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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: 9-130622807-CCA-ACC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=130622807&ref=CCA&alt=ACC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "FUBP3",
"hgnc_id": 4005,
"hgvs_c": "c.871_873delCCAinsACC",
"hgvs_p": "p.Pro291Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_003934.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"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": "T",
"aa_end": null,
"aa_length": 572,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1719,
"cds_start": 871,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003934.2",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.871_873delCCAinsACC",
"hgvs_p": "p.Pro291Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000319725.10",
"protein_coding": true,
"protein_id": "NP_003925.1",
"strand": true,
"transcript": "NM_003934.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 572,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1719,
"cds_start": 871,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000319725.10",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.871_873delCCAinsACC",
"hgvs_p": "p.Pro291Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003934.2",
"protein_coding": true,
"protein_id": "ENSP00000318177.9",
"strand": true,
"transcript": "ENST00000319725.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 603,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3231,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 1812,
"cds_start": 964,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964145.1",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.964_966delCCAinsACC",
"hgvs_p": "p.Pro322Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634204.1",
"strand": true,
"transcript": "ENST00000964145.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "P",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1761,
"cds_start": 913,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936135.1",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.913_915delCCAinsACC",
"hgvs_p": "p.Pro305Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606194.1",
"strand": true,
"transcript": "ENST00000936135.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 581,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3140,
"cdna_start": 937,
"cds_end": null,
"cds_length": 1746,
"cds_start": 871,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936137.1",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.871_873delCCAinsACC",
"hgvs_p": "p.Pro291Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606196.1",
"strand": true,
"transcript": "ENST00000936137.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 571,
"aa_ref": "P",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3164,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1716,
"cds_start": 868,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863495.1",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.868_870delCCAinsACC",
"hgvs_p": "p.Pro290Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533554.1",
"strand": true,
"transcript": "ENST00000863495.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 561,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3109,
"cdna_start": 964,
"cds_end": null,
"cds_length": 1686,
"cds_start": 871,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936136.1",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.871_873delCCAinsACC",
"hgvs_p": "p.Pro291Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606195.1",
"strand": true,
"transcript": "ENST00000936136.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 553,
"aa_ref": "P",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3098,
"cdna_start": 920,
"cds_end": null,
"cds_length": 1662,
"cds_start": 814,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964142.1",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.814_816delCCAinsACC",
"hgvs_p": "p.Pro272Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634201.1",
"strand": true,
"transcript": "ENST00000964142.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 552,
"aa_ref": "P",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3058,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1659,
"cds_start": 811,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863499.1",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.811_813delCCAinsACC",
"hgvs_p": "p.Pro271Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533558.1",
"strand": true,
"transcript": "ENST00000863499.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 548,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3100,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1647,
"cds_start": 871,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863494.1",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.871_873delCCAinsACC",
"hgvs_p": "p.Pro291Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533553.1",
"strand": true,
"transcript": "ENST00000863494.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 547,
"aa_ref": "P",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1644,
"cds_start": 868,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863497.1",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.868_870delCCAinsACC",
"hgvs_p": "p.Pro290Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533556.1",
"strand": true,
"transcript": "ENST00000863497.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 547,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": 968,
"cds_end": null,
"cds_length": 1644,
"cds_start": 871,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964144.1",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.871_873delCCAinsACC",
"hgvs_p": "p.Pro291Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634203.1",
"strand": true,
"transcript": "ENST00000964144.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 545,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3059,
"cdna_start": 962,
"cds_end": null,
"cds_length": 1638,
"cds_start": 871,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863496.1",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.871_873delCCAinsACC",
"hgvs_p": "p.Pro291Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533555.1",
"strand": true,
"transcript": "ENST00000863496.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 529,
"aa_ref": "P",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 912,
"cds_end": null,
"cds_length": 1590,
"cds_start": 814,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964143.1",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.814_816delCCAinsACC",
"hgvs_p": "p.Pro272Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634202.1",
"strand": true,
"transcript": "ENST00000964143.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 521,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1566,
"cds_start": 871,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936134.1",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.871_873delCCAinsACC",
"hgvs_p": "p.Pro291Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606193.1",
"strand": true,
"transcript": "ENST00000936134.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 417,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1254,
"cds_start": 871,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863498.1",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.871_873delCCAinsACC",
"hgvs_p": "p.Pro291Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533557.1",
"strand": true,
"transcript": "ENST00000863498.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 378,
"aa_ref": "P",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 347,
"cds_end": null,
"cds_length": 1137,
"cds_start": 289,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964146.1",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.289_291delCCAinsACC",
"hgvs_p": "p.Pro97Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634205.1",
"strand": true,
"transcript": "ENST00000964146.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 548,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1647,
"cds_start": 871,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005272232.3",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.871_873delCCAinsACC",
"hgvs_p": "p.Pro291Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005272289.1",
"strand": true,
"transcript": "XM_005272232.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 514,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2629,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1545,
"cds_start": 871,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011519172.4",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "c.871_873delCCAinsACC",
"hgvs_p": "p.Pro291Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517474.1",
"strand": true,
"transcript": "XM_011519172.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 840,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000487406.2",
"gene_hgnc_id": 4005,
"gene_symbol": "FUBP3",
"hgvs_c": "n.145_147delCCAinsACC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000487406.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
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"cdna_end": null,
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]
}