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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: 6-73621896-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=73621896&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 73621896,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000355773.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"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.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "NM_012434.5",
"protein_id": "NP_036566.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 495,
"cds_start": 886,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": "ENST00000355773.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "ENST00000355773.6",
"protein_id": "ENSP00000348019.5",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 495,
"cds_start": 886,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": "NM_012434.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "NM_001382633.1",
"protein_id": "NP_001369562.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 533,
"cds_start": 886,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.907G>A",
"hgvs_p": "p.Val303Ile",
"transcript": "NM_001382631.1",
"protein_id": "NP_001369560.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 502,
"cds_start": 907,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 3313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.883G>A",
"hgvs_p": "p.Val295Ile",
"transcript": "NM_001382635.1",
"protein_id": "NP_001369564.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 494,
"cds_start": 883,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 3289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "NM_001382630.1",
"protein_id": "NP_001369559.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 470,
"cds_start": 886,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.799G>A",
"hgvs_p": "p.Val267Ile",
"transcript": "NM_001382632.1",
"protein_id": "NP_001369561.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 466,
"cds_start": 799,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.655G>A",
"hgvs_p": "p.Val219Ile",
"transcript": "NM_001382629.1",
"protein_id": "NP_001369558.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 418,
"cds_start": 655,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 3095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.568G>A",
"hgvs_p": "p.Val190Ile",
"transcript": "NM_001382636.1",
"protein_id": "NP_001369565.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 389,
"cds_start": 568,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.886G>A",
"hgvs_p": "p.Val296Ile",
"transcript": "XM_047418630.1",
"protein_id": "XP_047274586.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 397,
"cds_start": 886,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.493G>A",
"hgvs_p": "p.Val165Ile",
"transcript": "XM_047418631.1",
"protein_id": "XP_047274587.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 364,
"cds_start": 493,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 507,
"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.820-6449G>A",
"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": "rs16883930",
"frequency_reference_population": 0.011707292,
"hom_count_reference_population": 463,
"allele_count_reference_population": 18894,
"gnomad_exomes_af": 0.0113663,
"gnomad_genomes_af": 0.0149806,
"gnomad_exomes_ac": 16613,
"gnomad_genomes_ac": 2281,
"gnomad_exomes_homalt": 406,
"gnomad_genomes_homalt": 57,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002281367778778076,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.199,
"revel_prediction": "Benign",
"alphamissense_score": 0.096,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.698,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000355773.6",
"gene_symbol": "SLC17A5",
"hgnc_id": 10933,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Val296Ile"
}
],
"clinvar_disease": " severe infantile type,Salla disease,Sialic acid storage disease,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:5",
"phenotype_combined": "not specified|Salla disease|Sialic acid storage disease, severe infantile type|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}