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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: 2-47806512-AAA-TACG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47806512&ref=AAA&alt=TACG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 47806512,
"ref": "AAA",
"alt": "TACG",
"effect": "frameshift_variant,missense_variant",
"transcript": "NM_001406795.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3862_3864delAAAinsTACG",
"hgvs_p": "p.Lys1288fs",
"transcript": "NM_000179.3",
"protein_id": "NP_000170.1",
"transcript_support_level": null,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3862,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 3951,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": "ENST00000234420.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000179.3"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3862_3864delAAAinsTACG",
"hgvs_p": "p.Lys1288fs",
"transcript": "ENST00000234420.11",
"protein_id": "ENSP00000234420.5",
"transcript_support_level": 1,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3862,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 3951,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": "NM_000179.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000234420.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "n.*3209_*3211delAAAinsTACG",
"hgvs_p": null,
"transcript": "ENST00000445503.5",
"protein_id": "ENSP00000405294.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000445503.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "n.*3209_*3211delAAAinsTACG",
"hgvs_p": null,
"transcript": "ENST00000445503.5",
"protein_id": "ENSP00000405294.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000445503.5"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3958_3960delAAAinsTACG",
"hgvs_p": "p.Lys1320fs",
"transcript": "NM_001406795.1",
"protein_id": "NP_001393724.1",
"transcript_support_level": null,
"aa_start": 1320,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3958,
"cds_end": null,
"cds_length": 4179,
"cdna_start": 4047,
"cdna_end": null,
"cdna_length": 4361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406795.1"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3889_3891delAAAinsTACG",
"hgvs_p": "p.Lys1297fs",
"transcript": "ENST00000936511.1",
"protein_id": "ENSP00000606570.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3889,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 3908,
"cdna_end": null,
"cdna_length": 4218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936511.1"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3868_3870delAAAinsTACG",
"hgvs_p": "p.Lys1290fs",
"transcript": "NM_001406813.1",
"protein_id": "NP_001393742.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1362,
"cds_start": 3868,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 3957,
"cdna_end": null,
"cdna_length": 4271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406813.1"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3868_3870delAAAinsTACG",
"hgvs_p": "p.Lys1290fs",
"transcript": "ENST00000700002.1",
"protein_id": "ENSP00000514750.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1362,
"cds_start": 3868,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 3940,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700002.1"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3862_3864delAAAinsTACG",
"hgvs_p": "p.Lys1288fs",
"transcript": "NM_001406796.1",
"protein_id": "NP_001393725.1",
"transcript_support_level": null,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3862,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 3951,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406796.1"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3862_3864delAAAinsTACG",
"hgvs_p": "p.Lys1288fs",
"transcript": "NM_001406809.1",
"protein_id": "NP_001393738.1",
"transcript_support_level": null,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3862,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 3951,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406809.1"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3862_3864delAAAinsTACG",
"hgvs_p": "p.Lys1288fs",
"transcript": "ENST00000895687.1",
"protein_id": "ENSP00000565746.1",
"transcript_support_level": null,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3862,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 3972,
"cdna_end": null,
"cdna_length": 4344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895687.1"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3859_3861delAAAinsTACG",
"hgvs_p": "p.Lys1287fs",
"transcript": "ENST00000936508.1",
"protein_id": "ENSP00000606567.1",
"transcript_support_level": null,
"aa_start": 1287,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3859,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 3977,
"cdna_end": null,
"cdna_length": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936508.1"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3862_3864delAAAinsTACG",
"hgvs_p": "p.Lys1288fs",
"transcript": "NM_001406808.1",
"protein_id": "NP_001393737.1",
"transcript_support_level": null,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3862,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 3951,
"cdna_end": null,
"cdna_length": 4260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406808.1"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3784_3786delAAAinsTACG",
"hgvs_p": "p.Lys1262fs",
"transcript": "NM_001406804.1",
"protein_id": "NP_001393733.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1334,
"cds_start": 3784,
"cds_end": null,
"cds_length": 4005,
"cdna_start": 3928,
"cdna_end": null,
"cdna_length": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406804.1"
},
{
"aa_ref": "IN",
"aa_alt": "IT?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3849_3851delAAAinsTACG",
"hgvs_p": "p.Asn1284fs",
"transcript": "NM_001406800.1",
"protein_id": "NP_001393729.1",
"transcript_support_level": null,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3849,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 3938,
"cdna_end": null,
"cdna_length": 4252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406800.1"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3694_3696delAAAinsTACG",
"hgvs_p": "p.Lys1232fs",
"transcript": "NM_001406826.1",
"protein_id": "NP_001393755.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3694,
"cds_end": null,
"cds_length": 3915,
"cdna_start": 4074,
"cdna_end": null,
"cdna_length": 4388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406826.1"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3688_3690delAAAinsTACG",
"hgvs_p": "p.Lys1230fs",
"transcript": "NM_001406798.1",
"protein_id": "NP_001393727.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3688,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 3777,
"cdna_end": null,
"cdna_length": 4091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406798.1"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3688_3690delAAAinsTACG",
"hgvs_p": "p.Lys1230fs",
"transcript": "ENST00000936509.1",
"protein_id": "ENSP00000606568.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3688,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 3748,
"cdna_end": null,
"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936509.1"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3565_3567delAAAinsTACG",
"hgvs_p": "p.Lys1189fs",
"transcript": "NM_001406797.1",
"protein_id": "NP_001393726.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3565,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 3689,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406797.1"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3565_3567delAAAinsTACG",
"hgvs_p": "p.Lys1189fs",
"transcript": "NM_001406805.1",
"protein_id": "NP_001393734.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3565,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 3689,
"cdna_end": null,
"cdna_length": 4053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406805.1"
},
{
"aa_ref": "K",
"aa_alt": "Y?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.3565_3567delAAAinsTACG",
"hgvs_p": "p.Lys1189fs",
"transcript": "NM_001406818.1",
"protein_id": "NP_001393747.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3565,
"cds_end": null,
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{
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],
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "Lynch syndrome 5|not provided|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}