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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: 3-3153974-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=3153974&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 3153974,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000231948.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.937G>C",
"hgvs_p": "p.Asp313His",
"transcript": "NM_016302.4",
"protein_id": "NP_057386.2",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 442,
"cds_start": 937,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": "ENST00000231948.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.937G>C",
"hgvs_p": "p.Asp313His",
"transcript": "ENST00000231948.9",
"protein_id": "ENSP00000231948.4",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 442,
"cds_start": 937,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": "NM_016302.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.934G>C",
"hgvs_p": "p.Asp312His",
"transcript": "ENST00000432408.6",
"protein_id": "ENSP00000412499.2",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 441,
"cds_start": 934,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "n.2811G>C",
"hgvs_p": null,
"transcript": "ENST00000488263.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 4528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "n.2892G>C",
"hgvs_p": null,
"transcript": "ENST00000491834.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 5628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.937G>C",
"hgvs_p": "p.Asp313His",
"transcript": "ENST00000639284.1",
"protein_id": "ENSP00000491442.1",
"transcript_support_level": 5,
"aa_start": 313,
"aa_end": null,
"aa_length": 490,
"cds_start": 937,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.934G>C",
"hgvs_p": "p.Asp312His",
"transcript": "NM_001173482.1",
"protein_id": "NP_001166953.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 441,
"cds_start": 934,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.922G>C",
"hgvs_p": "p.Asp308His",
"transcript": "ENST00000424814.5",
"protein_id": "ENSP00000411047.1",
"transcript_support_level": 5,
"aa_start": 308,
"aa_end": null,
"aa_length": 393,
"cds_start": 922,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.937G>C",
"hgvs_p": "p.Asp313His",
"transcript": "XM_011533791.4",
"protein_id": "XP_011532093.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 398,
"cds_start": 937,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.748G>C",
"hgvs_p": "p.Asp250His",
"transcript": "XM_005265202.5",
"protein_id": "XP_005265259.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 379,
"cds_start": 748,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.445G>C",
"hgvs_p": "p.Asp149His",
"transcript": "XM_047448254.1",
"protein_id": "XP_047304210.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 278,
"cds_start": 445,
"cds_end": null,
"cds_length": 837,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "n.326G>C",
"hgvs_p": null,
"transcript": "ENST00000459840.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "n.219G>C",
"hgvs_p": null,
"transcript": "ENST00000498442.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"hgvs_c": "c.836-486G>C",
"hgvs_p": null,
"transcript": "XM_047448253.1",
"protein_id": "XP_047304209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 284,
"cds_start": -4,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRBN",
"gene_hgnc_id": 30185,
"dbsnp": "rs142337178",
"frequency_reference_population": 0.00019679284,
"hom_count_reference_population": 0,
"allele_count_reference_population": 315,
"gnomad_exomes_af": 0.000207116,
"gnomad_genomes_af": 0.0000985519,
"gnomad_exomes_ac": 300,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.291761577129364,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.298,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6697,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.729,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS1_Supporting",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000231948.9",
"gene_symbol": "CRBN",
"hgnc_id": 30185,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.937G>C",
"hgvs_p": "p.Asp313His"
}
],
"clinvar_disease": "Intellectual disability,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Intellectual disability|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}