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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: 19-46775563-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46775563&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 46775563,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005628.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"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.1573C>G",
"hgvs_p": "p.Arg525Gly",
"transcript": "NM_005628.3",
"protein_id": "NP_005619.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 541,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": "ENST00000542575.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005628.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1573C>G",
"hgvs_p": "p.Arg525Gly",
"transcript": "ENST00000542575.6",
"protein_id": "ENSP00000444408.1",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 541,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": "NM_005628.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542575.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1591C>G",
"hgvs_p": "p.Arg531Gly",
"transcript": "ENST00000926641.1",
"protein_id": "ENSP00000596700.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 547,
"cds_start": 1591,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 2243,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926641.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1570C>G",
"hgvs_p": "p.Arg524Gly",
"transcript": "ENST00000891611.1",
"protein_id": "ENSP00000561670.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 540,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 2600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891611.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1438C>G",
"hgvs_p": "p.Arg480Gly",
"transcript": "ENST00000926642.1",
"protein_id": "ENSP00000596701.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 496,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 2067,
"cdna_end": null,
"cdna_length": 2747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926642.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1357C>G",
"hgvs_p": "p.Arg453Gly",
"transcript": "ENST00000926643.1",
"protein_id": "ENSP00000596702.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 469,
"cds_start": 1357,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926643.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1339C>G",
"hgvs_p": "p.Arg447Gly",
"transcript": "ENST00000891610.1",
"protein_id": "ENSP00000561669.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 463,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891610.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.1045C>G",
"hgvs_p": "p.Arg349Gly",
"transcript": "ENST00000594991.5",
"protein_id": "ENSP00000469265.1",
"transcript_support_level": 2,
"aa_start": 349,
"aa_end": null,
"aa_length": 365,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594991.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.967C>G",
"hgvs_p": "p.Arg323Gly",
"transcript": "NM_001145145.2",
"protein_id": "NP_001138617.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 339,
"cds_start": 967,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145145.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.967C>G",
"hgvs_p": "p.Arg323Gly",
"transcript": "ENST00000434726.6",
"protein_id": "ENSP00000406532.1",
"transcript_support_level": 2,
"aa_start": 323,
"aa_end": null,
"aa_length": 339,
"cds_start": 967,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 1872,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434726.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.889C>G",
"hgvs_p": "p.Arg297Gly",
"transcript": "NM_001145144.2",
"protein_id": "NP_001138616.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 313,
"cds_start": 889,
"cds_end": null,
"cds_length": 942,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145144.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.889C>G",
"hgvs_p": "p.Arg297Gly",
"transcript": "ENST00000412532.6",
"protein_id": "ENSP00000397924.1",
"transcript_support_level": 2,
"aa_start": 297,
"aa_end": null,
"aa_length": 313,
"cds_start": 889,
"cds_end": null,
"cds_length": 942,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 1750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412532.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.889C>G",
"hgvs_p": "p.Arg297Gly",
"transcript": "ENST00000593713.2",
"protein_id": "ENSP00000468890.2",
"transcript_support_level": 3,
"aa_start": 297,
"aa_end": null,
"aa_length": 313,
"cds_start": 889,
"cds_end": null,
"cds_length": 942,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593713.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.889C>G",
"hgvs_p": "p.Arg297Gly",
"transcript": "ENST00000598022.2",
"protein_id": "ENSP00000471626.2",
"transcript_support_level": 3,
"aa_start": 297,
"aa_end": null,
"aa_length": 313,
"cds_start": 889,
"cds_end": null,
"cds_length": 942,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 1384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598022.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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.889C>G",
"hgvs_p": "p.Arg297Gly",
"transcript": "ENST00000713951.1",
"protein_id": "ENSP00000519244.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 313,
"cds_start": 889,
"cds_end": null,
"cds_length": 942,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1739,
"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.248-1089G>C",
"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": 584,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000600646.5"
}
],
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"dbsnp": "rs571662416",
"frequency_reference_population": 6.840797e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8408e-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": 0.10760137438774109,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.116,
"revel_prediction": "Benign",
"alphamissense_score": 0.0669,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.256,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005628.3",
"gene_symbol": "SLC1A5",
"hgnc_id": 10943,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1573C>G",
"hgvs_p": "p.Arg525Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000600646.5",
"gene_symbol": "FKRP",
"hgnc_id": 17997,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.248-1089G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}