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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: 2-47482828-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47482828&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MSH2",
"hgnc_id": 7325,
"hgvs_c": "c.2723C>A",
"hgvs_p": "p.Pro908His",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001406638.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2134,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Hereditary cancer-predisposing syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7370280027389526,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 934,
"aa_ref": "P",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 2720,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2684,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_000251.3",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2684C>A",
"hgvs_p": "p.Pro895His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000233146.7",
"protein_coding": true,
"protein_id": "NP_000242.1",
"strand": true,
"transcript": "NM_000251.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 934,
"aa_ref": "P",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 2720,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2684,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000233146.7",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2684C>A",
"hgvs_p": "p.Pro895His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000251.3",
"protein_coding": true,
"protein_id": "ENSP00000233146.2",
"strand": true,
"transcript": "ENST00000233146.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 921,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": null,
"cds_end": null,
"cds_length": 2766,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000406134.5",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2634+1957C>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384199.1",
"strand": true,
"transcript": "ENST00000406134.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 951,
"aa_ref": "P",
"aa_start": 912,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 2760,
"cds_end": null,
"cds_length": 2856,
"cds_start": 2735,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000918107.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2735C>A",
"hgvs_p": "p.Pro912His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588166.1",
"strand": true,
"transcript": "ENST00000918107.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 947,
"aa_ref": "P",
"aa_start": 908,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10637,
"cdna_start": 2759,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2723,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001406638.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2723C>A",
"hgvs_p": "p.Pro908His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393567.1",
"strand": true,
"transcript": "NM_001406638.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 947,
"aa_ref": "P",
"aa_start": 908,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": 2826,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2723,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000946816.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2723C>A",
"hgvs_p": "p.Pro908His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616875.1",
"strand": true,
"transcript": "ENST00000946816.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 934,
"aa_ref": "P",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10598,
"cdna_start": 2720,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2684,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001406641.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2684C>A",
"hgvs_p": "p.Pro895His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393570.1",
"strand": true,
"transcript": "NM_001406641.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 934,
"aa_ref": "P",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3802,
"cdna_start": 2709,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2684,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000910408.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2684C>A",
"hgvs_p": "p.Pro895His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580467.1",
"strand": true,
"transcript": "ENST00000910408.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 933,
"aa_ref": "P",
"aa_start": 894,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3174,
"cdna_start": 2782,
"cds_end": null,
"cds_length": 2802,
"cds_start": 2681,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000910409.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2681C>A",
"hgvs_p": "p.Pro894His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580468.1",
"strand": true,
"transcript": "ENST00000910409.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 931,
"aa_ref": "P",
"aa_start": 892,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3123,
"cdna_start": 2724,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2675,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000918103.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2675C>A",
"hgvs_p": "p.Pro892His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588162.1",
"strand": true,
"transcript": "ENST00000918103.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 926,
"aa_ref": "P",
"aa_start": 887,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 2713,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2660,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000918102.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2660C>A",
"hgvs_p": "p.Pro887His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588161.1",
"strand": true,
"transcript": "ENST00000918102.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 922,
"aa_ref": "P",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3086,
"cdna_start": 2691,
"cds_end": null,
"cds_length": 2769,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000918104.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2648C>A",
"hgvs_p": "p.Pro883His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588163.1",
"strand": true,
"transcript": "ENST00000918104.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 914,
"aa_ref": "P",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 2660,
"cds_end": null,
"cds_length": 2745,
"cds_start": 2624,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000918106.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2624C>A",
"hgvs_p": "p.Pro875His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588165.1",
"strand": true,
"transcript": "ENST00000918106.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 885,
"aa_ref": "P",
"aa_start": 846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2974,
"cdna_start": 2574,
"cds_end": null,
"cds_length": 2658,
"cds_start": 2537,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000918105.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2537C>A",
"hgvs_p": "p.Pro846His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588164.1",
"strand": true,
"transcript": "ENST00000918105.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 884,
"aa_ref": "P",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10448,
"cdna_start": 2570,
"cds_end": null,
"cds_length": 2655,
"cds_start": 2534,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001406649.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2534C>A",
"hgvs_p": "p.Pro845His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393578.1",
"strand": true,
"transcript": "NM_001406649.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 884,
"aa_ref": "P",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": 2570,
"cds_end": null,
"cds_length": 2655,
"cds_start": 2534,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001406650.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2534C>A",
"hgvs_p": "p.Pro845His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393579.1",
"strand": true,
"transcript": "NM_001406650.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 884,
"aa_ref": "P",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 2596,
"cds_end": null,
"cds_length": 2655,
"cds_start": 2534,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000713854.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2534C>A",
"hgvs_p": "p.Pro845His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519159.1",
"strand": true,
"transcript": "ENST00000713854.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 868,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3025,
"cdna_start": 2625,
"cds_end": null,
"cds_length": 2607,
"cds_start": 2486,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001258281.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2486C>A",
"hgvs_p": "p.Pro829His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245210.1",
"strand": true,
"transcript": "NM_001258281.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 868,
"aa_ref": "P",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 2625,
"cds_end": null,
"cds_length": 2607,
"cds_start": 2486,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000543555.6",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2486C>A",
"hgvs_p": "p.Pro829His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442697.1",
"strand": true,
"transcript": "ENST00000543555.6",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 863,
"aa_ref": "P",
"aa_start": 824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2952,
"cdna_start": 2560,
"cds_end": null,
"cds_length": 2592,
"cds_start": 2471,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000918101.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.2471C>A",
"hgvs_p": "p.Pro824His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588160.1",
"strand": true,
"transcript": "ENST00000918101.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 841,
"aa_ref": "P",
"aa_start": 802,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 2430,
"cds_end": null,
"cds_length": 2526,
"cds_start": 2405,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000713919.1",
"gene_hgnc_id": 7325,
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