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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: 6-73615410-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=73615410&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "SLC17A5",
"hgnc_id": 10933,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Trp339*",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_001382633.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.63,
"chr": "6",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Salla disease",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6299999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 495,
"aa_ref": "W",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3292,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1016,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_012434.5",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Trp339*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355773.6",
"protein_coding": true,
"protein_id": "NP_036566.1",
"strand": false,
"transcript": "NM_012434.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 495,
"aa_ref": "W",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3292,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1016,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000355773.6",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Trp339*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012434.5",
"protein_coding": true,
"protein_id": "ENSP00000348019.5",
"strand": false,
"transcript": "ENST00000355773.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 533,
"aa_ref": "W",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3390,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1016,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382633.1",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Trp339*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369562.1",
"strand": false,
"transcript": "NM_001382633.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 533,
"aa_ref": "W",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2761,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1130,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000957536.1",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Trp377*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627595.1",
"strand": false,
"transcript": "ENST00000957536.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 502,
"aa_ref": "W",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3313,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1037,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001382631.1",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Trp346*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369560.1",
"strand": false,
"transcript": "NM_001382631.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 494,
"aa_ref": "W",
"aa_start": 338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3289,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1013,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382635.1",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.1013G>A",
"hgvs_p": "p.Trp338*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369564.1",
"strand": false,
"transcript": "NM_001382635.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 470,
"aa_ref": "W",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3201,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1016,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382630.1",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Trp339*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369559.1",
"strand": false,
"transcript": "NM_001382630.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 469,
"aa_ref": "W",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3184,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1410,
"cds_start": 938,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000957535.1",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Trp313*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627594.1",
"strand": false,
"transcript": "ENST00000957535.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 466,
"aa_ref": "W",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3205,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1401,
"cds_start": 929,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001382632.1",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Trp310*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369561.1",
"strand": false,
"transcript": "NM_001382632.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 466,
"aa_ref": "W",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3200,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1401,
"cds_start": 929,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000908538.1",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Trp310*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578597.1",
"strand": false,
"transcript": "ENST00000908538.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 442,
"aa_ref": "W",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1329,
"cds_start": 857,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001382634.1",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Trp286*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369563.1",
"strand": false,
"transcript": "NM_001382634.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 442,
"aa_ref": "W",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 985,
"cds_end": null,
"cds_length": 1329,
"cds_start": 857,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000908537.1",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Trp286*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578596.1",
"strand": false,
"transcript": "ENST00000908537.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 418,
"aa_ref": "W",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3095,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1257,
"cds_start": 785,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001382629.1",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Trp262*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369558.1",
"strand": false,
"transcript": "NM_001382629.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 417,
"aa_ref": "W",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3061,
"cdna_start": 885,
"cds_end": null,
"cds_length": 1254,
"cds_start": 782,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000933630.1",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.782G>A",
"hgvs_p": "p.Trp261*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603689.1",
"strand": false,
"transcript": "ENST00000933630.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 389,
"aa_ref": "W",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1170,
"cds_start": 698,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001382636.1",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.698G>A",
"hgvs_p": "p.Trp233*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369565.1",
"strand": false,
"transcript": "NM_001382636.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 369,
"aa_ref": "W",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2903,
"cdna_start": 733,
"cds_end": null,
"cds_length": 1110,
"cds_start": 638,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000933631.1",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Trp213*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603690.1",
"strand": false,
"transcript": "ENST00000933631.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 397,
"aa_ref": "W",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1308,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1194,
"cds_start": 1016,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047418630.1",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Trp339*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274586.1",
"strand": false,
"transcript": "XM_047418630.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 364,
"aa_ref": "W",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 637,
"cds_end": null,
"cds_length": 1095,
"cds_start": 623,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047418631.1",
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Trp208*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274587.1",
"strand": false,
"transcript": "XM_047418631.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1057516910",
"effect": "stop_gained",
"frequency_reference_population": 0.0000080561,
"gene_hgnc_id": 10933,
"gene_symbol": "SLC17A5",
"gnomad_exomes_ac": 11,
"gnomad_exomes_af": 0.00000752537,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131612,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "Salla disease",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.201,
"pos": 73615410,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001382633.1"
}
]
}