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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: 20-58909186-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=58909186&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "GNAS",
"hgnc_id": 4392,
"hgvs_c": "c.2484C>T",
"hgvs_p": "p.Ile828Ile",
"inheritance_mode": "AD,Mitochondrial,Unknown",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_080425.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_score": -19,
"allele_count_reference_population": 38883,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "20",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.30000001192092896,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "I",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": 3034,
"cds_end": null,
"cds_length": 3114,
"cds_start": 2484,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_080425.4",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.2484C>T",
"hgvs_p": "p.Ile828Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000371100.9",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_536350.2",
"strand": true,
"transcript": "NM_080425.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "I",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": 3034,
"cds_end": null,
"cds_length": 3114,
"cds_start": 2484,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000371100.9",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.2484C>T",
"hgvs_p": "p.Ile828Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_080425.4",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360141.3",
"strand": true,
"transcript": "ENST00000371100.9",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 394,
"aa_ref": "I",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1185,
"cds_start": 555,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000516.7",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.555C>T",
"hgvs_p": "p.Ile185Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371085.8",
"protein_coding": true,
"protein_id": "NP_000507.1",
"strand": true,
"transcript": "NM_000516.7",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 394,
"aa_ref": "I",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1185,
"cds_start": 555,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000371085.8",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.555C>T",
"hgvs_p": "p.Ile185Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000516.7",
"protein_coding": true,
"protein_id": "ENSP00000360126.3",
"strand": true,
"transcript": "ENST00000371085.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1038,
"aa_ref": "I",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4032,
"cdna_start": 3039,
"cds_end": null,
"cds_length": 3117,
"cds_start": 2487,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000676826.2",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.2487C>T",
"hgvs_p": "p.Ile829Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504675.2",
"strand": true,
"transcript": "ENST00000676826.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1023,
"aa_ref": "I",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3438,
"cdna_start": 2445,
"cds_end": null,
"cds_length": 3072,
"cds_start": 2442,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000371102.8",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.2442C>T",
"hgvs_p": "p.Ile814Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360143.4",
"strand": true,
"transcript": "ENST00000371102.8",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 395,
"aa_ref": "I",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1857,
"cdna_start": 864,
"cds_end": null,
"cds_length": 1188,
"cds_start": 558,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000354359.12",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Ile186Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346328.7",
"strand": true,
"transcript": "ENST00000354359.12",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 380,
"aa_ref": "I",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1143,
"cds_start": 513,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000371095.7",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.513C>T",
"hgvs_p": "p.Ile171Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360136.3",
"strand": true,
"transcript": "ENST00000371095.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 379,
"aa_ref": "I",
"aa_start": 170,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1140,
"cds_start": 510,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000265620.11",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.510C>T",
"hgvs_p": "p.Ile170Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265620.7",
"strand": true,
"transcript": "ENST00000265620.11",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 336,
"aa_ref": "I",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 629,
"cds_end": null,
"cds_length": 1011,
"cds_start": 381,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000470512.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Ile127Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499552.2",
"strand": true,
"transcript": "ENST00000470512.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 336,
"aa_ref": "I",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1554,
"cdna_start": 574,
"cds_end": null,
"cds_length": 1011,
"cds_start": 381,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000480232.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Ile127Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499545.2",
"strand": true,
"transcript": "ENST00000480232.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 336,
"aa_ref": "I",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1666,
"cdna_start": 673,
"cds_end": null,
"cds_length": 1011,
"cds_start": 381,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000663479.2",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.381C>T",
"hgvs_p": "p.Ile127Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499353.2",
"strand": true,
"transcript": "ENST00000663479.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 335,
"aa_ref": "I",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1008,
"cds_start": 378,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000477931.5",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.378C>T",
"hgvs_p": "p.Ile126Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499660.1",
"strand": true,
"transcript": "ENST00000477931.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 321,
"aa_ref": "I",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": 632,
"cds_end": null,
"cds_length": 966,
"cds_start": 336,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000462499.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.336C>T",
"hgvs_p": "p.Ile112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499758.2",
"strand": true,
"transcript": "ENST00000462499.6",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 321,
"aa_ref": "I",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1489,
"cdna_start": 496,
"cds_end": null,
"cds_length": 966,
"cds_start": 336,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000467227.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.336C>T",
"hgvs_p": "p.Ile112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499681.2",
"strand": true,
"transcript": "ENST00000467227.6",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 321,
"aa_ref": "I",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1548,
"cdna_start": 568,
"cds_end": null,
"cds_length": 966,
"cds_start": 336,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000478585.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.336C>T",
"hgvs_p": "p.Ile112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499762.2",
"strand": true,
"transcript": "ENST00000478585.6",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 321,
"aa_ref": "I",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1417,
"cdna_start": 424,
"cds_end": null,
"cds_length": 966,
"cds_start": 336,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000481039.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.336C>T",
"hgvs_p": "p.Ile112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499767.2",
"strand": true,
"transcript": "ENST00000481039.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 321,
"aa_ref": "I",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 800,
"cds_end": null,
"cds_length": 966,
"cds_start": 336,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000485673.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.336C>T",
"hgvs_p": "p.Ile112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499334.2",
"strand": true,
"transcript": "ENST00000485673.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 321,
"aa_ref": "I",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1407,
"cdna_start": 414,
"cds_end": null,
"cds_length": 966,
"cds_start": 336,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000488546.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.336C>T",
"hgvs_p": "p.Ile112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499332.2",
"strand": true,
"transcript": "ENST00000488546.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 321,
"aa_ref": "I",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1499,
"cdna_start": 506,
"cds_end": null,
"cds_length": 966,
"cds_start": 336,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000492907.6",
"gene_hgnc_id": 4392,
"gene_symbol": "GNAS",
"hgvs_c": "c.336C>T",
"hgvs_p": "p.Ile112Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499443.2",
"strand": true,
"transcript": "ENST00000492907.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 245,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2551,
"cdna_start": null,
"cds_end": null,
"cds_length": 738,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_016592.5",
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