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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: 9-122381673-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=122381673&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": "PTGS1",
"hgnc_id": 9604,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Ser",
"inheritance_mode": "SD,AD,AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_000962.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 644,
"alphamissense_prediction": null,
"alphamissense_score": 0.0794,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.010514110326766968,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 599,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5020,
"cdna_start": 749,
"cds_end": null,
"cds_length": 1800,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000962.4",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000362012.7",
"protein_coding": true,
"protein_id": "NP_000953.2",
"strand": true,
"transcript": "NM_000962.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 599,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5020,
"cdna_start": 749,
"cds_end": null,
"cds_length": 1800,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000362012.7",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000962.4",
"protein_coding": true,
"protein_id": "ENSP00000354612.2",
"strand": true,
"transcript": "ENST00000362012.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 562,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1689,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000223423.8",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000223423.4",
"strand": true,
"transcript": "ENST00000223423.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 617,
"aa_ref": "G",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2651,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1854,
"cds_start": 742,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863393.1",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Gly248Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533452.1",
"strand": true,
"transcript": "ENST00000863393.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 562,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4909,
"cdna_start": 749,
"cds_end": null,
"cds_length": 1689,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_080591.3",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_542158.1",
"strand": true,
"transcript": "NM_080591.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 551,
"aa_ref": "G",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4876,
"cdna_start": 605,
"cds_end": null,
"cds_length": 1656,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001271164.2",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258093.1",
"strand": true,
"transcript": "NM_001271164.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 551,
"aa_ref": "G",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1766,
"cdna_start": 590,
"cds_end": null,
"cds_length": 1656,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000619306.5",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483540.2",
"strand": true,
"transcript": "ENST00000619306.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 537,
"aa_ref": "G",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5373,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1614,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001271368.2",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Gly205Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258297.1",
"strand": true,
"transcript": "NM_001271368.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 537,
"aa_ref": "G",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 1614,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000540753.6",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Gly205Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437709.1",
"strand": true,
"transcript": "ENST00000540753.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 523,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2421,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1572,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000863392.1",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Gly191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533451.1",
"strand": true,
"transcript": "ENST00000863392.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 514,
"aa_ref": "G",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4769,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1545,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000863390.1",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533449.1",
"strand": true,
"transcript": "ENST00000863390.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 494,
"aa_ref": "G",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4711,
"cdna_start": 549,
"cds_end": null,
"cds_length": 1485,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863389.1",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533448.1",
"strand": true,
"transcript": "ENST00000863389.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 490,
"aa_ref": "G",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5008,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1473,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001271165.2",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Gly121Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258094.1",
"strand": true,
"transcript": "NM_001271165.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 490,
"aa_ref": "G",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2073,
"cdna_start": 717,
"cds_end": null,
"cds_length": 1473,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000373698.7",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Gly121Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362802.5",
"strand": true,
"transcript": "ENST00000373698.7",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5151,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1362,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001271166.2",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Gly121Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258095.1",
"strand": true,
"transcript": "NM_001271166.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4880,
"cdna_start": 720,
"cds_end": null,
"cds_length": 1362,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001271367.2",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Gly121Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258296.1",
"strand": true,
"transcript": "NM_001271367.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 401,
"aa_ref": "G",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 994,
"cds_end": null,
"cds_length": 1206,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000643810.1",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Gly121Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494717.1",
"strand": true,
"transcript": "ENST00000643810.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 170,
"aa_ref": "G",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 529,
"cdna_start": 393,
"cds_end": null,
"cds_length": 515,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000426608.6",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.379G>A",
"hgvs_p": "p.Gly127Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411606.2",
"strand": true,
"transcript": "ENST00000426608.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 294,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4077,
"cdna_start": null,
"cds_end": null,
"cds_length": 885,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863391.1",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "c.95-4773G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533450.1",
"strand": true,
"transcript": "ENST00000863391.1",
"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": 1894,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000643576.1",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "n.782G>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": "ENST00000643576.1",
"transcript_support_level": null
},
{
"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": 2541,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000647067.1",
"gene_hgnc_id": 9604,
"gene_symbol": "PTGS1",
"hgvs_c": "n.*533G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495728.1",
"strand": true,
"transcript": "ENST00000647067.1",
"transcript_support_level": null
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