← Back to variant description
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: 22-19176466-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19176466&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19176466,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001256534.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.776C>G",
"hgvs_p": "p.Thr259Arg",
"transcript": "NM_005984.5",
"protein_id": "NP_005975.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 311,
"cds_start": 776,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000215882.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005984.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.776C>G",
"hgvs_p": "p.Thr259Arg",
"transcript": "ENST00000215882.10",
"protein_id": "ENSP00000215882.5",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 311,
"cds_start": 776,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005984.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215882.10"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.815C>G",
"hgvs_p": "p.Thr272Arg",
"transcript": "ENST00000880508.1",
"protein_id": "ENSP00000550567.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 324,
"cds_start": 815,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880508.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.797C>G",
"hgvs_p": "p.Thr266Arg",
"transcript": "NM_001256534.2",
"protein_id": "NP_001243463.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 318,
"cds_start": 797,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256534.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.785C>G",
"hgvs_p": "p.Thr262Arg",
"transcript": "ENST00000880513.1",
"protein_id": "ENSP00000550572.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 314,
"cds_start": 785,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880513.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.779C>G",
"hgvs_p": "p.Thr260Arg",
"transcript": "ENST00000880511.1",
"protein_id": "ENSP00000550570.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 312,
"cds_start": 779,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880511.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.755C>G",
"hgvs_p": "p.Thr252Arg",
"transcript": "ENST00000880509.1",
"protein_id": "ENSP00000550568.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 304,
"cds_start": 755,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880509.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.725C>G",
"hgvs_p": "p.Thr242Arg",
"transcript": "ENST00000880512.1",
"protein_id": "ENSP00000550571.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 294,
"cds_start": 725,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880512.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.716C>G",
"hgvs_p": "p.Thr239Arg",
"transcript": "ENST00000880510.1",
"protein_id": "ENSP00000550569.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 291,
"cds_start": 716,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880510.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.662C>G",
"hgvs_p": "p.Thr221Arg",
"transcript": "ENST00000923188.1",
"protein_id": "ENSP00000593247.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 273,
"cds_start": 662,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923188.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.467C>G",
"hgvs_p": "p.Thr156Arg",
"transcript": "NM_001287387.2",
"protein_id": "NP_001274316.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 208,
"cds_start": 467,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287387.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "c.467C>G",
"hgvs_p": "p.Thr156Arg",
"transcript": "ENST00000451283.5",
"protein_id": "ENSP00000401480.1",
"transcript_support_level": 2,
"aa_start": 156,
"aa_end": null,
"aa_length": 208,
"cds_start": 467,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451283.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "n.918C>G",
"hgvs_p": null,
"transcript": "ENST00000470922.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000470922.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "n.700C>G",
"hgvs_p": null,
"transcript": "NR_046298.3",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_046298.3"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC01311",
"gene_hgnc_id": 50503,
"hgvs_c": "n.303+4442G>C",
"hgvs_p": null,
"transcript": "ENST00000804544.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000804544.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"hgvs_c": "n.*201C>G",
"hgvs_p": null,
"transcript": "ENST00000461267.1",
"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": "ENST00000461267.1"
}
],
"gene_symbol": "SLC25A1",
"gene_hgnc_id": 10979,
"dbsnp": "rs782004176",
"frequency_reference_population": 0.000009295259,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000957882,
"gnomad_genomes_af": 0.00000657168,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9771950244903564,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5299999713897705,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.809,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9809,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.544,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.53,
"spliceai_max_prediction": "Pathogenic",
"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": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001256534.2",
"gene_symbol": "SLC25A1",
"hgnc_id": 10979,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.797C>G",
"hgvs_p": "p.Thr266Arg"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000804544.1",
"gene_symbol": "LINC01311",
"hgnc_id": 50503,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.303+4442G>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
}