← Back to variant description
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: 6-73621883-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=73621883&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 73621883,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000355773.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "NM_012434.5",
"protein_id": "NP_036566.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 495,
"cds_start": 899,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": "ENST00000355773.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "ENST00000355773.6",
"protein_id": "ENSP00000348019.5",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 495,
"cds_start": 899,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": "NM_012434.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "NM_001382633.1",
"protein_id": "NP_001369562.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 533,
"cds_start": 899,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Ser307Phe",
"transcript": "NM_001382631.1",
"protein_id": "NP_001369560.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 502,
"cds_start": 920,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 3313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Ser299Phe",
"transcript": "NM_001382635.1",
"protein_id": "NP_001369564.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 494,
"cds_start": 896,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 3289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "NM_001382630.1",
"protein_id": "NP_001369559.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 470,
"cds_start": 899,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.812C>T",
"hgvs_p": "p.Ser271Phe",
"transcript": "NM_001382632.1",
"protein_id": "NP_001369561.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 466,
"cds_start": 812,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Ser223Phe",
"transcript": "NM_001382629.1",
"protein_id": "NP_001369558.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 418,
"cds_start": 668,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 3095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Ser194Phe",
"transcript": "NM_001382636.1",
"protein_id": "NP_001369565.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 389,
"cds_start": 581,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe",
"transcript": "XM_047418630.1",
"protein_id": "XP_047274586.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 397,
"cds_start": 899,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ser169Phe",
"transcript": "XM_047418631.1",
"protein_id": "XP_047274587.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 364,
"cds_start": 506,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.820-6436C>T",
"hgvs_p": null,
"transcript": "NM_001382634.1",
"protein_id": "NP_001369563.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": -4,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"dbsnp": "rs142553916",
"frequency_reference_population": 0.0015046876,
"hom_count_reference_population": 7,
"allele_count_reference_population": 2428,
"gnomad_exomes_af": 0.00153287,
"gnomad_genomes_af": 0.00123429,
"gnomad_exomes_ac": 2240,
"gnomad_genomes_ac": 188,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27639830112457275,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.572,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7737,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.38,
"phylop100way_prediction": "Pathogenic",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000355773.6",
"gene_symbol": "SLC17A5",
"hgnc_id": 10933,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.899C>T",
"hgvs_p": "p.Ser300Phe"
}
],
"clinvar_disease": " severe infantile type,Enhanced S-cone syndrome,Familial hypokalemia-hypomagnesemia,Inborn genetic diseases,Salla disease,Sialic acid storage disease,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:12 LB:2",
"phenotype_combined": "not provided|Salla disease|Sialic acid storage disease, severe infantile type;Salla disease|Familial hypokalemia-hypomagnesemia|Inborn genetic diseases|Sialic acid storage disease, severe infantile type|Enhanced S-cone syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}