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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: 2-47806247-A-AGTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47806247&ref=A&alt=AGTT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting",
"PP3"
],
"effects": [
"conservative_inframe_insertion"
],
"gene_symbol": "MSH6",
"hgnc_id": 7329,
"hgvs_c": "c.3790_3792dupGTT",
"hgvs_p": "p.Val1264dup",
"inheritance_mode": "AD,AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001406795.1",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "FBXO11",
"hgnc_id": 13590,
"hgvs_c": "n.4498_4500dupAAC",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000682451.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM4_Supporting,PP3",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGTT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Lynch syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1360,
"aa_ref": "K",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4265,
"cdna_start": 3786,
"cds_end": null,
"cds_length": 4083,
"cds_start": 3697,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000179.3",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3694_3696dupGTT",
"hgvs_p": "p.Val1232dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000234420.11",
"protein_coding": true,
"protein_id": "NP_000170.1",
"strand": true,
"transcript": "NM_000179.3",
"transcript_support_level": null
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1360,
"aa_ref": "K",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4265,
"cdna_start": 3786,
"cds_end": null,
"cds_length": 4083,
"cds_start": 3697,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000234420.11",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3694_3696dupGTT",
"hgvs_p": "p.Val1232dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000179.3",
"protein_coding": true,
"protein_id": "ENSP00000234420.5",
"strand": true,
"transcript": "ENST00000234420.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4158,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000445503.5",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "n.*3041_*3043dupGTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000405294.1",
"strand": true,
"transcript": "ENST00000445503.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4158,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000445503.5",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "n.*3041_*3043dupGTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000405294.1",
"strand": true,
"transcript": "ENST00000445503.5",
"transcript_support_level": 1
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1392,
"aa_ref": "K",
"aa_start": 1265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4361,
"cdna_start": 3882,
"cds_end": null,
"cds_length": 4179,
"cds_start": 3793,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001406795.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3790_3792dupGTT",
"hgvs_p": "p.Val1264dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393724.1",
"strand": true,
"transcript": "NM_001406795.1",
"transcript_support_level": null
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1369,
"aa_ref": "K",
"aa_start": 1242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4218,
"cdna_start": 3743,
"cds_end": null,
"cds_length": 4110,
"cds_start": 3724,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000936511.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3721_3723dupGTT",
"hgvs_p": "p.Val1241dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606570.1",
"strand": true,
"transcript": "ENST00000936511.1",
"transcript_support_level": null
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1362,
"aa_ref": "K",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4271,
"cdna_start": 3792,
"cds_end": null,
"cds_length": 4089,
"cds_start": 3703,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001406813.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3700_3702dupGTT",
"hgvs_p": "p.Val1234dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393742.1",
"strand": true,
"transcript": "NM_001406813.1",
"transcript_support_level": null
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1362,
"aa_ref": "K",
"aa_start": 1235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4233,
"cdna_start": 3775,
"cds_end": null,
"cds_length": 4089,
"cds_start": 3703,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000700002.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3700_3702dupGTT",
"hgvs_p": "p.Val1234dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514750.1",
"strand": true,
"transcript": "ENST00000700002.1",
"transcript_support_level": null
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1360,
"aa_ref": "K",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4315,
"cdna_start": 3786,
"cds_end": null,
"cds_length": 4083,
"cds_start": 3697,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001406796.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3694_3696dupGTT",
"hgvs_p": "p.Val1232dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393725.1",
"strand": true,
"transcript": "NM_001406796.1",
"transcript_support_level": null
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1360,
"aa_ref": "K",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4318,
"cdna_start": 3786,
"cds_end": null,
"cds_length": 4083,
"cds_start": 3697,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001406809.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3694_3696dupGTT",
"hgvs_p": "p.Val1232dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393738.1",
"strand": true,
"transcript": "NM_001406809.1",
"transcript_support_level": null
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1360,
"aa_ref": "K",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4344,
"cdna_start": 3807,
"cds_end": null,
"cds_length": 4083,
"cds_start": 3697,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000895687.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3694_3696dupGTT",
"hgvs_p": "p.Val1232dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565746.1",
"strand": true,
"transcript": "ENST00000895687.1",
"transcript_support_level": null
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1359,
"aa_ref": "K",
"aa_start": 1232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4291,
"cdna_start": 3812,
"cds_end": null,
"cds_length": 4080,
"cds_start": 3694,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000936508.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3691_3693dupGTT",
"hgvs_p": "p.Val1231dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606567.1",
"strand": true,
"transcript": "ENST00000936508.1",
"transcript_support_level": null
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1337,
"aa_ref": "K",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4260,
"cdna_start": 3786,
"cds_end": null,
"cds_length": 4014,
"cds_start": 3697,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001406808.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3694_3696dupGTT",
"hgvs_p": "p.Val1232dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393737.1",
"strand": true,
"transcript": "NM_001406808.1",
"transcript_support_level": null
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1334,
"aa_ref": "K",
"aa_start": 1207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4242,
"cdna_start": 3763,
"cds_end": null,
"cds_length": 4005,
"cds_start": 3619,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001406804.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3616_3618dupGTT",
"hgvs_p": "p.Val1206dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393733.1",
"strand": true,
"transcript": "NM_001406804.1",
"transcript_support_level": null
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1321,
"aa_ref": "K",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4252,
"cdna_start": 3786,
"cds_end": null,
"cds_length": 3966,
"cds_start": 3697,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001406800.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3694_3696dupGTT",
"hgvs_p": "p.Val1232dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393729.1",
"strand": true,
"transcript": "NM_001406800.1",
"transcript_support_level": null
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1304,
"aa_ref": "K",
"aa_start": 1265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4161,
"cdna_start": 3882,
"cds_end": null,
"cds_length": 3915,
"cds_start": 3793,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001406802.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3790_3792dupGTT",
"hgvs_p": "p.Val1264dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393731.1",
"strand": true,
"transcript": "NM_001406802.1",
"transcript_support_level": null
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1304,
"aa_ref": "K",
"aa_start": 1177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4388,
"cdna_start": 3909,
"cds_end": null,
"cds_length": 3915,
"cds_start": 3529,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001406826.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3526_3528dupGTT",
"hgvs_p": "p.Val1176dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393755.1",
"strand": true,
"transcript": "NM_001406826.1",
"transcript_support_level": null
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1302,
"aa_ref": "K",
"aa_start": 1175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4091,
"cdna_start": 3612,
"cds_end": null,
"cds_length": 3909,
"cds_start": 3523,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001406798.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3520_3522dupGTT",
"hgvs_p": "p.Val1174dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393727.1",
"strand": true,
"transcript": "NM_001406798.1",
"transcript_support_level": null
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1302,
"aa_ref": "K",
"aa_start": 1175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4059,
"cdna_start": 3583,
"cds_end": null,
"cds_length": 3909,
"cds_start": 3523,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000936509.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3520_3522dupGTT",
"hgvs_p": "p.Val1174dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606568.1",
"strand": true,
"transcript": "ENST00000936509.1",
"transcript_support_level": null
},
{
"aa_alt": "VK",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "K",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4003,
"cdna_start": 3524,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3400,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001406797.1",
"gene_hgnc_id": 7329,
"gene_symbol": "MSH6",
"hgvs_c": "c.3397_3399dupGTT",
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