← 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: 6-73615425-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=73615425&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 73615425,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000355773.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.1001C>T",
"hgvs_p": "p.Pro334Leu",
"transcript": "NM_012434.5",
"protein_id": "NP_036566.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 495,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": "ENST00000355773.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.1001C>T",
"hgvs_p": "p.Pro334Leu",
"transcript": "ENST00000355773.6",
"protein_id": "ENSP00000348019.5",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 495,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": "NM_012434.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1001C>T",
"hgvs_p": "p.Pro334Leu",
"transcript": "NM_001382633.1",
"protein_id": "NP_001369562.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 533,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.1022C>T",
"hgvs_p": "p.Pro341Leu",
"transcript": "NM_001382631.1",
"protein_id": "NP_001369560.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 502,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 3313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Pro333Leu",
"transcript": "NM_001382635.1",
"protein_id": "NP_001369564.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 494,
"cds_start": 998,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 3289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.1001C>T",
"hgvs_p": "p.Pro334Leu",
"transcript": "NM_001382630.1",
"protein_id": "NP_001369559.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 470,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.914C>T",
"hgvs_p": "p.Pro305Leu",
"transcript": "NM_001382632.1",
"protein_id": "NP_001369561.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 466,
"cds_start": 914,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.842C>T",
"hgvs_p": "p.Pro281Leu",
"transcript": "NM_001382634.1",
"protein_id": "NP_001369563.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 442,
"cds_start": 842,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.770C>T",
"hgvs_p": "p.Pro257Leu",
"transcript": "NM_001382629.1",
"protein_id": "NP_001369558.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 418,
"cds_start": 770,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 3095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Pro228Leu",
"transcript": "NM_001382636.1",
"protein_id": "NP_001369565.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 389,
"cds_start": 683,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.1001C>T",
"hgvs_p": "p.Pro334Leu",
"transcript": "XM_047418630.1",
"protein_id": "XP_047274586.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 397,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Pro203Leu",
"transcript": "XM_047418631.1",
"protein_id": "XP_047274587.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 364,
"cds_start": 608,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC17A5",
"gene_hgnc_id": 10933,
"dbsnp": "rs119491110",
"frequency_reference_population": 0.000006582325,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000658233,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9549206495285034,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.713,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.929,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.8,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.2,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000355773.6",
"gene_symbol": "SLC17A5",
"hgnc_id": 10933,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1001C>T",
"hgvs_p": "p.Pro334Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}