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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: 12-131753205-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=131753205&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 131753205,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000261674.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFSWAP",
"gene_hgnc_id": 10790,
"hgvs_c": "c.1164C>A",
"hgvs_p": "p.Asp388Glu",
"transcript": "NM_004592.4",
"protein_id": "NP_004583.2",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 951,
"cds_start": 1164,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 3246,
"mane_select": "ENST00000261674.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFSWAP",
"gene_hgnc_id": 10790,
"hgvs_c": "c.1164C>A",
"hgvs_p": "p.Asp388Glu",
"transcript": "ENST00000261674.9",
"protein_id": "ENSP00000261674.4",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 951,
"cds_start": 1164,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 3246,
"mane_select": "NM_004592.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFSWAP",
"gene_hgnc_id": 10790,
"hgvs_c": "c.1164C>A",
"hgvs_p": "p.Asp388Glu",
"transcript": "ENST00000541286.5",
"protein_id": "ENSP00000437738.1",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 1003,
"cds_start": 1164,
"cds_end": null,
"cds_length": 3012,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFSWAP",
"gene_hgnc_id": 10790,
"hgvs_c": "n.4498C>A",
"hgvs_p": null,
"transcript": "ENST00000535236.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFSWAP",
"gene_hgnc_id": 10790,
"hgvs_c": "c.1164C>A",
"hgvs_p": "p.Asp388Glu",
"transcript": "NM_001261411.2",
"protein_id": "NP_001248340.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 1003,
"cds_start": 1164,
"cds_end": null,
"cds_length": 3012,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFSWAP",
"gene_hgnc_id": 10790,
"hgvs_c": "c.81C>A",
"hgvs_p": "p.Asp27Glu",
"transcript": "ENST00000537164.1",
"protein_id": "ENSP00000439957.1",
"transcript_support_level": 5,
"aa_start": 27,
"aa_end": null,
"aa_length": 318,
"cds_start": 81,
"cds_end": null,
"cds_length": 959,
"cdna_start": 83,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFSWAP",
"gene_hgnc_id": 10790,
"hgvs_c": "c.1164C>A",
"hgvs_p": "p.Asp388Glu",
"transcript": "XM_011538653.1",
"protein_id": "XP_011536955.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 926,
"cds_start": 1164,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFSWAP",
"gene_hgnc_id": 10790,
"hgvs_c": "c.786C>A",
"hgvs_p": "p.Asp262Glu",
"transcript": "XM_024449125.1",
"protein_id": "XP_024304893.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 877,
"cds_start": 786,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 3880,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFSWAP",
"gene_hgnc_id": 10790,
"hgvs_c": "c.1164C>A",
"hgvs_p": "p.Asp388Glu",
"transcript": "XM_017019798.1",
"protein_id": "XP_016875287.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 874,
"cds_start": 1164,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFSWAP",
"gene_hgnc_id": 10790,
"hgvs_c": "c.1164C>A",
"hgvs_p": "p.Asp388Glu",
"transcript": "XM_011538655.3",
"protein_id": "XP_011536957.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 834,
"cds_start": 1164,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 5072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFSWAP",
"gene_hgnc_id": 10790,
"hgvs_c": "c.786C>A",
"hgvs_p": "p.Asp262Glu",
"transcript": "XM_047429327.1",
"protein_id": "XP_047285283.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 825,
"cds_start": 786,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 3880,
"cdna_end": null,
"cdna_length": 5822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFSWAP",
"gene_hgnc_id": 10790,
"hgvs_c": "c.786C>A",
"hgvs_p": "p.Asp262Glu",
"transcript": "XM_047429328.1",
"protein_id": "XP_047285284.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 800,
"cds_start": 786,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 3880,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFSWAP",
"gene_hgnc_id": 10790,
"hgvs_c": "n.283C>A",
"hgvs_p": null,
"transcript": "ENST00000535202.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFSWAP",
"gene_hgnc_id": 10790,
"hgvs_c": "n.*751C>A",
"hgvs_p": null,
"transcript": "ENST00000538548.5",
"protein_id": "ENSP00000445832.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SFSWAP",
"gene_hgnc_id": 10790,
"hgvs_c": "n.*751C>A",
"hgvs_p": null,
"transcript": "ENST00000538548.5",
"protein_id": "ENSP00000445832.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SFSWAP",
"gene_hgnc_id": 10790,
"dbsnp": "rs1051219",
"frequency_reference_population": 6.8404785e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84048e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3535134494304657,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.182,
"revel_prediction": "Benign",
"alphamissense_score": 0.2931,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.057,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000261674.9",
"gene_symbol": "SFSWAP",
"hgnc_id": 10790,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1164C>A",
"hgvs_p": "p.Asp388Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}