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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: 19-17422412-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17422412&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 17422412,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138401.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVB12A",
"gene_hgnc_id": 25153,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "NM_138401.4",
"protein_id": "NP_612410.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 273,
"cds_start": 367,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317040.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138401.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVB12A",
"gene_hgnc_id": 25153,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "ENST00000317040.12",
"protein_id": "ENSP00000324810.6",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 273,
"cds_start": 367,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138401.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317040.12"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "MVB12A",
"gene_hgnc_id": 25153,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "ENST00000529939.5",
"protein_id": "ENSP00000432526.1",
"transcript_support_level": 3,
"aa_start": 123,
"aa_end": null,
"aa_length": 273,
"cds_start": 367,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529939.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVB12A",
"gene_hgnc_id": 25153,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "ENST00000919685.1",
"protein_id": "ENSP00000589744.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 240,
"cds_start": 268,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919685.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "MVB12A",
"gene_hgnc_id": 25153,
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp",
"transcript": "ENST00000875214.1",
"protein_id": "ENSP00000545273.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 233,
"cds_start": 367,
"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": "ENST00000875214.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVB12A",
"gene_hgnc_id": 25153,
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Arg31Trp",
"transcript": "NM_001304547.2",
"protein_id": "NP_001291476.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 181,
"cds_start": 91,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304547.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVB12A",
"gene_hgnc_id": 25153,
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Arg31Trp",
"transcript": "ENST00000528911.5",
"protein_id": "ENSP00000433280.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 120,
"cds_start": 91,
"cds_end": null,
"cds_length": 364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528911.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVB12A",
"gene_hgnc_id": 25153,
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Arg31Trp",
"transcript": "ENST00000600514.5",
"protein_id": "ENSP00000472288.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 120,
"cds_start": 91,
"cds_end": null,
"cds_length": 364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600514.5"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MVB12A",
"gene_hgnc_id": 25153,
"hgvs_c": "c.287-1022C>T",
"hgvs_p": null,
"transcript": "ENST00000875213.1",
"protein_id": "ENSP00000545272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": null,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875213.1"
},
{
"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": "MVB12A",
"gene_hgnc_id": 25153,
"hgvs_c": "c.287-1086C>T",
"hgvs_p": null,
"transcript": "ENST00000528515.5",
"protein_id": "ENSP00000433677.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528515.5"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "MVB12A",
"gene_hgnc_id": 25153,
"hgvs_c": "c.-4-1086C>T",
"hgvs_p": null,
"transcript": "ENST00000528604.5",
"protein_id": "ENSP00000435052.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": null,
"cds_end": null,
"cds_length": 401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528604.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVB12A",
"gene_hgnc_id": 25153,
"hgvs_c": "n.128C>T",
"hgvs_p": null,
"transcript": "ENST00000524382.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000524382.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVB12A",
"gene_hgnc_id": 25153,
"hgvs_c": "n.381C>T",
"hgvs_p": null,
"transcript": "ENST00000526234.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000526234.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVB12A",
"gene_hgnc_id": 25153,
"hgvs_c": "c.-33C>T",
"hgvs_p": null,
"transcript": "ENST00000594784.1",
"protein_id": "ENSP00000470611.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": null,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594784.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269481",
"gene_hgnc_id": null,
"hgvs_c": "n.-88G>A",
"hgvs_p": null,
"transcript": "ENST00000593957.1",
"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": "ENST00000593957.1"
}
],
"gene_symbol": "MVB12A",
"gene_hgnc_id": 25153,
"dbsnp": "rs375457160",
"frequency_reference_population": 0.00006135996,
"hom_count_reference_population": 0,
"allele_count_reference_population": 99,
"gnomad_exomes_af": 0.0000656905,
"gnomad_genomes_af": 0.0000197327,
"gnomad_exomes_ac": 96,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3153897523880005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.186,
"revel_prediction": "Benign",
"alphamissense_score": 0.2354,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.492,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138401.4",
"gene_symbol": "MVB12A",
"hgnc_id": 25153,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.367C>T",
"hgvs_p": "p.Arg123Trp"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000593957.1",
"gene_symbol": "ENSG00000269481",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-88G>A",
"hgvs_p": null
}
],
"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
}