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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-47199576-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47199576&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 47199576,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000335972.11",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala",
"transcript": "NM_003334.4",
"protein_id": "NP_003325.2",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 1058,
"cds_start": 442,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": "ENST00000335972.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala",
"transcript": "ENST00000335972.11",
"protein_id": "ENSP00000338413.6",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 1058,
"cds_start": 442,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": "NM_003334.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala",
"transcript": "ENST00000377351.8",
"protein_id": "ENSP00000366568.4",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 1058,
"cds_start": 442,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.484A>G",
"hgvs_p": "p.Thr162Ala",
"transcript": "NM_001440807.1",
"protein_id": "NP_001427736.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1072,
"cds_start": 484,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 3619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.460A>G",
"hgvs_p": "p.Thr154Ala",
"transcript": "NM_001440809.1",
"protein_id": "NP_001427738.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1064,
"cds_start": 460,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.460A>G",
"hgvs_p": "p.Thr154Ala",
"transcript": "NM_001440810.1",
"protein_id": "NP_001427739.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 1064,
"cds_start": 460,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala",
"transcript": "NM_001440811.1",
"protein_id": "NP_001427740.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 1058,
"cds_start": 442,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala",
"transcript": "NM_001440812.1",
"protein_id": "NP_001427741.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 1058,
"cds_start": 442,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala",
"transcript": "NM_153280.3",
"protein_id": "NP_695012.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 1058,
"cds_start": 442,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.484A>G",
"hgvs_p": "p.Thr162Ala",
"transcript": "ENST00000442035.5",
"protein_id": "ENSP00000389583.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 283,
"cds_start": 484,
"cds_end": null,
"cds_length": 853,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala",
"transcript": "ENST00000412206.5",
"protein_id": "ENSP00000415033.1",
"transcript_support_level": 5,
"aa_start": 148,
"aa_end": null,
"aa_length": 269,
"cds_start": 442,
"cds_end": null,
"cds_length": 812,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.595A>G",
"hgvs_p": "p.Thr199Ala",
"transcript": "ENST00000451702.2",
"protein_id": "ENSP00000401101.1",
"transcript_support_level": 5,
"aa_start": 199,
"aa_end": null,
"aa_length": 233,
"cds_start": 595,
"cds_end": null,
"cds_length": 702,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.484A>G",
"hgvs_p": "p.Thr162Ala",
"transcript": "ENST00000427561.5",
"protein_id": "ENSP00000397816.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 172,
"cds_start": 484,
"cds_end": null,
"cds_length": 521,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.595A>G",
"hgvs_p": "p.Thr199Ala",
"transcript": "XM_017029777.2",
"protein_id": "XP_016885266.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1109,
"cds_start": 595,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 4969,
"cdna_end": null,
"cdna_length": 7903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.595A>G",
"hgvs_p": "p.Thr199Ala",
"transcript": "XM_047442420.1",
"protein_id": "XP_047298376.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1109,
"cds_start": 595,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 2047,
"cdna_end": null,
"cdna_length": 4981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.526A>G",
"hgvs_p": "p.Thr176Ala",
"transcript": "XM_017029778.3",
"protein_id": "XP_016885267.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 1086,
"cds_start": 526,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 2934,
"cdna_end": null,
"cdna_length": 5868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala",
"transcript": "XM_047442421.1",
"protein_id": "XP_047298377.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1085,
"cds_start": 523,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala",
"transcript": "XM_047442422.1",
"protein_id": "XP_047298378.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 1085,
"cds_start": 523,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala",
"transcript": "XM_017029780.2",
"protein_id": "XP_016885269.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 1058,
"cds_start": 442,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 2887,
"cdna_end": null,
"cdna_length": 5821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala",
"transcript": "XM_047442424.1",
"protein_id": "XP_047298380.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 1058,
"cds_start": 442,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala",
"transcript": "XM_047442425.1",
"protein_id": "XP_047298381.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 1058,
"cds_start": 442,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.*10A>G",
"hgvs_p": null,
"transcript": "ENST00000457753.5",
"protein_id": "ENSP00000404796.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": -4,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"dbsnp": "rs782084400",
"frequency_reference_population": 0.000040522424,
"hom_count_reference_population": 17,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.0000418896,
"gnomad_genomes_af": 0.0000270068,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2734086513519287,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.344,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0769,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.271,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000335972.11",
"gene_symbol": "UBA1",
"hgnc_id": 12469,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,Unknown",
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala"
}
],
"clinvar_disease": "Infantile-onset X-linked spinal muscular atrophy",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Infantile-onset X-linked spinal muscular atrophy",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}