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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: 14-104714799-CGG-TTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=104714799&ref=CGG&alt=TTA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "INF2",
"hgnc_id": 23791,
"hgvs_c": "c.3637_3639delCGGinsTTA",
"hgvs_p": "p.Arg1213Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001426862.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"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": "L",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "R",
"aa_start": 1213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7623,
"cdna_start": 3768,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3637,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022489.4",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.3637_3639delCGGinsTTA",
"hgvs_p": "p.Arg1213Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392634.9",
"protein_coding": true,
"protein_id": "NP_071934.3",
"strand": true,
"transcript": "NM_022489.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "R",
"aa_start": 1213,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7623,
"cdna_start": 3768,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3637,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392634.9",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.3637_3639delCGGinsTTA",
"hgvs_p": "p.Arg1213Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022489.4",
"protein_coding": true,
"protein_id": "ENSP00000376410.4",
"strand": true,
"transcript": "ENST00000392634.9",
"transcript_support_level": 5
},
{
"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": 4556,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000617571.5",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "n.*486_*488delCGGinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483829.2",
"strand": true,
"transcript": "ENST00000617571.5",
"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": 4556,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000617571.5",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "n.*486_*488delCGGinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483829.2",
"strand": true,
"transcript": "ENST00000617571.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1281,
"aa_ref": "R",
"aa_start": 1245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7732,
"cdna_start": 3877,
"cds_end": null,
"cds_length": 3846,
"cds_start": 3733,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675207.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.3733_3735delCGGinsTTA",
"hgvs_p": "p.Arg1245Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502644.1",
"strand": true,
"transcript": "ENST00000675207.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1268,
"aa_ref": "R",
"aa_start": 1213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7650,
"cdna_start": 3768,
"cds_end": null,
"cds_length": 3807,
"cds_start": 3637,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001426862.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.3637_3639delCGGinsTTA",
"hgvs_p": "p.Arg1213Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001413791.1",
"strand": true,
"transcript": "NM_001426862.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1255,
"aa_ref": "R",
"aa_start": 1219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": 3655,
"cds_end": null,
"cds_length": 3768,
"cds_start": 3655,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675980.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.3655_3657delCGGinsTTA",
"hgvs_p": "p.Arg1219Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502520.1",
"strand": true,
"transcript": "ENST00000675980.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1250,
"aa_ref": "R",
"aa_start": 1213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 3637,
"cds_end": null,
"cds_length": 3753,
"cds_start": 3637,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675481.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.3637_3639delCGGinsTTA",
"hgvs_p": "p.Arg1213Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502723.1",
"strand": true,
"transcript": "ENST00000675481.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "R",
"aa_start": 1213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7951,
"cdna_start": 4096,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3637,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001426863.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.3637_3639delCGGinsTTA",
"hgvs_p": "p.Arg1213Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001413792.1",
"strand": true,
"transcript": "NM_001426863.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "R",
"aa_start": 1213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7761,
"cdna_start": 3906,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3637,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001426864.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.3637_3639delCGGinsTTA",
"hgvs_p": "p.Arg1213Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001413793.1",
"strand": true,
"transcript": "NM_001426864.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "R",
"aa_start": 1213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7967,
"cdna_start": 4115,
"cds_end": null,
"cds_length": 3750,
"cds_start": 3637,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896057.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.3637_3639delCGGinsTTA",
"hgvs_p": "p.Arg1213Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566116.1",
"strand": true,
"transcript": "ENST00000896057.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1241,
"aa_ref": "R",
"aa_start": 1205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": 3613,
"cds_end": null,
"cds_length": 3726,
"cds_start": 3613,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675329.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.3613_3615delCGGinsTTA",
"hgvs_p": "p.Arg1205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502287.1",
"strand": true,
"transcript": "ENST00000675329.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "R",
"aa_start": 1213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7566,
"cdna_start": 3768,
"cds_end": null,
"cds_length": 3723,
"cds_start": 3637,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001031714.4",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.3637_3639delCGGinsTTA",
"hgvs_p": "p.Arg1213Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001026884.3",
"strand": true,
"transcript": "NM_001031714.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "R",
"aa_start": 1213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7894,
"cdna_start": 4096,
"cds_end": null,
"cds_length": 3723,
"cds_start": 3637,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001426865.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.3637_3639delCGGinsTTA",
"hgvs_p": "p.Arg1213Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001413794.1",
"strand": true,
"transcript": "NM_001426865.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "R",
"aa_start": 1213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7578,
"cdna_start": 3780,
"cds_end": null,
"cds_length": 3723,
"cds_start": 3637,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000330634.11",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.3637_3639delCGGinsTTA",
"hgvs_p": "p.Arg1213Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376406.3",
"strand": true,
"transcript": "ENST00000330634.11",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1222,
"aa_ref": "R",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7411,
"cdna_start": 3556,
"cds_end": null,
"cds_length": 3669,
"cds_start": 3556,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675638.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.3556_3558delCGGinsTTA",
"hgvs_p": "p.Arg1186Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501647.1",
"strand": true,
"transcript": "ENST00000675638.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 980,
"aa_ref": "R",
"aa_start": 963,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2944,
"cdna_start": 2887,
"cds_end": null,
"cds_length": 2944,
"cds_start": 2887,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674991.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.2887_2889delCGGinsTTA",
"hgvs_p": "p.Arg963Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502004.1",
"strand": true,
"transcript": "ENST00000674991.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 1675,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1675,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674631.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "c.1675_1677delCGGinsTTA",
"hgvs_p": "p.Arg559Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502830.1",
"strand": true,
"transcript": "ENST00000674631.1",
"transcript_support_level": null
},
{
"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": 3050,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000252527.8",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "n.2041_2043delCGGinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000252527.8",
"strand": true,
"transcript": "ENST00000252527.8",
"transcript_support_level": 2
},
{
"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": 3689,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000674520.1",
"gene_hgnc_id": 23791,
"gene_symbol": "INF2",
"hgvs_c": "n.*995_*997delCGGinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502593.1",
"strand": true,
"transcript": "ENST00000674520.1",
"transcript_support_level": null
},
{
"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": 3755,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
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