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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: 19-46777299-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46777299&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 46777299,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005628.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Gly389Arg",
"transcript": "NM_005628.3",
"protein_id": "NP_005619.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 541,
"cds_start": 1165,
"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": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Gly389Arg",
"transcript": "ENST00000542575.6",
"protein_id": "ENSP00000444408.1",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 541,
"cds_start": 1165,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.1183G>C",
"hgvs_p": "p.Gly395Arg",
"transcript": "ENST00000926641.1",
"protein_id": "ENSP00000596700.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 547,
"cds_start": 1183,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.1162G>C",
"hgvs_p": "p.Gly388Arg",
"transcript": "ENST00000891611.1",
"protein_id": "ENSP00000561670.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 540,
"cds_start": 1162,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Gly389Arg",
"transcript": "ENST00000926642.1",
"protein_id": "ENSP00000596701.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 496,
"cds_start": 1165,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.949G>C",
"hgvs_p": "p.Gly317Arg",
"transcript": "ENST00000926643.1",
"protein_id": "ENSP00000596702.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 469,
"cds_start": 949,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.931G>C",
"hgvs_p": "p.Gly311Arg",
"transcript": "ENST00000891610.1",
"protein_id": "ENSP00000561669.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 463,
"cds_start": 931,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.637G>C",
"hgvs_p": "p.Gly213Arg",
"transcript": "ENST00000594991.5",
"protein_id": "ENSP00000469265.1",
"transcript_support_level": 2,
"aa_start": 213,
"aa_end": null,
"aa_length": 365,
"cds_start": 637,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.559G>C",
"hgvs_p": "p.Gly187Arg",
"transcript": "NM_001145145.2",
"protein_id": "NP_001138617.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 339,
"cds_start": 559,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.559G>C",
"hgvs_p": "p.Gly187Arg",
"transcript": "ENST00000434726.6",
"protein_id": "ENSP00000406532.1",
"transcript_support_level": 2,
"aa_start": 187,
"aa_end": null,
"aa_length": 339,
"cds_start": 559,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "NM_001145144.2",
"protein_id": "NP_001138616.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 313,
"cds_start": 481,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "ENST00000412532.6",
"protein_id": "ENSP00000397924.1",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 313,
"cds_start": 481,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "ENST00000593713.2",
"protein_id": "ENSP00000468890.2",
"transcript_support_level": 3,
"aa_start": 161,
"aa_end": null,
"aa_length": 313,
"cds_start": 481,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "ENST00000598022.2",
"protein_id": "ENSP00000471626.2",
"transcript_support_level": 3,
"aa_start": 161,
"aa_end": null,
"aa_length": 313,
"cds_start": 481,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"hgvs_c": "c.481G>C",
"hgvs_p": "p.Gly161Arg",
"transcript": "ENST00000713951.1",
"protein_id": "ENSP00000519244.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 313,
"cds_start": 481,
"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"
}
],
"gene_symbol": "SLC1A5",
"gene_hgnc_id": 10943,
"dbsnp": "rs1277328170",
"frequency_reference_population": 0.0000054738807,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547388,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9932305812835693,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.906,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9841,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.884,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005628.3",
"gene_symbol": "SLC1A5",
"hgnc_id": 10943,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1165G>C",
"hgvs_p": "p.Gly389Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}