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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: 10-98387303-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=98387303&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PYROXD2",
"hgnc_id": 23517,
"hgvs_c": "c.1452T>C",
"hgvs_p": "p.Phe484Phe",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_032709.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 615417,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5099999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 581,
"aa_ref": "F",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1452,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_032709.3",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1452T>C",
"hgvs_p": "p.Phe484Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370575.5",
"protein_coding": true,
"protein_id": "NP_116098.2",
"strand": false,
"transcript": "NM_032709.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 581,
"aa_ref": "F",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1452,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000370575.5",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1452T>C",
"hgvs_p": "p.Phe484Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032709.3",
"protein_coding": true,
"protein_id": "ENSP00000359607.4",
"strand": false,
"transcript": "ENST00000370575.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2865,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000483923.5",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "n.2338T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000483923.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 466,
"aa_ref": "*",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3009,
"cdna_start": 2907,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1399,
"consequences": [
"stop_lost"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047425890.1",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1399T>C",
"hgvs_p": "p.Ter467Argext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281846.1",
"strand": false,
"transcript": "XM_047425890.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 629,
"aa_ref": "F",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2142,
"cdna_start": 1624,
"cds_end": null,
"cds_length": 1890,
"cds_start": 1596,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000906254.1",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1596T>C",
"hgvs_p": "p.Phe532Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576313.1",
"strand": false,
"transcript": "ENST00000906254.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 628,
"aa_ref": "F",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2127,
"cdna_start": 1606,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000965723.1",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1593T>C",
"hgvs_p": "p.Phe531Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635782.1",
"strand": false,
"transcript": "ENST00000965723.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 622,
"aa_ref": "F",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2118,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1575,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000965722.1",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1575T>C",
"hgvs_p": "p.Phe525Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635781.1",
"strand": false,
"transcript": "ENST00000965722.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 619,
"aa_ref": "F",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2166,
"cdna_start": 1641,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1566,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000906252.1",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1566T>C",
"hgvs_p": "p.Phe522Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576311.1",
"strand": false,
"transcript": "ENST00000906252.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1317,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000906253.1",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1317T>C",
"hgvs_p": "p.Phe439Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576312.1",
"strand": false,
"transcript": "ENST00000906253.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 653,
"aa_ref": "F",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": 3176,
"cds_end": null,
"cds_length": 1962,
"cds_start": 1668,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047425881.1",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1668T>C",
"hgvs_p": "p.Phe556Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281837.1",
"strand": false,
"transcript": "XM_047425881.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 619,
"aa_ref": "F",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2137,
"cdna_start": 1613,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1566,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047425882.1",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1566T>C",
"hgvs_p": "p.Phe522Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281838.1",
"strand": false,
"transcript": "XM_047425882.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 615,
"aa_ref": "F",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3586,
"cdna_start": 3062,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1554,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011540293.3",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1554T>C",
"hgvs_p": "p.Phe518Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538595.1",
"strand": false,
"transcript": "XM_011540293.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 598,
"aa_ref": "F",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2179,
"cdna_start": 1613,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1566,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047425883.1",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1566T>C",
"hgvs_p": "p.Phe522Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281839.1",
"strand": false,
"transcript": "XM_047425883.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 594,
"aa_ref": "F",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": 3062,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1554,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047425884.1",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1554T>C",
"hgvs_p": "p.Phe518Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281840.1",
"strand": false,
"transcript": "XM_047425884.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 566,
"aa_ref": "F",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": 1613,
"cds_end": null,
"cds_length": 1701,
"cds_start": 1566,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047425885.1",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1566T>C",
"hgvs_p": "p.Phe522Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281841.1",
"strand": false,
"transcript": "XM_047425885.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 562,
"aa_ref": "F",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3402,
"cdna_start": 3062,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1554,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047425886.1",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1554T>C",
"hgvs_p": "p.Phe518Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281842.1",
"strand": false,
"transcript": "XM_047425886.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 560,
"aa_ref": "F",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 1499,
"cds_end": null,
"cds_length": 1683,
"cds_start": 1452,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017016835.2",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1452T>C",
"hgvs_p": "p.Phe484Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872324.1",
"strand": false,
"transcript": "XM_017016835.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 498,
"aa_ref": "F",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4250,
"cdna_start": 3726,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1203,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047425887.1",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1203T>C",
"hgvs_p": "p.Phe401Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281843.1",
"strand": false,
"transcript": "XM_047425887.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 498,
"aa_ref": "F",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 1656,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1203,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047425888.1",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1203T>C",
"hgvs_p": "p.Phe401Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281844.1",
"strand": false,
"transcript": "XM_047425888.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 460,
"aa_ref": "F",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1089,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017016839.3",
"gene_hgnc_id": 23517,
"gene_symbol": "PYROXD2",
"hgvs_c": "c.1089T>C",
"hgvs_p": "p.Phe363Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872328.1",
"strand": false,
"transcript": "XM_017016839.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 460,
"aa_ref": "F",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1969,
"cdna_start": 1445,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1089,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
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