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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: 21-46302071-ATGG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46302071&ref=ATGG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP3",
"BS1",
"BS2"
],
"effects": [
"disruptive_inframe_deletion"
],
"gene_symbol": "C21orf58",
"hgnc_id": 1300,
"hgvs_c": "c.894_896delCCA",
"hgvs_p": "p.His299del",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_058180.5",
"verdict": "Benign"
},
{
"benign_score": 8,
"criteria": [
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "YBEY",
"hgnc_id": 1299,
"hgvs_c": "c.547+2394_547+2396delGTG",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -8,
"transcript": "XM_011529633.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BS1,BS2",
"acmg_score": -9,
"allele_count_reference_population": 2375,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "21",
"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": "H",
"aa_end": null,
"aa_length": 322,
"aa_ref": "HH",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 969,
"cds_start": 894,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_058180.5",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.894_896delCCA",
"hgvs_p": "p.His299del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000291691.12",
"protein_coding": true,
"protein_id": "NP_478060.2",
"strand": false,
"transcript": "NM_058180.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 322,
"aa_ref": "HH",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 969,
"cds_start": 894,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000291691.12",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.894_896delCCA",
"hgvs_p": "p.His299del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_058180.5",
"protein_coding": true,
"protein_id": "ENSP00000291691.8",
"strand": false,
"transcript": "ENST00000291691.12",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 284,
"aa_ref": "HH",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1072,
"cdna_start": 782,
"cds_end": null,
"cds_length": 855,
"cds_start": 780,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000417060.5",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.780_782delCCA",
"hgvs_p": "p.His261del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402356.1",
"strand": false,
"transcript": "ENST00000417060.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 216,
"aa_ref": "HH",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2941,
"cdna_start": 2282,
"cds_end": null,
"cds_length": 651,
"cds_start": 576,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000397682.7",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.576_578delCCA",
"hgvs_p": "p.His193del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380798.3",
"strand": false,
"transcript": "ENST00000397682.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 321,
"aa_ref": "HH",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 966,
"cds_start": 891,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894108.1",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.891_893delCCA",
"hgvs_p": "p.His298del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564167.1",
"strand": false,
"transcript": "ENST00000894108.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 321,
"aa_ref": "HH",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": 2615,
"cds_end": null,
"cds_length": 966,
"cds_start": 891,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000956568.1",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.891_893delCCA",
"hgvs_p": "p.His298del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626627.1",
"strand": false,
"transcript": "ENST00000956568.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 239,
"aa_ref": "HH",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 720,
"cds_start": 645,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000851029.1",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.645_647delCCA",
"hgvs_p": "p.His216del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521098.1",
"strand": false,
"transcript": "ENST00000851029.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 216,
"aa_ref": "HH",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 651,
"cds_start": 576,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001286462.2",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.576_578delCCA",
"hgvs_p": "p.His193del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273391.1",
"strand": false,
"transcript": "NM_001286462.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 216,
"aa_ref": "HH",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1987,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 651,
"cds_start": 576,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001286463.1",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.576_578delCCA",
"hgvs_p": "p.His193del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273392.1",
"strand": false,
"transcript": "NM_001286463.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 216,
"aa_ref": "HH",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2936,
"cdna_start": 2277,
"cds_end": null,
"cds_length": 651,
"cds_start": 576,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001286476.2",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.576_578delCCA",
"hgvs_p": "p.His193del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273405.1",
"strand": false,
"transcript": "NM_001286476.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 216,
"aa_ref": "HH",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2641,
"cdna_start": 1699,
"cds_end": null,
"cds_length": 651,
"cds_start": 576,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001286477.2",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.576_578delCCA",
"hgvs_p": "p.His193del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273406.1",
"strand": false,
"transcript": "NM_001286477.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 216,
"aa_ref": "HH",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2900,
"cdna_start": 1962,
"cds_end": null,
"cds_length": 651,
"cds_start": 576,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000397679.5",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.576_578delCCA",
"hgvs_p": "p.His193del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380796.1",
"strand": false,
"transcript": "ENST00000397679.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 216,
"aa_ref": "HH",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 651,
"cds_start": 576,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000397680.5",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.576_578delCCA",
"hgvs_p": "p.His193del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380797.1",
"strand": false,
"transcript": "ENST00000397680.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 216,
"aa_ref": "HH",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 651,
"cds_start": 576,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000397683.5",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.576_578delCCA",
"hgvs_p": "p.His193del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380799.1",
"strand": false,
"transcript": "ENST00000397683.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 322,
"aa_ref": "HH",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2687,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 969,
"cds_start": 894,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005261148.6",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.894_896delCCA",
"hgvs_p": "p.His299del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005261205.1",
"strand": false,
"transcript": "XM_005261148.6",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 322,
"aa_ref": "HH",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2468,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 969,
"cds_start": 894,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011529619.4",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.894_896delCCA",
"hgvs_p": "p.His299del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527921.1",
"strand": false,
"transcript": "XM_011529619.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 322,
"aa_ref": "HH",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 969,
"cds_start": 894,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011529620.4",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.894_896delCCA",
"hgvs_p": "p.His299del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527922.1",
"strand": false,
"transcript": "XM_011529620.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 321,
"aa_ref": "HH",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2967,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 966,
"cds_start": 891,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047440892.1",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.891_893delCCA",
"hgvs_p": "p.His298del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296848.1",
"strand": false,
"transcript": "XM_047440892.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 321,
"aa_ref": "HH",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 966,
"cds_start": 891,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047440893.1",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.891_893delCCA",
"hgvs_p": "p.His298del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296849.1",
"strand": false,
"transcript": "XM_047440893.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 295,
"aa_ref": "HH",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1927,
"cdna_start": 985,
"cds_end": null,
"cds_length": 888,
"cds_start": 813,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011529623.4",
"gene_hgnc_id": 1300,
"gene_symbol": "C21orf58",
"hgvs_c": "c.813_815delCCA",
"hgvs_p": "p.His272del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527925.1",
"strand": false,
"transcript": "XM_011529623.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 257,
"aa_ref": "HH",
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