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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: 5-132327369-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132327369&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC22A4",
"hgnc_id": 10968,
"hgvs_c": "c.917T>C",
"hgvs_p": "p.Ile306Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_003059.3",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MIR3936HG",
"hgnc_id": 40538,
"hgvs_c": "n.824+4820A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000621103.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 976157,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0954,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "5",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.000002293587158419541,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 551,
"aa_ref": "I",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1656,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_003059.3",
"gene_hgnc_id": 10968,
"gene_symbol": "SLC22A4",
"hgvs_c": "c.917T>C",
"hgvs_p": "p.Ile306Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000200652.4",
"protein_coding": true,
"protein_id": "NP_003050.2",
"strand": true,
"transcript": "NM_003059.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 551,
"aa_ref": "I",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1656,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000200652.4",
"gene_hgnc_id": 10968,
"gene_symbol": "SLC22A4",
"hgvs_c": "c.917T>C",
"hgvs_p": "p.Ile306Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003059.3",
"protein_coding": true,
"protein_id": "ENSP00000200652.3",
"strand": true,
"transcript": "ENST00000200652.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000621103.4",
"gene_hgnc_id": 40538,
"gene_symbol": "MIR3936HG",
"hgvs_c": "n.824+4820A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000621103.4",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 557,
"aa_ref": "I",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1674,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000947750.1",
"gene_hgnc_id": 10968,
"gene_symbol": "SLC22A4",
"hgvs_c": "c.917T>C",
"hgvs_p": "p.Ile306Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617809.1",
"strand": true,
"transcript": "ENST00000947750.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 549,
"aa_ref": "I",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1650,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897525.1",
"gene_hgnc_id": 10968,
"gene_symbol": "SLC22A4",
"hgvs_c": "c.911T>C",
"hgvs_p": "p.Ile304Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567584.1",
"strand": true,
"transcript": "ENST00000897525.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 540,
"aa_ref": "I",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 1623,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897523.1",
"gene_hgnc_id": 10968,
"gene_symbol": "SLC22A4",
"hgvs_c": "c.917T>C",
"hgvs_p": "p.Ile306Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567582.1",
"strand": true,
"transcript": "ENST00000897523.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 535,
"aa_ref": "I",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2186,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1608,
"cds_start": 869,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000947748.1",
"gene_hgnc_id": 10968,
"gene_symbol": "SLC22A4",
"hgvs_c": "c.869T>C",
"hgvs_p": "p.Ile290Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617807.1",
"strand": true,
"transcript": "ENST00000947748.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 528,
"aa_ref": "I",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1587,
"cds_start": 848,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897524.1",
"gene_hgnc_id": 10968,
"gene_symbol": "SLC22A4",
"hgvs_c": "c.848T>C",
"hgvs_p": "p.Ile283Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567583.1",
"strand": true,
"transcript": "ENST00000897524.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 490,
"aa_ref": "I",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2014,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1473,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000947749.1",
"gene_hgnc_id": 10968,
"gene_symbol": "SLC22A4",
"hgvs_c": "c.917T>C",
"hgvs_p": "p.Ile306Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617808.1",
"strand": true,
"transcript": "ENST00000947749.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 459,
"aa_ref": "I",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1969,
"cdna_start": 878,
"cds_end": null,
"cds_length": 1380,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000947747.1",
"gene_hgnc_id": 10968,
"gene_symbol": "SLC22A4",
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Ile214Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617806.1",
"strand": true,
"transcript": "ENST00000947747.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 491,
"aa_ref": "I",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1788,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1476,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047417594.1",
"gene_hgnc_id": 10968,
"gene_symbol": "SLC22A4",
"hgvs_c": "c.917T>C",
"hgvs_p": "p.Ile306Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273550.1",
"strand": true,
"transcript": "XM_047417594.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 459,
"aa_ref": "I",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": 864,
"cds_end": null,
"cds_length": 1380,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011543589.3",
"gene_hgnc_id": 10968,
"gene_symbol": "SLC22A4",
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Ile214Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541891.1",
"strand": true,
"transcript": "XM_011543589.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 375,
"aa_ref": "I",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 1128,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006714675.5",
"gene_hgnc_id": 10968,
"gene_symbol": "SLC22A4",
"hgvs_c": "c.389T>C",
"hgvs_p": "p.Ile130Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006714738.1",
"strand": true,
"transcript": "XM_006714675.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 375,
"aa_ref": "I",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": 727,
"cds_end": null,
"cds_length": 1128,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017009776.2",
"gene_hgnc_id": 10968,
"gene_symbol": "SLC22A4",
"hgvs_c": "c.389T>C",
"hgvs_p": "p.Ile130Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865265.1",
"strand": true,
"transcript": "XM_017009776.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 365,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": null,
"cds_end": null,
"cds_length": 1098,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897522.1",
"gene_hgnc_id": 10968,
"gene_symbol": "SLC22A4",
"hgvs_c": "c.394-4387T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567581.1",
"strand": true,
"transcript": "ENST00000897522.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 463,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000425923.1",
"gene_hgnc_id": 10968,
"gene_symbol": "SLC22A4",
"hgvs_c": "n.447T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000425923.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1181,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000669845.1",
"gene_hgnc_id": 40538,
"gene_symbol": "MIR3936HG",
"hgvs_c": "n.450+4820A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000669845.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1802,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_110997.1",
"gene_hgnc_id": 40538,
"gene_symbol": "MIR3936HG",
"hgvs_c": "n.824+4820A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_110997.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs272893",
"effect": "missense_variant",
"frequency_reference_population": 0.6063313,
"gene_hgnc_id": 10968,
"gene_symbol": "SLC22A4",
"gnomad_exomes_ac": 880532,
"gnomad_exomes_af": 0.604008,
"gnomad_exomes_homalt": 271485,
"gnomad_genomes_ac": 95625,
"gnomad_genomes_af": 0.628599,
"gnomad_genomes_homalt": 30893,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 302378,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.299,
"pos": 132327369,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.137,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_003059.3"
}
]
}