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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: 3-183020177-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183020177&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 183020177,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000265594.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.1930G>T",
"hgvs_p": "p.Glu644*",
"transcript": "NM_020166.5",
"protein_id": "NP_064551.3",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 725,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": "ENST00000265594.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.1930G>T",
"hgvs_p": "p.Glu644*",
"transcript": "ENST00000265594.9",
"protein_id": "ENSP00000265594.4",
"transcript_support_level": 1,
"aa_start": 644,
"aa_end": null,
"aa_length": 725,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": "NM_020166.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.1603G>T",
"hgvs_p": "p.Glu535*",
"transcript": "ENST00000492597.5",
"protein_id": "ENSP00000419898.1",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 616,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 2774,
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.*1527G>T",
"hgvs_p": null,
"transcript": "ENST00000497830.5",
"protein_id": "ENSP00000420088.1",
"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": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.*1527G>T",
"hgvs_p": null,
"transcript": "ENST00000497830.5",
"protein_id": "ENSP00000420088.1",
"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": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.1603G>T",
"hgvs_p": "p.Glu535*",
"transcript": "NM_001363880.1",
"protein_id": "NP_001350809.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 616,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.1579G>T",
"hgvs_p": "p.Glu527*",
"transcript": "NM_001293273.2",
"protein_id": "NP_001280202.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 608,
"cds_start": 1579,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.1789G>T",
"hgvs_p": "p.Glu597*",
"transcript": "ENST00000476176.5",
"protein_id": "ENSP00000420433.1",
"transcript_support_level": 2,
"aa_start": 597,
"aa_end": null,
"aa_length": 597,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1796,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.1879G>T",
"hgvs_p": "p.Glu627*",
"transcript": "XM_047448586.1",
"protein_id": "XP_047304542.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 708,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 2564,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.1816G>T",
"hgvs_p": "p.Glu606*",
"transcript": "XM_011512992.3",
"protein_id": "XP_011511294.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 687,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2597,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.1603G>T",
"hgvs_p": "p.Glu535*",
"transcript": "XM_047448588.1",
"protein_id": "XP_047304544.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 616,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.1603G>T",
"hgvs_p": "p.Glu535*",
"transcript": "XM_047448589.1",
"protein_id": "XP_047304545.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 616,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 2147,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.362G>T",
"hgvs_p": null,
"transcript": "ENST00000464601.5",
"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": 759,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.*1461G>T",
"hgvs_p": null,
"transcript": "ENST00000495767.5",
"protein_id": "ENSP00000419658.1",
"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": 1860,
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.*391G>T",
"hgvs_p": null,
"transcript": "ENST00000497959.5",
"protein_id": "ENSP00000420648.1",
"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": 2874,
"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": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.1703G>T",
"hgvs_p": null,
"transcript": "NR_120639.2",
"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": 2171,
"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": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.2477G>T",
"hgvs_p": null,
"transcript": "NR_120640.2",
"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": 2945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "c.*294G>T",
"hgvs_p": null,
"transcript": "ENST00000629669.2",
"protein_id": "ENSP00000486824.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.*1461G>T",
"hgvs_p": null,
"transcript": "ENST00000495767.5",
"protein_id": "ENSP00000419658.1",
"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": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"hgvs_c": "n.*391G>T",
"hgvs_p": null,
"transcript": "ENST00000497959.5",
"protein_id": "ENSP00000420648.1",
"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": 2874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MCCC1",
"gene_hgnc_id": 6936,
"dbsnp": "rs905321122",
"frequency_reference_population": 0.000011152237,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.00000957722,
"gnomad_genomes_af": 0.0000262771,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38999998569488525,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.27000001072883606,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.378,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.27,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000265594.9",
"gene_symbol": "MCCC1",
"hgnc_id": 6936,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1930G>T",
"hgvs_p": "p.Glu644*"
}
],
"clinvar_disease": "3-methylcrotonyl-CoA carboxylase 1 deficiency,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "not provided|3-methylcrotonyl-CoA carboxylase 1 deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}