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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: 11-44067770-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=44067770&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACCS",
"hgnc_id": 23989,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_032592.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 37,
"alphamissense_prediction": null,
"alphamissense_score": 0.0657,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.008385986089706421,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 501,
"aa_ref": "R",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2383,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1506,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_032592.4",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263776.9",
"protein_coding": true,
"protein_id": "NP_115981.1",
"strand": true,
"transcript": "NM_032592.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 501,
"aa_ref": "R",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2383,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1506,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000263776.9",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032592.4",
"protein_coding": true,
"protein_id": "ENSP00000263776.8",
"strand": true,
"transcript": "ENST00000263776.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 960,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000527603.5",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "n.321G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000527603.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 501,
"aa_ref": "R",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": 196,
"cds_end": null,
"cds_length": 1506,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001127219.2",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120691.1",
"strand": true,
"transcript": "NM_001127219.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 501,
"aa_ref": "R",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1954,
"cdna_start": 364,
"cds_end": null,
"cds_length": 1506,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000894384.1",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564443.1",
"strand": true,
"transcript": "ENST00000894384.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 501,
"aa_ref": "R",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 240,
"cds_end": null,
"cds_length": 1506,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000964372.1",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634431.1",
"strand": true,
"transcript": "ENST00000964372.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2111,
"cdna_start": 524,
"cds_end": null,
"cds_length": 1503,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000894383.1",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564442.1",
"strand": true,
"transcript": "ENST00000894383.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 481,
"aa_ref": "R",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2275,
"cdna_start": 527,
"cds_end": null,
"cds_length": 1446,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000894381.1",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564440.1",
"strand": true,
"transcript": "ENST00000894381.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": 322,
"cds_end": null,
"cds_length": 1428,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000964373.1",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634432.1",
"strand": true,
"transcript": "ENST00000964373.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 454,
"aa_ref": "R",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1365,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000894382.1",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564441.1",
"strand": true,
"transcript": "ENST00000894382.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 138,
"aa_ref": "R",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 563,
"cdna_start": 287,
"cds_end": null,
"cds_length": 419,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000524990.5",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434156.1",
"strand": true,
"transcript": "ENST00000524990.5",
"transcript_support_level": 4
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 76,
"aa_ref": "R",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 400,
"cdna_start": 311,
"cds_end": null,
"cds_length": 232,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000533404.1",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435919.1",
"strand": true,
"transcript": "ENST00000533404.1",
"transcript_support_level": 3
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 1809,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_005253170.4",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Arg149His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005253227.2",
"strand": true,
"transcript": "XM_005253170.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 576,
"aa_ref": "R",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 1731,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011520406.3",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Arg149His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518708.1",
"strand": true,
"transcript": "XM_011520406.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1428,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_024448718.2",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304486.1",
"strand": true,
"transcript": "XM_024448718.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": 196,
"cds_end": null,
"cds_length": 1428,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_024448719.2",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304487.1",
"strand": true,
"transcript": "XM_024448719.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 326,
"aa_ref": "R",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5157,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 981,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047427717.1",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Arg149His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283673.1",
"strand": true,
"transcript": "XM_047427717.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 303,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 912,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017018421.2",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Arg149His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873910.1",
"strand": true,
"transcript": "XM_017018421.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 303,
"aa_ref": "R",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5113,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 912,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047427719.1",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "c.446G>A",
"hgvs_p": "p.Arg149His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283675.1",
"strand": true,
"transcript": "XM_047427719.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 907,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000526577.5",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "n.309G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000526577.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 884,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000533208.5",
"gene_hgnc_id": 23989,
"gene_symbol": "ACCS",
"hgvs_c": "n.231G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000533208.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
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