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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: 10-95611420-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95611420&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ALDH18A1",
"hgnc_id": 9722,
"hgvs_c": "c.1946A>C",
"hgvs_p": "p.Lys649Thr",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_002860.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1753,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25235554575920105,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 795,
"aa_ref": "K",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1946,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_002860.4",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1946A>C",
"hgvs_p": "p.Lys649Thr",
"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": "T",
"aa_end": null,
"aa_length": 795,
"aa_ref": "K",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1946,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000371224.7",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1946A>C",
"hgvs_p": "p.Lys649Thr",
"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": "T",
"aa_end": null,
"aa_length": 793,
"aa_ref": "K",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 2078,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1940,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000371221.3",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1940A>C",
"hgvs_p": "p.Lys647Thr",
"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": "T",
"aa_end": null,
"aa_length": 795,
"aa_ref": "K",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3503,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1946,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001323413.2",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1946A>C",
"hgvs_p": "p.Lys649Thr",
"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": "T",
"aa_end": null,
"aa_length": 795,
"aa_ref": "K",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3660,
"cdna_start": 2397,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1946,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001323414.2",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1946A>C",
"hgvs_p": "p.Lys649Thr",
"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": "T",
"aa_end": null,
"aa_length": 795,
"aa_ref": "K",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3313,
"cdna_start": 2056,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1946,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000879381.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1946A>C",
"hgvs_p": "p.Lys649Thr",
"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": "T",
"aa_end": null,
"aa_length": 795,
"aa_ref": "K",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3321,
"cdna_start": 2054,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1946,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000879382.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1946A>C",
"hgvs_p": "p.Lys649Thr",
"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": "T",
"aa_end": null,
"aa_length": 795,
"aa_ref": "K",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 2210,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1946,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000931927.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1946A>C",
"hgvs_p": "p.Lys649Thr",
"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": "T",
"aa_end": null,
"aa_length": 795,
"aa_ref": "K",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3431,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1946,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000931930.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1946A>C",
"hgvs_p": "p.Lys649Thr",
"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": "T",
"aa_end": null,
"aa_length": 795,
"aa_ref": "K",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3388,
"cdna_start": 2129,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1946,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000931933.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1946A>C",
"hgvs_p": "p.Lys649Thr",
"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": "T",
"aa_end": null,
"aa_length": 793,
"aa_ref": "K",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3346,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1940,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001017423.2",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1940A>C",
"hgvs_p": "p.Lys647Thr",
"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": "T",
"aa_end": null,
"aa_length": 793,
"aa_ref": "K",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3497,
"cdna_start": 2234,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1940,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001323415.2",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1940A>C",
"hgvs_p": "p.Lys647Thr",
"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": "T",
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"aa_length": 793,
"aa_ref": "K",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3351,
"cdna_start": 2088,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1940,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000879374.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1940A>C",
"hgvs_p": "p.Lys647Thr",
"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": "T",
"aa_end": null,
"aa_length": 793,
"aa_ref": "K",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3382,
"cdna_start": 2119,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1940,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000879379.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1940A>C",
"hgvs_p": "p.Lys647Thr",
"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": "T",
"aa_end": null,
"aa_length": 793,
"aa_ref": "K",
"aa_start": 647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3509,
"cdna_start": 2246,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1940,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000879380.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1940A>C",
"hgvs_p": "p.Lys647Thr",
"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": "T",
"aa_end": null,
"aa_length": 786,
"aa_ref": "K",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3276,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1919,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000879377.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1919A>C",
"hgvs_p": "p.Lys640Thr",
"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": "T",
"aa_end": null,
"aa_length": 783,
"aa_ref": "K",
"aa_start": 637,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3332,
"cdna_start": 2069,
"cds_end": null,
"cds_length": 2352,
"cds_start": 1910,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000931931.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1910A>C",
"hgvs_p": "p.Lys637Thr",
"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": "T",
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"aa_length": 766,
"aa_ref": "K",
"aa_start": 620,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3276,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1859,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000879375.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1859A>C",
"hgvs_p": "p.Lys620Thr",
"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": "T",
"aa_end": null,
"aa_length": 760,
"aa_ref": "K",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3247,
"cdna_start": 1984,
"cds_end": null,
"cds_length": 2283,
"cds_start": 1841,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001323417.2",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1841A>C",
"hgvs_p": "p.Lys614Thr",
"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": "T",
"aa_end": null,
"aa_length": 760,
"aa_ref": "K",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3187,
"cdna_start": 1924,
"cds_end": null,
"cds_length": 2283,
"cds_start": 1841,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000931934.1",
"gene_hgnc_id": 9722,
"gene_symbol": "ALDH18A1",
"hgvs_c": "c.1841A>C",
"hgvs_p": "p.Lys614Thr",
"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": "T",
"aa_end": null,
"aa_length": 749,
"aa_ref": "K",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3158,
"cdna_start": 1899,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1808,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000879378.1",
"gene_hgnc_id": 9722,
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