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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: 19-46775731-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46775731&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 46775731,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005628.3",
"consequences": [
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Val469Ile",
"transcript": "NM_005628.3",
"protein_id": "NP_005619.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 541,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000542575.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005628.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Val469Ile",
"transcript": "ENST00000542575.6",
"protein_id": "ENSP00000444408.1",
"transcript_support_level": 1,
"aa_start": 469,
"aa_end": null,
"aa_length": 541,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005628.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542575.6"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.1423G>A",
"hgvs_p": "p.Val475Ile",
"transcript": "ENST00000926641.1",
"protein_id": "ENSP00000596700.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 547,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926641.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.1402G>A",
"hgvs_p": "p.Val468Ile",
"transcript": "ENST00000891611.1",
"protein_id": "ENSP00000561670.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 540,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891611.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Val424Ile",
"transcript": "ENST00000926642.1",
"protein_id": "ENSP00000596701.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 496,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926642.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Val397Ile",
"transcript": "ENST00000926643.1",
"protein_id": "ENSP00000596702.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 469,
"cds_start": 1189,
"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": "ENST00000926643.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Val391Ile",
"transcript": "ENST00000891610.1",
"protein_id": "ENSP00000561669.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 463,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891610.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Val293Ile",
"transcript": "ENST00000594991.5",
"protein_id": "ENSP00000469265.1",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 365,
"cds_start": 877,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594991.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Ile",
"transcript": "NM_001145145.2",
"protein_id": "NP_001138617.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 339,
"cds_start": 799,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145145.2"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Ile",
"transcript": "ENST00000434726.6",
"protein_id": "ENSP00000406532.1",
"transcript_support_level": 2,
"aa_start": 267,
"aa_end": null,
"aa_length": 339,
"cds_start": 799,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434726.6"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Val241Ile",
"transcript": "NM_001145144.2",
"protein_id": "NP_001138616.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 313,
"cds_start": 721,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145144.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Val241Ile",
"transcript": "ENST00000412532.6",
"protein_id": "ENSP00000397924.1",
"transcript_support_level": 2,
"aa_start": 241,
"aa_end": null,
"aa_length": 313,
"cds_start": 721,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412532.6"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Val241Ile",
"transcript": "ENST00000593713.2",
"protein_id": "ENSP00000468890.2",
"transcript_support_level": 3,
"aa_start": 241,
"aa_end": null,
"aa_length": 313,
"cds_start": 721,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593713.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Val241Ile",
"transcript": "ENST00000598022.2",
"protein_id": "ENSP00000471626.2",
"transcript_support_level": 3,
"aa_start": 241,
"aa_end": null,
"aa_length": 313,
"cds_start": 721,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598022.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Val241Ile",
"transcript": "ENST00000713951.1",
"protein_id": "ENSP00000519244.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 313,
"cds_start": 721,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713951.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FKRP",
"gene_hgnc_id": 17997,
"hgvs_c": "n.248-921C>T",
"hgvs_p": null,
"transcript": "ENST00000600646.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000600646.5"
}
],
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"dbsnp": "rs151005563",
"frequency_reference_population": 0.00013014798,
"hom_count_reference_population": 0,
"allele_count_reference_population": 210,
"gnomad_exomes_af": 0.0000992121,
"gnomad_genomes_af": 0.000427542,
"gnomad_exomes_ac": 145,
"gnomad_genomes_ac": 65,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.033115535974502563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.0696,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.453,
"phylop100way_prediction": "Benign",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_005628.3",
"gene_symbol": "SLC1A5",
"hgnc_id": 10943,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Val469Ile"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000600646.5",
"gene_symbol": "FKRP",
"hgnc_id": 17997,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.248-921C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}