_length": 3360,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374759.8",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2033_2034delCGinsTC",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001037984.3",
"protein_coding": true,
"protein_id": "ENSP00000363891.3",
"strand": false,
"transcript": "ENST00000374759.8",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 780,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 2380,
"cds_end": null,
"cds_length": 2343,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000288439.9",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2033_2034delCGinsTC",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000288439.5",
"strand": false,
"transcript": "ENST00000288439.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1176,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4470,
"cdna_start": 2416,
"cds_end": null,
"cds_length": 3531,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947966.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2033_2034delCGinsTC",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618025.1",
"strand": false,
"transcript": "ENST00000947966.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4415,
"cdna_start": 2387,
"cds_end": null,
"cds_length": 3507,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947971.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2033_2034delCGinsTC",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618030.1",
"strand": false,
"transcript": "ENST00000947971.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "A",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 2567,
"cds_end": null,
"cds_length": 3498,
"cds_start": 2171,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918313.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2171_2172delCGinsTC",
"hgvs_p": "p.Ala724Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588372.1",
"strand": false,
"transcript": "ENST00000918313.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "A",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4402,
"cdna_start": 2532,
"cds_end": null,
"cds_length": 3480,
"cds_start": 2153,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947968.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2153_2154delCGinsTC",
"hgvs_p": "p.Ala718Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618027.1",
"strand": false,
"transcript": "ENST00000947968.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1153,
"aa_ref": "A",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4432,
"cdna_start": 2551,
"cds_end": null,
"cds_length": 3462,
"cds_start": 2135,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899482.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2135_2136delCGinsTC",
"hgvs_p": "p.Ala712Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569541.1",
"strand": false,
"transcript": "ENST00000899482.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "A",
"aa_start": 701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4377,
"cdna_start": 2495,
"cds_end": null,
"cds_length": 3429,
"cds_start": 2102,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947963.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2102_2103delCGinsTC",
"hgvs_p": "p.Ala701Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618022.1",
"strand": false,
"transcript": "ENST00000947963.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "A",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4331,
"cdna_start": 2433,
"cds_end": null,
"cds_length": 3402,
"cds_start": 2054,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947967.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2054_2055delCGinsTC",
"hgvs_p": "p.Ala685Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618026.1",
"strand": false,
"transcript": "ENST00000947967.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1128,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4354,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 3387,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947959.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2033_2034delCGinsTC",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618018.1",
"strand": false,
"transcript": "ENST00000947959.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "A",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4323,
"cdna_start": 2441,
"cds_end": null,
"cds_length": 3381,
"cds_start": 2054,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899487.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2054_2055delCGinsTC",
"hgvs_p": "p.Ala685Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569546.1",
"strand": false,
"transcript": "ENST00000899487.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4315,
"cdna_start": 2412,
"cds_end": null,
"cds_length": 3381,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899490.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2033_2034delCGinsTC",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569549.1",
"strand": false,
"transcript": "ENST00000899490.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "A",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3881,
"cdna_start": 2388,
"cds_end": null,
"cds_length": 3336,
"cds_start": 2009,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899495.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.2009_2010delCGinsTC",
"hgvs_p": "p.Ala670Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569554.1",
"strand": false,
"transcript": "ENST00000899495.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "A",
"aa_start": 666,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4267,
"cdna_start": 2384,
"cds_end": null,
"cds_length": 3324,
"cds_start": 1997,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899485.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.1997_1998delCGinsTC",
"hgvs_p": "p.Ala666Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569544.1",
"strand": false,
"transcript": "ENST00000899485.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1080,
"aa_ref": "A",
"aa_start": 639,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4185,
"cdna_start": 2303,
"cds_end": null,
"cds_length": 3243,
"cds_start": 1916,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899488.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.1916_1917delCGinsTC",
"hgvs_p": "p.Ala639Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569547.1",
"strand": false,
"transcript": "ENST00000899488.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1065,
"aa_ref": "A",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4153,
"cdna_start": 2271,
"cds_end": null,
"cds_length": 3198,
"cds_start": 1871,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947960.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.1871_1872delCGinsTC",
"hgvs_p": "p.Ala624Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618019.1",
"strand": false,
"transcript": "ENST00000947960.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": 2219,
"cds_end": null,
"cds_length": 3177,
"cds_start": 1850,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947969.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.1850_1851delCGinsTC",
"hgvs_p": "p.Ala617Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618028.1",
"strand": false,
"transcript": "ENST00000947969.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "A",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": 2224,
"cds_end": null,
"cds_length": 3162,
"cds_start": 1835,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947964.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.1835_1836delCGinsTC",
"hgvs_p": "p.Ala612Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618023.1",
"strand": false,
"transcript": "ENST00000947964.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1046,
"aa_ref": "A",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4092,
"cdna_start": 2210,
"cds_end": null,
"cds_length": 3141,
"cds_start": 1814,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899483.1",
"gene_hgnc_id": 28237,
"gene_symbol": "SLC38A10",
"hgvs_c": "c.1814_1815delCGinsTC",
"hgvs_p": "p.Ala605Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569542.1",
"strand": false,
"transcript": "ENST00000899483.1",
"transcript_support_level": null
},
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