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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: 16-67230079-ATT-GTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67230079&ref=ATT&alt=GTC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "FHOD1",
"hgnc_id": 17905,
"hgvs_c": "c.3277_3279delAATinsGAC",
"hgvs_p": "p.Asn1093Asp",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001318202.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GTC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"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": "D",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "N",
"aa_start": 1067,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3813,
"cdna_start": 3272,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3199,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_013241.3",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3199_3201delAATinsGAC",
"hgvs_p": "p.Asn1067Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258201.9",
"protein_coding": true,
"protein_id": "NP_037373.2",
"strand": false,
"transcript": "NM_013241.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "N",
"aa_start": 1067,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3813,
"cdna_start": 3272,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3199,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000258201.9",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3199_3201delAATinsGAC",
"hgvs_p": "p.Asn1067Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013241.3",
"protein_coding": true,
"protein_id": "ENSP00000258201.4",
"strand": false,
"transcript": "ENST00000258201.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1258,
"aa_ref": "N",
"aa_start": 1161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4084,
"cdna_start": 3543,
"cds_end": null,
"cds_length": 3777,
"cds_start": 3481,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932114.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3481_3483delAATinsGAC",
"hgvs_p": "p.Asn1161Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602173.1",
"strand": false,
"transcript": "ENST00000932114.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1254,
"aa_ref": "N",
"aa_start": 1157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4112,
"cdna_start": 3576,
"cds_end": null,
"cds_length": 3765,
"cds_start": 3469,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910037.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3469_3471delAATinsGAC",
"hgvs_p": "p.Asn1157Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580096.1",
"strand": false,
"transcript": "ENST00000910037.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1199,
"aa_ref": "N",
"aa_start": 1102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3908,
"cdna_start": 3372,
"cds_end": null,
"cds_length": 3600,
"cds_start": 3304,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910044.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3304_3306delAATinsGAC",
"hgvs_p": "p.Asn1102Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580103.1",
"strand": false,
"transcript": "ENST00000910044.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "N",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3891,
"cdna_start": 3350,
"cds_end": null,
"cds_length": 3573,
"cds_start": 3277,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318202.2",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3277_3279delAATinsGAC",
"hgvs_p": "p.Asn1093Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305131.1",
"strand": false,
"transcript": "NM_001318202.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "N",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3891,
"cdna_start": 3350,
"cds_end": null,
"cds_length": 3573,
"cds_start": 3277,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910041.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3277_3279delAATinsGAC",
"hgvs_p": "p.Asn1093Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580100.1",
"strand": false,
"transcript": "ENST00000910041.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1182,
"aa_ref": "N",
"aa_start": 1085,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 3360,
"cds_end": null,
"cds_length": 3549,
"cds_start": 3253,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910039.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3253_3255delAATinsGAC",
"hgvs_p": "p.Asn1085Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580098.1",
"strand": false,
"transcript": "ENST00000910039.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "N",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3853,
"cdna_start": 3350,
"cds_end": null,
"cds_length": 3537,
"cds_start": 3277,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966997.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3277_3279delAATinsGAC",
"hgvs_p": "p.Asn1093Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637056.1",
"strand": false,
"transcript": "ENST00000966997.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1173,
"aa_ref": "N",
"aa_start": 1076,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3847,
"cdna_start": 3314,
"cds_end": null,
"cds_length": 3522,
"cds_start": 3226,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910040.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3226_3228delAATinsGAC",
"hgvs_p": "p.Asn1076Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580099.1",
"strand": false,
"transcript": "ENST00000910040.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "N",
"aa_start": 1066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3850,
"cdna_start": 3309,
"cds_end": null,
"cds_length": 3492,
"cds_start": 3196,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932112.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3196_3198delAATinsGAC",
"hgvs_p": "p.Asn1066Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602171.1",
"strand": false,
"transcript": "ENST00000932112.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1154,
"aa_ref": "N",
"aa_start": 1057,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3761,
"cdna_start": 3228,
"cds_end": null,
"cds_length": 3465,
"cds_start": 3169,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910045.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3169_3171delAATinsGAC",
"hgvs_p": "p.Asn1057Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580104.1",
"strand": false,
"transcript": "ENST00000910045.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1152,
"aa_ref": "N",
"aa_start": 1067,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": 3306,
"cds_end": null,
"cds_length": 3459,
"cds_start": 3199,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910038.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3199_3201delAATinsGAC",
"hgvs_p": "p.Asn1067Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580097.1",
"strand": false,
"transcript": "ENST00000910038.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1128,
"aa_ref": "N",
"aa_start": 1031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 3222,
"cds_end": null,
"cds_length": 3387,
"cds_start": 3091,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910036.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3091_3093delAATinsGAC",
"hgvs_p": "p.Asn1031Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580095.1",
"strand": false,
"transcript": "ENST00000910036.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1110,
"aa_ref": "N",
"aa_start": 1013,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": 3168,
"cds_end": null,
"cds_length": 3333,
"cds_start": 3037,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910035.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3037_3039delAATinsGAC",
"hgvs_p": "p.Asn1013Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580094.1",
"strand": false,
"transcript": "ENST00000910035.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "N",
"aa_start": 1006,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 3089,
"cds_end": null,
"cds_length": 3312,
"cds_start": 3016,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910042.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3016_3018delAATinsGAC",
"hgvs_p": "p.Asn1006Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580101.1",
"strand": false,
"transcript": "ENST00000910042.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "N",
"aa_start": 962,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3490,
"cdna_start": 2957,
"cds_end": null,
"cds_length": 3180,
"cds_start": 2884,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910043.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.2884_2886delAATinsGAC",
"hgvs_p": "p.Asn962Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580102.1",
"strand": false,
"transcript": "ENST00000910043.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1041,
"aa_ref": "N",
"aa_start": 944,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3438,
"cdna_start": 2899,
"cds_end": null,
"cds_length": 3126,
"cds_start": 2830,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966998.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.2830_2832delAATinsGAC",
"hgvs_p": "p.Asn944Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637057.1",
"strand": false,
"transcript": "ENST00000966998.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1029,
"aa_ref": "N",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 2886,
"cds_end": null,
"cds_length": 3090,
"cds_start": 2794,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932113.1",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.2794_2796delAATinsGAC",
"hgvs_p": "p.Asn932Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602172.1",
"strand": false,
"transcript": "ENST00000932113.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1180,
"aa_ref": "N",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4163,
"cdna_start": 3622,
"cds_end": null,
"cds_length": 3543,
"cds_start": 3247,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011523043.3",
"gene_hgnc_id": 17905,
"gene_symbol": "FHOD1",
"hgvs_c": "c.3247_3249delAATinsGAC",
"hgvs_p": "p.Asn1083Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521345.1",
"strand": false,
"transcript": "XM_011523043.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1154,
"aa_ref": "N",
"aa_start": 1057,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4083,
"cdna_start": 3542,
"cds_end": null,
"cds_length": 3465,
"cds_start": 3169,
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