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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: 10-95606813-ACT-TTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95606813&ref=ACT&alt=TTA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ALDH18A1",
"hgnc_id": 9722,
"hgvs_c": "c.2335_2337delAGTinsTAA",
"hgvs_p": "p.Ser779*",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_002860.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1",
"acmg_score": 8,
"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": "10",
"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": "*",
"aa_end": null,
"aa_length": 795,
"aa_ref": "S",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 2480,
"cds_end": null,
"cds_length": 2388,
"cds_start": 2335,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002860.4",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2335_2337delAGTinsTAA",
"hgvs_p": "p.Ser779*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371224.7",
"protein_coding": true,
"protein_id": "NP_002851.2",
"strand": false,
"transcript": "NM_002860.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 795,
"aa_ref": "S",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 2480,
"cds_end": null,
"cds_length": 2388,
"cds_start": 2335,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000371224.7",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2335_2337delAGTinsTAA",
"hgvs_p": "p.Ser779*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002860.4",
"protein_coding": true,
"protein_id": "ENSP00000360268.2",
"strand": false,
"transcript": "ENST00000371224.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 793,
"aa_ref": "S",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 2469,
"cds_end": null,
"cds_length": 2382,
"cds_start": 2329,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000371221.3",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2329_2331delAGTinsTAA",
"hgvs_p": "p.Ser777*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360265.3",
"strand": false,
"transcript": "ENST00000371221.3",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 795,
"aa_ref": "S",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3503,
"cdna_start": 2631,
"cds_end": null,
"cds_length": 2388,
"cds_start": 2335,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323413.2",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2335_2337delAGTinsTAA",
"hgvs_p": "p.Ser779*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310342.1",
"strand": false,
"transcript": "NM_001323413.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 795,
"aa_ref": "S",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3660,
"cdna_start": 2788,
"cds_end": null,
"cds_length": 2388,
"cds_start": 2335,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323414.2",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2335_2337delAGTinsTAA",
"hgvs_p": "p.Ser779*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310343.1",
"strand": false,
"transcript": "NM_001323414.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 795,
"aa_ref": "S",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3313,
"cdna_start": 2447,
"cds_end": null,
"cds_length": 2388,
"cds_start": 2335,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879381.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2335_2337delAGTinsTAA",
"hgvs_p": "p.Ser779*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549440.1",
"strand": false,
"transcript": "ENST00000879381.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 795,
"aa_ref": "S",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3321,
"cdna_start": 2445,
"cds_end": null,
"cds_length": 2388,
"cds_start": 2335,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879382.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2335_2337delAGTinsTAA",
"hgvs_p": "p.Ser779*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549441.1",
"strand": false,
"transcript": "ENST00000879382.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 795,
"aa_ref": "S",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 2601,
"cds_end": null,
"cds_length": 2388,
"cds_start": 2335,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931927.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2335_2337delAGTinsTAA",
"hgvs_p": "p.Ser779*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601986.1",
"strand": false,
"transcript": "ENST00000931927.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 795,
"aa_ref": "S",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3431,
"cdna_start": 2566,
"cds_end": null,
"cds_length": 2388,
"cds_start": 2335,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931930.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2335_2337delAGTinsTAA",
"hgvs_p": "p.Ser779*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601989.1",
"strand": false,
"transcript": "ENST00000931930.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 795,
"aa_ref": "S",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3388,
"cdna_start": 2520,
"cds_end": null,
"cds_length": 2388,
"cds_start": 2335,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931933.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2335_2337delAGTinsTAA",
"hgvs_p": "p.Ser779*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601992.1",
"strand": false,
"transcript": "ENST00000931933.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 793,
"aa_ref": "S",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3346,
"cdna_start": 2474,
"cds_end": null,
"cds_length": 2382,
"cds_start": 2329,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001017423.2",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2329_2331delAGTinsTAA",
"hgvs_p": "p.Ser777*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001017423.1",
"strand": false,
"transcript": "NM_001017423.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 793,
"aa_ref": "S",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3497,
"cdna_start": 2625,
"cds_end": null,
"cds_length": 2382,
"cds_start": 2329,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323415.2",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2329_2331delAGTinsTAA",
"hgvs_p": "p.Ser777*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310344.1",
"strand": false,
"transcript": "NM_001323415.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 793,
"aa_ref": "S",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3351,
"cdna_start": 2479,
"cds_end": null,
"cds_length": 2382,
"cds_start": 2329,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879374.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2329_2331delAGTinsTAA",
"hgvs_p": "p.Ser777*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549433.1",
"strand": false,
"transcript": "ENST00000879374.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 793,
"aa_ref": "S",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2382,
"cds_start": 2329,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879379.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2329_2331delAGTinsTAA",
"hgvs_p": "p.Ser777*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549438.1",
"strand": false,
"transcript": "ENST00000879379.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 793,
"aa_ref": "S",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3509,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2382,
"cds_start": 2329,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879380.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2329_2331delAGTinsTAA",
"hgvs_p": "p.Ser777*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549439.1",
"strand": false,
"transcript": "ENST00000879380.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 786,
"aa_ref": "S",
"aa_start": 770,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3276,
"cdna_start": 2404,
"cds_end": null,
"cds_length": 2361,
"cds_start": 2308,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879377.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2308_2310delAGTinsTAA",
"hgvs_p": "p.Ser770*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549436.1",
"strand": false,
"transcript": "ENST00000879377.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 783,
"aa_ref": "S",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3332,
"cdna_start": 2460,
"cds_end": null,
"cds_length": 2352,
"cds_start": 2299,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931931.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2299_2301delAGTinsTAA",
"hgvs_p": "p.Ser767*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601990.1",
"strand": false,
"transcript": "ENST00000931931.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 766,
"aa_ref": "S",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3276,
"cdna_start": 2404,
"cds_end": null,
"cds_length": 2301,
"cds_start": 2248,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879375.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2248_2250delAGTinsTAA",
"hgvs_p": "p.Ser750*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549434.1",
"strand": false,
"transcript": "ENST00000879375.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 760,
"aa_ref": "S",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3247,
"cdna_start": 2375,
"cds_end": null,
"cds_length": 2283,
"cds_start": 2230,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323417.2",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2230_2232delAGTinsTAA",
"hgvs_p": "p.Ser744*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310346.1",
"strand": false,
"transcript": "NM_001323417.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 760,
"aa_ref": "S",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3187,
"cdna_start": 2315,
"cds_end": null,
"cds_length": 2283,
"cds_start": 2230,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931934.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.2230_2232delAGTinsTAA",
"hgvs_p": "p.Ser744*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601993.1",
"strand": false,
"transcript": "ENST00000931934.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 749,
"aa_ref": "S",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 2290,
"cds_end": null,
"cds_length": 2250,
"cds_start": 2197,
"consequences": [
"stop_gained"
],
"exon_count": 17,
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