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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: 2-218362762-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218362762&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218362762,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001320865.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Pro164Ser",
"transcript": "NM_198559.2",
"protein_id": "NP_940961.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 387,
"cds_start": 490,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000289388.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198559.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Pro164Ser",
"transcript": "ENST00000289388.4",
"protein_id": "ENSP00000289388.3",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 387,
"cds_start": 490,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198559.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289388.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Pro175Ser",
"transcript": "NM_001320865.2",
"protein_id": "NP_001307794.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 398,
"cds_start": 523,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320865.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Pro175Ser",
"transcript": "ENST00000851696.1",
"protein_id": "ENSP00000521755.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 398,
"cds_start": 523,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851696.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Pro133Ser",
"transcript": "ENST00000851694.1",
"protein_id": "ENSP00000521753.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 356,
"cds_start": 397,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851694.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Pro133Ser",
"transcript": "XM_005246539.5",
"protein_id": "XP_005246596.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 356,
"cds_start": 397,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246539.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Pro66Ser",
"transcript": "XM_005246541.5",
"protein_id": "XP_005246598.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 289,
"cds_start": 196,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246541.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Pro49Ser",
"transcript": "XM_011511149.3",
"protein_id": "XP_011509451.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 272,
"cds_start": 145,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511149.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Pro49Ser",
"transcript": "XM_011511150.3",
"protein_id": "XP_011509452.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 272,
"cds_start": 145,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511150.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.496-1866C>T",
"hgvs_p": null,
"transcript": "ENST00000851695.1",
"protein_id": "ENSP00000521754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": null,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851695.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.463-1866C>T",
"hgvs_p": null,
"transcript": "ENST00000851693.1",
"protein_id": "ENSP00000521752.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": null,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851693.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.169-1866C>T",
"hgvs_p": null,
"transcript": "ENST00000715906.1",
"protein_id": "ENSP00000520539.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": null,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "c.496-1866C>T",
"hgvs_p": null,
"transcript": "XM_011511148.3",
"protein_id": "XP_011509450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": null,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511148.3"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"hgvs_c": "n.226+2103C>T",
"hgvs_p": null,
"transcript": "ENST00000481940.2",
"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": "ENST00000481940.2"
}
],
"gene_symbol": "CATIP",
"gene_hgnc_id": 25062,
"dbsnp": "rs1028839934",
"frequency_reference_population": 0.0000013681257,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136813,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08634912967681885,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.1125,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.012,
"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": 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_001320865.2",
"gene_symbol": "CATIP",
"hgnc_id": 25062,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Pro175Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}