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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-147936534-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=147936534&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FMR1",
"hgnc_id": 3775,
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Ile304Asn",
"inheritance_mode": "XL",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_002024.6",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_score": 7,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 1,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"chr": "X",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Fragile X syndrome",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9669244885444641,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 632,
"aa_ref": "I",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4441,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1899,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_002024.6",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Ile304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370475.9",
"protein_coding": true,
"protein_id": "NP_002015.1",
"strand": true,
"transcript": "NM_002024.6",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 632,
"aa_ref": "I",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4441,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1899,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000370475.9",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Ile304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002024.6",
"protein_coding": true,
"protein_id": "ENSP00000359506.5",
"strand": true,
"transcript": "ENST00000370475.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 611,
"aa_ref": "I",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4333,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1836,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000218200.12",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Ile304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000218200.8",
"strand": true,
"transcript": "ENST00000218200.12",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 592,
"aa_ref": "I",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3699,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1779,
"cds_start": 905,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000439526.6",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.905T>A",
"hgvs_p": "p.Ile302Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395923.2",
"strand": true,
"transcript": "ENST00000439526.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 586,
"aa_ref": "I",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4271,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1761,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000440235.6",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Ile304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413764.3",
"strand": true,
"transcript": "ENST00000440235.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 548,
"aa_ref": "I",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1827,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1647,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000621453.5",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Ile304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479528.2",
"strand": true,
"transcript": "ENST00000621453.5",
"transcript_support_level": 1
},
{
"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": 4830,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000620828.4",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "n.1630T>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": "ENST00000620828.4",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 633,
"aa_ref": "I",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4291,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1902,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000943060.1",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.965T>A",
"hgvs_p": "p.Ile322Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613119.1",
"strand": true,
"transcript": "ENST00000943060.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 629,
"aa_ref": "I",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1890,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000943057.1",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.965T>A",
"hgvs_p": "p.Ile322Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613116.1",
"strand": true,
"transcript": "ENST00000943057.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 620,
"aa_ref": "I",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4254,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 1863,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000857074.1",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Ile304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527133.1",
"strand": true,
"transcript": "ENST00000857074.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 615,
"aa_ref": "I",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4166,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1848,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000690137.1",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Ile304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509813.1",
"strand": true,
"transcript": "ENST00000690137.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 612,
"aa_ref": "I",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4371,
"cdna_start": 1229,
"cds_end": null,
"cds_length": 1839,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000943058.1",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.965T>A",
"hgvs_p": "p.Ile322Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613117.1",
"strand": true,
"transcript": "ENST00000943058.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 611,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4378,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1836,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001185076.2",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Ile304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001172005.1",
"strand": true,
"transcript": "NM_001185076.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 607,
"aa_ref": "I",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4304,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1824,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000928839.1",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Ile304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598898.1",
"strand": true,
"transcript": "ENST00000928839.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 603,
"aa_ref": "I",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4194,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1812,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000857075.1",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Ile304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527134.1",
"strand": true,
"transcript": "ENST00000857075.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 600,
"aa_ref": "I",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4153,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 1803,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000943061.1",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.929T>A",
"hgvs_p": "p.Ile310Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613120.1",
"strand": true,
"transcript": "ENST00000943061.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 599,
"aa_ref": "I",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4154,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1800,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000691111.1",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Ile304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509552.1",
"strand": true,
"transcript": "ENST00000691111.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 594,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4159,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 1785,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000687593.1",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Ile304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509270.1",
"strand": true,
"transcript": "ENST00000687593.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 590,
"aa_ref": "I",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1774,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1773,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000370470.5",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Ile304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359501.1",
"strand": true,
"transcript": "ENST00000370470.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 589,
"aa_ref": "I",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3788,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 1770,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000943062.1",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Ile304Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613121.1",
"strand": true,
"transcript": "ENST00000943062.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 587,
"aa_ref": "I",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4008,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1764,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000690216.1",
"gene_hgnc_id": 3775,
"gene_symbol": "FMR1",
"hgvs_c": "c.911T>A",
"hgvs_p": "p.Ile304Asn",
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