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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: 17-81979206-GG-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81979206&ref=GG&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ASPSCR1",
"hgnc_id": 13825,
"hgvs_c": "c.125_126delGGinsCA",
"hgvs_p": "p.Arg42Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001251888.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"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": "P",
"aa_end": null,
"aa_length": 553,
"aa_ref": "R",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 143,
"cds_end": null,
"cds_length": 1662,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024083.4",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.125_126delGGinsCA",
"hgvs_p": "p.Arg42Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000306739.9",
"protein_coding": true,
"protein_id": "NP_076988.1",
"strand": true,
"transcript": "NM_024083.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 553,
"aa_ref": "R",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 143,
"cds_end": null,
"cds_length": 1662,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000306739.9",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.125_126delGGinsCA",
"hgvs_p": "p.Arg42Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024083.4",
"protein_coding": true,
"protein_id": "ENSP00000302176.4",
"strand": true,
"transcript": "ENST00000306739.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000584454.5",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "n.-107_-106delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463992.1",
"strand": true,
"transcript": "ENST00000584454.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000584454.5",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "n.-107_-106delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463992.1",
"strand": true,
"transcript": "ENST00000584454.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2046,
"cdna_start": 143,
"cds_end": null,
"cds_length": 1944,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001251888.2",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.125_126delGGinsCA",
"hgvs_p": "p.Arg42Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001238817.1",
"strand": true,
"transcript": "NM_001251888.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 647,
"aa_ref": "R",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 222,
"cds_end": null,
"cds_length": 1944,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000306729.11",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.125_126delGGinsCA",
"hgvs_p": "p.Arg42Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000306625.7",
"strand": true,
"transcript": "ENST00000306729.11",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 562,
"aa_ref": "R",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 170,
"cds_end": null,
"cds_length": 1689,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889826.1",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.152_153delGGinsCA",
"hgvs_p": "p.Arg51Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559885.1",
"strand": true,
"transcript": "ENST00000889826.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 548,
"aa_ref": "R",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1739,
"cdna_start": 134,
"cds_end": null,
"cds_length": 1647,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889830.1",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.125_126delGGinsCA",
"hgvs_p": "p.Arg42Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559889.1",
"strand": true,
"transcript": "ENST00000889830.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 547,
"aa_ref": "R",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1744,
"cdna_start": 143,
"cds_end": null,
"cds_length": 1644,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889828.1",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.125_126delGGinsCA",
"hgvs_p": "p.Arg42Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559887.1",
"strand": true,
"transcript": "ENST00000889828.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 544,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": 133,
"cds_end": null,
"cds_length": 1635,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889825.1",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.98_99delGGinsCA",
"hgvs_p": "p.Arg33Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559884.1",
"strand": true,
"transcript": "ENST00000889825.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 477,
"aa_ref": "R",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1534,
"cdna_start": 143,
"cds_end": null,
"cds_length": 1434,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889829.1",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.125_126delGGinsCA",
"hgvs_p": "p.Arg42Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559888.1",
"strand": true,
"transcript": "ENST00000889829.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 447,
"aa_ref": "R",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 160,
"cds_end": null,
"cds_length": 1344,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911386.1",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.125_126delGGinsCA",
"hgvs_p": "p.Arg42Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581445.1",
"strand": true,
"transcript": "ENST00000911386.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 411,
"aa_ref": "R",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1320,
"cdna_start": 130,
"cds_end": null,
"cds_length": 1236,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948950.1",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.125_126delGGinsCA",
"hgvs_p": "p.Arg42Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619009.1",
"strand": true,
"transcript": "ENST00000948950.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 386,
"aa_ref": "R",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1261,
"cdna_start": 143,
"cds_end": null,
"cds_length": 1161,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889827.1",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.125_126delGGinsCA",
"hgvs_p": "p.Arg42Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559886.1",
"strand": true,
"transcript": "ENST00000889827.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 306,
"aa_ref": "R",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1001,
"cdna_start": 196,
"cds_end": null,
"cds_length": 921,
"cds_start": 116,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000581484.5",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.116_117delGGinsCA",
"hgvs_p": "p.Arg39Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463316.1",
"strand": true,
"transcript": "ENST00000581484.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 186,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 564,
"cdna_start": 67,
"cds_end": null,
"cds_length": 562,
"cds_start": 65,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000579684.5",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.65_66delGGinsCA",
"hgvs_p": "p.Arg22Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461984.1",
"strand": true,
"transcript": "ENST00000579684.5",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 720,
"cdna_start": 141,
"cds_end": null,
"cds_length": 549,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000581647.5",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.125_126delGGinsCA",
"hgvs_p": "p.Arg42Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464408.1",
"strand": true,
"transcript": "ENST00000581647.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1035,
"cdna_start": null,
"cds_end": null,
"cds_length": 14,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000582019.5",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.-93_-92delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463708.1",
"strand": true,
"transcript": "ENST00000582019.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 501,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": null,
"cds_end": null,
"cds_length": 1506,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330528.2",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.-74+1458_-74+1459delGGinsCA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317457.1",
"strand": true,
"transcript": "NM_001330528.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 501,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": null,
"cds_end": null,
"cds_length": 1506,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000580534.5",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "c.-74+1458_-74+1459delGGinsCA",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462329.1",
"strand": true,
"transcript": "ENST00000580534.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1041,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000344865.10",
"gene_hgnc_id": 13825,
"gene_symbol": "ASPSCR1",
"hgvs_c": "n.125_126delGGinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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