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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: 2-47808162-CAT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47808162&ref=CAT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 47808162,
"ref": "CAT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001190274.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2738_2739delAT",
"hgvs_p": "p.Tyr913fs",
"transcript": "NM_001190274.2",
"protein_id": "NP_001177203.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 927,
"cds_start": 2738,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000403359.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190274.2"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2738_2739delAT",
"hgvs_p": "p.Tyr913fs",
"transcript": "ENST00000403359.8",
"protein_id": "ENSP00000384823.4",
"transcript_support_level": 1,
"aa_start": 913,
"aa_end": null,
"aa_length": 927,
"cds_start": 2738,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001190274.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403359.8"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2486_2487delAT",
"hgvs_p": "p.Tyr829fs",
"transcript": "ENST00000402508.5",
"protein_id": "ENSP00000385398.1",
"transcript_support_level": 1,
"aa_start": 829,
"aa_end": null,
"aa_length": 843,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402508.5"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2735_2736delAT",
"hgvs_p": "p.Tyr912fs",
"transcript": "ENST00000895446.1",
"protein_id": "ENSP00000565505.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 926,
"cds_start": 2735,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895446.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2717_2718delAT",
"hgvs_p": "p.Tyr906fs",
"transcript": "ENST00000945015.1",
"protein_id": "ENSP00000615074.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 920,
"cds_start": 2717,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945015.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2627_2628delAT",
"hgvs_p": "p.Tyr876fs",
"transcript": "ENST00000945016.1",
"protein_id": "ENSP00000615075.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 890,
"cds_start": 2627,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945016.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2567_2568delAT",
"hgvs_p": "p.Tyr856fs",
"transcript": "ENST00000683894.1",
"protein_id": "ENSP00000507789.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 870,
"cds_start": 2567,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683894.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2486_2487delAT",
"hgvs_p": "p.Tyr829fs",
"transcript": "NM_001374325.1",
"protein_id": "NP_001361254.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 843,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374325.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2486_2487delAT",
"hgvs_p": "p.Tyr829fs",
"transcript": "NM_025133.4",
"protein_id": "NP_079409.3",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 843,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025133.4"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2819_2820delAT",
"hgvs_p": "p.Tyr940fs",
"transcript": "XM_005264572.6",
"protein_id": "XP_005264629.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 954,
"cds_start": 2819,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264572.6"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2816_2817delAT",
"hgvs_p": "p.Tyr939fs",
"transcript": "XM_005264573.6",
"protein_id": "XP_005264630.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 953,
"cds_start": 2816,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264573.6"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2735_2736delAT",
"hgvs_p": "p.Tyr912fs",
"transcript": "XM_017005015.2",
"protein_id": "XP_016860504.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 926,
"cds_start": 2735,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005015.2"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2567_2568delAT",
"hgvs_p": "p.Tyr856fs",
"transcript": "XM_017005016.3",
"protein_id": "XP_016860505.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 870,
"cds_start": 2567,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005016.3"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2567_2568delAT",
"hgvs_p": "p.Tyr856fs",
"transcript": "XM_047445919.1",
"protein_id": "XP_047301875.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 870,
"cds_start": 2567,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445919.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2564_2565delAT",
"hgvs_p": "p.Tyr855fs",
"transcript": "XM_047445920.1",
"protein_id": "XP_047301876.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 869,
"cds_start": 2564,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445920.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2486_2487delAT",
"hgvs_p": "p.Tyr829fs",
"transcript": "XM_047445921.1",
"protein_id": "XP_047301877.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 843,
"cds_start": 2486,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445921.1"
},
{
"aa_ref": "Y",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2483_2484delAT",
"hgvs_p": "p.Tyr828fs",
"transcript": "XM_047445922.1",
"protein_id": "XP_047301878.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 842,
"cds_start": 2483,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445922.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.*1306_*1307delTA",
"hgvs_p": null,
"transcript": "ENST00000652107.1",
"protein_id": "ENSP00000498629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1261,
"cds_start": null,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652107.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.*40+1266_*40+1267delTA",
"hgvs_p": null,
"transcript": "NM_001406796.1",
"protein_id": "NP_001393725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1360,
"cds_start": null,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406796.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.*43+1263_*43+1264delTA",
"hgvs_p": null,
"transcript": "NM_001406809.1",
"protein_id": "NP_001393738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1360,
"cds_start": null,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406809.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.*40+1266_*40+1267delTA",
"hgvs_p": null,
"transcript": "ENST00000895687.1",
"protein_id": "ENSP00000565746.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1360,
"cds_start": null,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895687.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MSH6",
"gene_hgnc_id": 7329,
"hgvs_c": "c.*40+1266_*40+1267delTA",
"hgvs_p": null,
"transcript": "NM_001406805.1",
"protein_id": "NP_001393734.1",
"transcript_support_level": null,
"aa_start": null,
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{
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],
"clinvar_disease": "Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities,Neurodevelopmental disorder,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities|Neurodevelopmental disorder|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}