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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-154428759-A-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154428759&ref=A&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "ATP6AP1",
"hgnc_id": 868,
"hgvs_c": "c.68dupT",
"hgvs_p": "p.Met23fs",
"inheritance_mode": "XL",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001183.6",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ATP6AP1-DT",
"hgnc_id": 25138,
"hgvs_c": "n.-211dupA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000360656.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 470,
"aa_ref": "M",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2054,
"cdna_start": 85,
"cds_end": null,
"cds_length": 1413,
"cds_start": 69,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001183.6",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "c.68dupT",
"hgvs_p": "p.Met23fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369762.7",
"protein_coding": true,
"protein_id": "NP_001174.2",
"strand": true,
"transcript": "NM_001183.6",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 470,
"aa_ref": "M",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2054,
"cdna_start": 85,
"cds_end": null,
"cds_length": 1413,
"cds_start": 69,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000369762.7",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "c.68dupT",
"hgvs_p": "p.Met23fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001183.6",
"protein_coding": true,
"protein_id": "ENSP00000358777.2",
"strand": true,
"transcript": "ENST00000369762.7",
"transcript_support_level": 1
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 494,
"aa_ref": "M",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 130,
"cds_end": null,
"cds_length": 1485,
"cds_start": 69,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000945275.1",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "c.68dupT",
"hgvs_p": "p.Met23fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615334.1",
"strand": true,
"transcript": "ENST00000945275.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 487,
"aa_ref": "M",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": 106,
"cds_end": null,
"cds_length": 1464,
"cds_start": 69,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000862438.1",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "c.68dupT",
"hgvs_p": "p.Met23fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532497.1",
"strand": true,
"transcript": "ENST00000862438.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 83,
"cds_end": null,
"cds_length": 1443,
"cds_start": 69,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000945278.1",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "c.68dupT",
"hgvs_p": "p.Met23fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615337.1",
"strand": true,
"transcript": "ENST00000945278.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 468,
"aa_ref": "M",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 144,
"cds_end": null,
"cds_length": 1407,
"cds_start": 69,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000862435.1",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "c.68dupT",
"hgvs_p": "p.Met23fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532494.1",
"strand": true,
"transcript": "ENST00000862435.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 454,
"aa_ref": "M",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 128,
"cds_end": null,
"cds_length": 1365,
"cds_start": 69,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000862436.1",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "c.68dupT",
"hgvs_p": "p.Met23fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532495.1",
"strand": true,
"transcript": "ENST00000862436.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 445,
"aa_ref": "M",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 85,
"cds_end": null,
"cds_length": 1338,
"cds_start": 69,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000862440.1",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "c.68dupT",
"hgvs_p": "p.Met23fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532499.1",
"strand": true,
"transcript": "ENST00000862440.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 442,
"aa_ref": "M",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1998,
"cdna_start": 117,
"cds_end": null,
"cds_length": 1329,
"cds_start": 69,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000862437.1",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "c.68dupT",
"hgvs_p": "p.Met23fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532496.1",
"strand": true,
"transcript": "ENST00000862437.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 417,
"aa_ref": "M",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1912,
"cdna_start": 106,
"cds_end": null,
"cds_length": 1254,
"cds_start": 69,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000945276.1",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "c.68dupT",
"hgvs_p": "p.Met23fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615335.1",
"strand": true,
"transcript": "ENST00000945276.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 348,
"aa_ref": "M",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1691,
"cdna_start": 88,
"cds_end": null,
"cds_length": 1047,
"cds_start": 69,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000945277.1",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "c.68dupT",
"hgvs_p": "p.Met23fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615336.1",
"strand": true,
"transcript": "ENST00000945277.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 323,
"aa_ref": "M",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1613,
"cdna_start": 85,
"cds_end": null,
"cds_length": 972,
"cds_start": 69,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000862439.1",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "c.68dupT",
"hgvs_p": "p.Met23fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532498.1",
"strand": true,
"transcript": "ENST00000862439.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 272,
"aa_ref": "M",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 867,
"cdna_start": 117,
"cds_end": null,
"cds_length": 819,
"cds_start": 69,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000422890.5",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "c.68dupT",
"hgvs_p": "p.Met23fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398511.1",
"strand": true,
"transcript": "ENST00000422890.5",
"transcript_support_level": 5
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 229,
"aa_ref": "M",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 720,
"cdna_start": 99,
"cds_end": null,
"cds_length": 690,
"cds_start": 69,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000449556.5",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "c.68dupT",
"hgvs_p": "p.Met23fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392375.1",
"strand": true,
"transcript": "ENST00000449556.5",
"transcript_support_level": 5
},
{
"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": 769,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000429585.5",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "n.20dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000408470.1",
"strand": true,
"transcript": "ENST00000429585.5",
"transcript_support_level": 5
},
{
"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": 2429,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000439372.6",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "n.68dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000408317.1",
"strand": true,
"transcript": "ENST00000439372.6",
"transcript_support_level": 4
},
{
"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": 571,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000446552.1",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "n.68dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000411209.1",
"strand": true,
"transcript": "ENST00000446552.1",
"transcript_support_level": 4
},
{
"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": 4515,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000455205.5",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "n.62dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000396643.1",
"strand": true,
"transcript": "ENST00000455205.5",
"transcript_support_level": 2
},
{
"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": 2318,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000677342.1",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "n.68dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503173.1",
"strand": true,
"transcript": "ENST00000677342.1",
"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": 2111,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000679241.1",
"gene_hgnc_id": 868,
"gene_symbol": "ATP6AP1",
"hgvs_c": "n.68dupT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503588.1",
"strand": true,
"transcript": "ENST00000679241.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 671,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000360656.5",
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]
}