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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: 20-34913132-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34913132&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ACSS2",
"hgnc_id": 15814,
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_001076552.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6,BP7",
"acmg_score": -4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "20",
"clinvar_classification": "Likely benign",
"clinvar_disease": "ACSS2-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5199999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 701,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2885,
"cdna_start": 445,
"cds_end": null,
"cds_length": 2106,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_018677.4",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360596.7",
"protein_coding": true,
"protein_id": "NP_061147.1",
"strand": true,
"transcript": "NM_018677.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 701,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2885,
"cdna_start": 445,
"cds_end": null,
"cds_length": 2106,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000360596.7",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018677.4",
"protein_coding": true,
"protein_id": "ENSP00000353804.2",
"strand": true,
"transcript": "ENST00000360596.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 146,
"aa_ref": "T",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 517,
"cdna_start": 461,
"cds_end": null,
"cds_length": 443,
"cds_start": 387,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000484354.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Thr129Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419167.1",
"strand": true,
"transcript": "ENST00000484354.1",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 724,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 506,
"cds_end": null,
"cds_length": 2175,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000871370.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541429.1",
"strand": true,
"transcript": "ENST00000871370.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 723,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 464,
"cds_end": null,
"cds_length": 2172,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000957800.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627859.1",
"strand": true,
"transcript": "ENST00000957800.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 720,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 477,
"cds_end": null,
"cds_length": 2163,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000957795.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627854.1",
"strand": true,
"transcript": "ENST00000957795.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 718,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": 464,
"cds_end": null,
"cds_length": 2157,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000871376.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541435.1",
"strand": true,
"transcript": "ENST00000871376.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 714,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 445,
"cds_end": null,
"cds_length": 2145,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001076552.3",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001070020.2",
"strand": true,
"transcript": "NM_001076552.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 714,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": 443,
"cds_end": null,
"cds_length": 2145,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000253382.5",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000253382.5",
"strand": true,
"transcript": "ENST00000253382.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 711,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": 510,
"cds_end": null,
"cds_length": 2136,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000871368.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541427.1",
"strand": true,
"transcript": "ENST00000871368.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 710,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 445,
"cds_end": null,
"cds_length": 2133,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000871379.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541438.1",
"strand": true,
"transcript": "ENST00000871379.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 707,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": 467,
"cds_end": null,
"cds_length": 2124,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000871374.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541433.1",
"strand": true,
"transcript": "ENST00000871374.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 700,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 477,
"cds_end": null,
"cds_length": 2103,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000957796.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627855.1",
"strand": true,
"transcript": "ENST00000957796.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 694,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2894,
"cdna_start": 477,
"cds_end": null,
"cds_length": 2085,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000957799.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627858.1",
"strand": true,
"transcript": "ENST00000957799.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2864,
"cdna_start": 485,
"cds_end": null,
"cds_length": 2049,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000957794.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627853.1",
"strand": true,
"transcript": "ENST00000957794.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 682,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": 480,
"cds_end": null,
"cds_length": 2049,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000957797.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627856.1",
"strand": true,
"transcript": "ENST00000957797.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 674,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2826,
"cdna_start": 467,
"cds_end": null,
"cds_length": 2025,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000871373.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541432.1",
"strand": true,
"transcript": "ENST00000871373.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 674,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 461,
"cds_end": null,
"cds_length": 2025,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000871378.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
"hgvs_p": "p.Thr137Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541437.1",
"strand": true,
"transcript": "ENST00000871378.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 670,
"aa_ref": "T",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2790,
"cdna_start": 311,
"cds_end": null,
"cds_length": 2013,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000871380.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.279A>G",
"hgvs_p": "p.Thr93Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541439.1",
"strand": true,
"transcript": "ENST00000871380.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 657,
"aa_ref": "T",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 345,
"cds_end": null,
"cds_length": 1974,
"cds_start": 279,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000871372.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.279A>G",
"hgvs_p": "p.Thr93Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541431.1",
"strand": true,
"transcript": "ENST00000871372.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 655,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 485,
"cds_end": null,
"cds_length": 1968,
"cds_start": 411,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000871371.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.411A>G",
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