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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: 3-38374462-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=38374462&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "XYLB",
"hgnc_id": 12839,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001349178.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 39,
"alphamissense_prediction": null,
"alphamissense_score": 0.889,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.01,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7016394138336182,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1611,
"cds_start": 848,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_005108.4",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000207870.8",
"protein_coding": true,
"protein_id": "NP_005099.2",
"strand": true,
"transcript": "NM_005108.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1611,
"cds_start": 848,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000207870.8",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005108.4",
"protein_coding": true,
"protein_id": "ENSP00000207870.3",
"strand": true,
"transcript": "ENST00000207870.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 571,
"aa_ref": "A",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 919,
"cds_end": null,
"cds_length": 1716,
"cds_start": 848,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000854437.1",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524496.1",
"strand": true,
"transcript": "ENST00000854437.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 562,
"aa_ref": "A",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3977,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1689,
"cds_start": 848,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001349178.2",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336107.1",
"strand": true,
"transcript": "NM_001349178.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 555,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1668,
"cds_start": 767,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000650590.1",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.767C>T",
"hgvs_p": "p.Ala256Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496840.1",
"strand": true,
"transcript": "ENST00000650590.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 509,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 841,
"cds_end": null,
"cds_length": 1530,
"cds_start": 767,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000854434.1",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.767C>T",
"hgvs_p": "p.Ala256Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524493.1",
"strand": true,
"transcript": "ENST00000854434.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 472,
"aa_ref": "A",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 742,
"cds_end": null,
"cds_length": 1419,
"cds_start": 656,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000854436.1",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Ala219Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524495.1",
"strand": true,
"transcript": "ENST00000854436.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 450,
"aa_ref": "A",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1353,
"cds_start": 590,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854435.1",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Ala197Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524494.1",
"strand": true,
"transcript": "ENST00000854435.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 399,
"aa_ref": "A",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1200,
"cds_start": 437,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001349179.2",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ala146Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336108.1",
"strand": true,
"transcript": "NM_001349179.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 823,
"aa_ref": "A",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5242,
"cdna_start": 932,
"cds_end": null,
"cds_length": 2472,
"cds_start": 848,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011534325.4",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532627.1",
"strand": true,
"transcript": "XM_011534325.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 757,
"aa_ref": "A",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5293,
"cdna_start": 983,
"cds_end": null,
"cds_length": 2274,
"cds_start": 650,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017007596.2",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Ala217Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863085.1",
"strand": true,
"transcript": "XM_017007596.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 757,
"aa_ref": "A",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5132,
"cdna_start": 822,
"cds_end": null,
"cds_length": 2274,
"cds_start": 650,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047449381.1",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Ala217Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305337.1",
"strand": true,
"transcript": "XM_047449381.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 686,
"aa_ref": "A",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4953,
"cdna_start": 643,
"cds_end": null,
"cds_length": 2061,
"cds_start": 437,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047449382.1",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ala146Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305338.1",
"strand": true,
"transcript": "XM_047449382.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 585,
"aa_ref": "A",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2045,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1758,
"cds_start": 848,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011534327.3",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532629.1",
"strand": true,
"transcript": "XM_011534327.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 580,
"aa_ref": "A",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3273,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1743,
"cds_start": 848,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011534328.4",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532630.1",
"strand": true,
"transcript": "XM_011534328.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 540,
"aa_ref": "A",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1623,
"cds_start": 848,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011534329.3",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532631.1",
"strand": true,
"transcript": "XM_011534329.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 524,
"aa_ref": "A",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1575,
"cds_start": 848,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011534330.4",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532632.1",
"strand": true,
"transcript": "XM_011534330.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 509,
"aa_ref": "A",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3586,
"cdna_start": 851,
"cds_end": null,
"cds_length": 1530,
"cds_start": 767,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047449383.1",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.767C>T",
"hgvs_p": "p.Ala256Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305339.1",
"strand": true,
"transcript": "XM_047449383.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 470,
"aa_ref": "A",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4418,
"cdna_start": 1683,
"cds_end": null,
"cds_length": 1413,
"cds_start": 650,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_024453850.2",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Ala217Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309618.1",
"strand": true,
"transcript": "XM_024453850.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 430,
"aa_ref": "A",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1425,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1293,
"cds_start": 848,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047449384.1",
"gene_hgnc_id": 12839,
"gene_symbol": "XYLB",
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305340.1",
"strand": true,
"transcript": "XM_047449384.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 596,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4582,
"cdna_start": null,
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