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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: 2-36441284-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=36441284&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 36441284,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016441.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIM1",
"gene_hgnc_id": 2359,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "NM_016441.3",
"protein_id": "NP_057525.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 1036,
"cds_start": 532,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 6060,
"mane_select": "ENST00000280527.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIM1",
"gene_hgnc_id": 2359,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "ENST00000280527.7",
"protein_id": "ENSP00000280527.2",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 1036,
"cds_start": 532,
"cds_end": null,
"cds_length": 3111,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 6060,
"mane_select": "NM_016441.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIM1",
"gene_hgnc_id": 2359,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "ENST00000426856.1",
"protein_id": "ENSP00000407636.1",
"transcript_support_level": 3,
"aa_start": 70,
"aa_end": null,
"aa_length": 221,
"cds_start": 208,
"cds_end": null,
"cds_length": 667,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIM1",
"gene_hgnc_id": 2359,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "XM_011532898.4",
"protein_id": "XP_011531200.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 1077,
"cds_start": 655,
"cds_end": null,
"cds_length": 3234,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 6183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIM1",
"gene_hgnc_id": 2359,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "XM_011532899.4",
"protein_id": "XP_011531201.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 1012,
"cds_start": 655,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 5988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIM1",
"gene_hgnc_id": 2359,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219Cys",
"transcript": "XM_011532901.4",
"protein_id": "XP_011531203.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 1003,
"cds_start": 655,
"cds_end": null,
"cds_length": 3012,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 5961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIM1",
"gene_hgnc_id": 2359,
"hgvs_c": "c.358C>T",
"hgvs_p": "p.Arg120Cys",
"transcript": "XM_005264357.6",
"protein_id": "XP_005264414.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 978,
"cds_start": 358,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 5886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIM1",
"gene_hgnc_id": 2359,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "XM_017004259.2",
"protein_id": "XP_016859748.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 971,
"cds_start": 532,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 5865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIM1",
"gene_hgnc_id": 2359,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys",
"transcript": "XM_047444642.1",
"protein_id": "XP_047300598.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 962,
"cds_start": 532,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 5838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIM1",
"gene_hgnc_id": 2359,
"hgvs_c": "c.358C>T",
"hgvs_p": "p.Arg120Cys",
"transcript": "XM_047444643.1",
"protein_id": "XP_047300599.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 913,
"cds_start": 358,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIM1",
"gene_hgnc_id": 2359,
"hgvs_c": "c.358C>T",
"hgvs_p": "p.Arg120Cys",
"transcript": "XM_047444644.1",
"protein_id": "XP_047300600.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 904,
"cds_start": 358,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 5664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIM1",
"gene_hgnc_id": 2359,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Cys",
"transcript": "XM_024452948.2",
"protein_id": "XP_024308716.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 878,
"cds_start": 58,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 8509,
"cdna_end": null,
"cdna_length": 13522,
"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": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRIM1",
"gene_hgnc_id": 2359,
"hgvs_c": "n.1170C>T",
"hgvs_p": null,
"transcript": "XR_007076383.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CRIM1",
"gene_hgnc_id": 2359,
"hgvs_c": "c.629-1331C>T",
"hgvs_p": null,
"transcript": "XM_017004258.3",
"protein_id": "XP_016859747.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 996,
"cds_start": -4,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRIM1",
"gene_hgnc_id": 2359,
"hgvs_c": "c.506-1331C>T",
"hgvs_p": null,
"transcript": "XM_017004260.3",
"protein_id": "XP_016859749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 955,
"cds_start": -4,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRIM1",
"gene_hgnc_id": 2359,
"dbsnp": "rs1675801553",
"frequency_reference_population": 0.0000034202394,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342024,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4866712689399719,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.195,
"revel_prediction": "Benign",
"alphamissense_score": 0.9124,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.063,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_016441.3",
"gene_symbol": "CRIM1",
"hgnc_id": 2359,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Arg178Cys"
}
],
"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
}