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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: X-54809926-TC-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=54809926&ref=TC&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MAGED2",
"hgnc_id": 16353,
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"inheritance_mode": "XL,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_014599.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"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": "L",
"aa_end": null,
"aa_length": 606,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": 337,
"cds_end": null,
"cds_length": 1821,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_177433.3",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375068.6",
"protein_coding": true,
"protein_id": "NP_803182.1",
"strand": true,
"transcript": "NM_177433.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 606,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": 337,
"cds_end": null,
"cds_length": 1821,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000375068.6",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_177433.3",
"protein_coding": true,
"protein_id": "ENSP00000364209.1",
"strand": true,
"transcript": "ENST00000375068.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 606,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 483,
"cds_end": null,
"cds_length": 1821,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000375053.6",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364193.2",
"strand": true,
"transcript": "ENST00000375053.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 606,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 342,
"cds_end": null,
"cds_length": 1821,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000375058.5",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364198.1",
"strand": true,
"transcript": "ENST00000375058.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 641,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 443,
"cds_end": null,
"cds_length": 1926,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919666.1",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589725.1",
"strand": true,
"transcript": "ENST00000919666.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 640,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2146,
"cdna_start": 335,
"cds_end": null,
"cds_length": 1923,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872302.1",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542361.1",
"strand": true,
"transcript": "ENST00000872302.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 640,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 341,
"cds_end": null,
"cds_length": 1923,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944666.1",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614725.1",
"strand": true,
"transcript": "ENST00000944666.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 634,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2151,
"cdna_start": 353,
"cds_end": null,
"cds_length": 1905,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872307.1",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542366.1",
"strand": true,
"transcript": "ENST00000872307.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 634,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 370,
"cds_end": null,
"cds_length": 1905,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919654.1",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589713.1",
"strand": true,
"transcript": "ENST00000919654.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 634,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 431,
"cds_end": null,
"cds_length": 1905,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919667.1",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589726.1",
"strand": true,
"transcript": "ENST00000919667.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 630,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2137,
"cdna_start": 351,
"cds_end": null,
"cds_length": 1893,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919661.1",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589720.1",
"strand": true,
"transcript": "ENST00000919661.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 630,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 335,
"cds_end": null,
"cds_length": 1893,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944667.1",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614726.1",
"strand": true,
"transcript": "ENST00000944667.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 621,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 398,
"cds_end": null,
"cds_length": 1866,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872297.1",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542356.1",
"strand": true,
"transcript": "ENST00000872297.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 621,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 355,
"cds_end": null,
"cds_length": 1866,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872308.1",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542367.1",
"strand": true,
"transcript": "ENST00000872308.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 621,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 335,
"cds_end": null,
"cds_length": 1866,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872311.1",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542370.1",
"strand": true,
"transcript": "ENST00000872311.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 621,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 422,
"cds_end": null,
"cds_length": 1866,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919668.1",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589727.1",
"strand": true,
"transcript": "ENST00000919668.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 621,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2280,
"cdna_start": 337,
"cds_end": null,
"cds_length": 1866,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944664.1",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614723.1",
"strand": true,
"transcript": "ENST00000944664.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 614,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1845,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919658.1",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589717.1",
"strand": true,
"transcript": "ENST00000919658.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 606,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": 367,
"cds_end": null,
"cds_length": 1821,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014599.6",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055414.2",
"strand": true,
"transcript": "NM_014599.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 606,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": 422,
"cds_end": null,
"cds_length": 1821,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201222.3",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_957516.1",
"strand": true,
"transcript": "NM_201222.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 606,
"aa_ref": "S",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": 375,
"cds_end": null,
"cds_length": 1821,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000218439.8",
"gene_hgnc_id": 16353,
"gene_symbol": "MAGED2",
"hgvs_c": "c.250_251delTCinsCT",
"hgvs_p": "p.Ser84Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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