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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: 20-34920785-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34920785&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ACSS2",
"hgnc_id": 15814,
"hgvs_c": "c.1182+76G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001076552.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 921888,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 701,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2885,
"cdna_start": null,
"cds_end": null,
"cds_length": 2106,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_018677.4",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1143+76G>T",
"hgvs_p": null,
"intron_rank": 9,
"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": null,
"aa_end": null,
"aa_length": 701,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2885,
"cdna_start": null,
"cds_end": null,
"cds_length": 2106,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000360596.7",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1143+76G>T",
"hgvs_p": null,
"intron_rank": 9,
"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": null,
"aa_end": null,
"aa_length": 724,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": null,
"cds_end": null,
"cds_length": 2175,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871370.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1182+76G>T",
"hgvs_p": null,
"intron_rank": 10,
"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": null,
"aa_end": null,
"aa_length": 723,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": null,
"cds_end": null,
"cds_length": 2172,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957800.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1209+76G>T",
"hgvs_p": null,
"intron_rank": 10,
"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": null,
"aa_end": null,
"aa_length": 720,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": null,
"cds_end": null,
"cds_length": 2163,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957795.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1182+76G>T",
"hgvs_p": null,
"intron_rank": 10,
"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": null,
"aa_end": null,
"aa_length": 718,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": null,
"cds_end": null,
"cds_length": 2157,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871376.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1194+25G>T",
"hgvs_p": null,
"intron_rank": 9,
"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": null,
"aa_end": null,
"aa_length": 714,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": null,
"cds_end": null,
"cds_length": 2145,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001076552.3",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1182+76G>T",
"hgvs_p": null,
"intron_rank": 10,
"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": null,
"aa_end": null,
"aa_length": 714,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": null,
"cds_end": null,
"cds_length": 2145,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000253382.5",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1182+76G>T",
"hgvs_p": null,
"intron_rank": 10,
"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": null,
"aa_end": null,
"aa_length": 711,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": null,
"cds_end": null,
"cds_length": 2136,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871368.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1143+76G>T",
"hgvs_p": null,
"intron_rank": 9,
"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": null,
"aa_end": null,
"aa_length": 710,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": null,
"cds_end": null,
"cds_length": 2133,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871379.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1170+76G>T",
"hgvs_p": null,
"intron_rank": 9,
"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
},
{
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"aa_length": 707,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2124,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871374.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1143+76G>T",
"hgvs_p": null,
"intron_rank": 9,
"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
},
{
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"aa_length": 700,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": null,
"cds_end": null,
"cds_length": 2103,
"cds_start": null,
"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
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"feature": "ENST00000957796.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1140+76G>T",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627855.1",
"strand": true,
"transcript": "ENST00000957796.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000957799.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1143+76G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627858.1",
"strand": true,
"transcript": "ENST00000957799.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2864,
"cdna_start": null,
"cds_end": null,
"cds_length": 2049,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957794.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1056+76G>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627853.1",
"strand": true,
"transcript": "ENST00000957794.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000957797.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1143+76G>T",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627856.1",
"strand": true,
"transcript": "ENST00000957797.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2025,
"cds_start": null,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871373.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1143+76G>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541432.1",
"strand": true,
"transcript": "ENST00000871373.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": null,
"cds_end": null,
"cds_length": 2025,
"cds_start": null,
"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871378.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1143+76G>T",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000541437.1",
"strand": true,
"transcript": "ENST00000871378.1",
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},
{
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"cdna_end": null,
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"cdna_start": null,
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"cds_length": 2013,
"cds_start": null,
"consequences": [
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],
"exon_count": 19,
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"feature": "ENST00000871380.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1050+76G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000541439.1",
"strand": true,
"transcript": "ENST00000871380.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 18,
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"feature": "ENST00000871372.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1011+76G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000541431.1",
"strand": true,
"transcript": "ENST00000871372.1",
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},
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"cds_length": 1968,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
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"feature": "ENST00000871371.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1182+76G>T",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541430.1",
"strand": true,
"transcript": "ENST00000871371.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": null,
"cds_end": null,
"cds_length": 1959,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918464.1",
"gene_hgnc_id": 15814,
"gene_symbol": "ACSS2",
"hgvs_c": "c.1143+76G>T",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588523.1",
"strand": true,
"transcript": "ENST00000918464.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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