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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: 6-73644582-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=73644582&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 73644582,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001382633.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "NM_012434.5",
"protein_id": "NP_036566.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 495,
"cds_start": 116,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355773.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012434.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "ENST00000355773.6",
"protein_id": "ENSP00000348019.5",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 495,
"cds_start": 116,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012434.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355773.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "NM_001382633.1",
"protein_id": "NP_001369562.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 533,
"cds_start": 116,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382633.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "ENST00000957536.1",
"protein_id": "ENSP00000627595.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 533,
"cds_start": 116,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957536.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.137G>A",
"hgvs_p": "p.Arg46His",
"transcript": "NM_001382631.1",
"protein_id": "NP_001369560.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 502,
"cds_start": 137,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382631.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "NM_001382635.1",
"protein_id": "NP_001369564.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 494,
"cds_start": 116,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382635.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "NM_001382630.1",
"protein_id": "NP_001369559.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 470,
"cds_start": 116,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382630.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "ENST00000957535.1",
"protein_id": "ENSP00000627594.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 469,
"cds_start": 116,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957535.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "NM_001382632.1",
"protein_id": "NP_001369561.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 466,
"cds_start": 116,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382632.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "ENST00000908538.1",
"protein_id": "ENSP00000578597.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 466,
"cds_start": 116,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908538.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "NM_001382634.1",
"protein_id": "NP_001369563.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 442,
"cds_start": 116,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382634.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "ENST00000908537.1",
"protein_id": "ENSP00000578596.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 442,
"cds_start": 116,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908537.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "ENST00000933630.1",
"protein_id": "ENSP00000603689.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 417,
"cds_start": 116,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933630.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His",
"transcript": "XM_047418630.1",
"protein_id": "XP_047274586.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 397,
"cds_start": 116,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418630.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.61-2658G>A",
"hgvs_p": null,
"transcript": "NM_001382629.1",
"protein_id": "NP_001369558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": null,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382629.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.61-2658G>A",
"hgvs_p": null,
"transcript": "NM_001382636.1",
"protein_id": "NP_001369565.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": null,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382636.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.95-2839G>A",
"hgvs_p": null,
"transcript": "ENST00000933631.1",
"protein_id": "ENSP00000603690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": null,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933631.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "n.-119G>A",
"hgvs_p": null,
"transcript": "ENST00000481996.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000481996.1"
}
],
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"dbsnp": "rs769235753",
"frequency_reference_population": 0.000017349686,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000171026,
"gnomad_genomes_af": 0.0000197246,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9732890129089355,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.573,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9591,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.312,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001382633.1",
"gene_symbol": "SLC17A5",
"hgnc_id": 10933,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.116G>A",
"hgvs_p": "p.Arg39His"
}
],
"clinvar_disease": " severe infantile type,Salla disease,Sialic acid storage disease,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:5",
"phenotype_combined": "Salla disease|not provided|Sialic acid storage disease, severe infantile type|Sialic acid storage disease, severe infantile type;Salla disease",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}