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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: 16-4823850-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4823850&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GLYR1",
"hgnc_id": 24434,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_032569.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.0741,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "16",
"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": 0.03518879413604736,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 553,
"aa_ref": "A",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 618,
"cds_end": null,
"cds_length": 1662,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_032569.4",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000321919.14",
"protein_coding": true,
"protein_id": "NP_115958.2",
"strand": false,
"transcript": "NM_032569.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 553,
"aa_ref": "A",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 618,
"cds_end": null,
"cds_length": 1662,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000321919.14",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032569.4",
"protein_coding": true,
"protein_id": "ENSP00000322716.6",
"strand": false,
"transcript": "ENST00000321919.14",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 547,
"aa_ref": "A",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1831,
"cdna_start": 595,
"cds_end": null,
"cds_length": 1644,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000591451.5",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468328.1",
"strand": false,
"transcript": "ENST00000591451.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 523,
"aa_ref": "A",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3606,
"cdna_start": 557,
"cds_end": null,
"cds_length": 1572,
"cds_start": 556,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000589389.5",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Ala186Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466570.1",
"strand": false,
"transcript": "ENST00000589389.5",
"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": 3527,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000588732.5",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "n.*635G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466127.1",
"strand": false,
"transcript": "ENST00000588732.5",
"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": 3527,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000588732.5",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "n.*635G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000466127.1",
"strand": false,
"transcript": "ENST00000588732.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 563,
"aa_ref": "A",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3728,
"cdna_start": 635,
"cds_end": null,
"cds_length": 1692,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899199.1",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Ala209Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569258.1",
"strand": false,
"transcript": "ENST00000899199.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 552,
"aa_ref": "A",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3771,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1659,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925081.1",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595140.1",
"strand": false,
"transcript": "ENST00000925081.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 551,
"aa_ref": "A",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1656,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925088.1",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595147.1",
"strand": false,
"transcript": "ENST00000925088.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 547,
"aa_ref": "A",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": 618,
"cds_end": null,
"cds_length": 1644,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001308096.2",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295025.1",
"strand": false,
"transcript": "NM_001308096.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 547,
"aa_ref": "A",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1644,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899200.1",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569259.1",
"strand": false,
"transcript": "ENST00000899200.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 546,
"aa_ref": "A",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3713,
"cdna_start": 630,
"cds_end": null,
"cds_length": 1641,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925082.1",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595141.1",
"strand": false,
"transcript": "ENST00000925082.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 618,
"cds_end": null,
"cds_length": 1611,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001324098.2",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311027.2",
"strand": false,
"transcript": "NM_001324098.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3654,
"cdna_start": 605,
"cds_end": null,
"cds_length": 1611,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925087.1",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595146.1",
"strand": false,
"transcript": "ENST00000925087.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 530,
"aa_ref": "A",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3646,
"cdna_start": 615,
"cds_end": null,
"cds_length": 1593,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899196.1",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569255.1",
"strand": false,
"transcript": "ENST00000899196.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 519,
"aa_ref": "A",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3614,
"cdna_start": 615,
"cds_end": null,
"cds_length": 1560,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899195.1",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569254.1",
"strand": false,
"transcript": "ENST00000899195.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 517,
"aa_ref": "A",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3600,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1554,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925086.1",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595145.1",
"strand": false,
"transcript": "ENST00000925086.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 513,
"aa_ref": "A",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3593,
"cdna_start": 613,
"cds_end": null,
"cds_length": 1542,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925084.1",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595143.1",
"strand": false,
"transcript": "ENST00000925084.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 502,
"aa_ref": "A",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1792,
"cdna_start": 615,
"cds_end": null,
"cds_length": 1509,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899201.1",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569260.1",
"strand": false,
"transcript": "ENST00000899201.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 496,
"aa_ref": "A",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3546,
"cdna_start": 617,
"cds_end": null,
"cds_length": 1491,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925083.1",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595142.1",
"strand": false,
"transcript": "ENST00000925083.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 472,
"aa_ref": "A",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": 375,
"cds_end": null,
"cds_length": 1419,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001324097.2",
"gene_hgnc_id": 24434,
"gene_symbol": "GLYR1",
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Ala118Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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