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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: 19-16500826-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=16500826&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 16500826,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032207.4",
"consequences": [
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "NM_032207.4",
"protein_id": "NP_115583.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 657,
"cds_start": 34,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000221671.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032207.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "ENST00000221671.8",
"protein_id": "ENSP00000221671.2",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 657,
"cds_start": 34,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032207.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221671.8"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "ENST00000594035.5",
"protein_id": "ENSP00000472436.1",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594035.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "n.34C>T",
"hgvs_p": null,
"transcript": "ENST00000593380.1",
"protein_id": "ENSP00000472255.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000593380.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ENSG00000141979",
"gene_hgnc_id": null,
"hgvs_c": "n.*380-4974G>A",
"hgvs_p": null,
"transcript": "ENST00000409035.1",
"protein_id": "ENSP00000386951.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000409035.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "ENST00000862236.1",
"protein_id": "ENSP00000532295.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 657,
"cds_start": 34,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862236.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "ENST00000948804.1",
"protein_id": "ENSP00000618863.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 656,
"cds_start": 34,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948804.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "ENST00000862233.1",
"protein_id": "ENSP00000532292.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 650,
"cds_start": 34,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862233.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "NM_001288834.2",
"protein_id": "NP_001275763.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288834.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "ENST00000862232.1",
"protein_id": "ENSP00000532291.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862232.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "ENST00000862237.1",
"protein_id": "ENSP00000532296.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862237.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "ENST00000862234.1",
"protein_id": "ENSP00000532293.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 618,
"cds_start": 34,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862234.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "ENST00000862235.1",
"protein_id": "ENSP00000532294.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 527,
"cds_start": 34,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862235.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "ENST00000594813.1",
"protein_id": "ENSP00000471806.1",
"transcript_support_level": 4,
"aa_start": 12,
"aa_end": null,
"aa_length": 110,
"cds_start": 34,
"cds_end": null,
"cds_length": 334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594813.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "ENST00000599550.1",
"protein_id": "ENSP00000469339.1",
"transcript_support_level": 4,
"aa_start": 12,
"aa_end": null,
"aa_length": 60,
"cds_start": 34,
"cds_end": null,
"cds_length": 184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599550.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "XM_011528354.4",
"protein_id": "XP_011526656.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 657,
"cds_start": 34,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528354.4"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "XM_006722920.5",
"protein_id": "XP_006722983.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 625,
"cds_start": 34,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722920.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "XM_047439503.1",
"protein_id": "XP_047295459.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 588,
"cds_start": 34,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439503.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys",
"transcript": "XM_047439504.1",
"protein_id": "XP_047295460.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 574,
"cds_start": 34,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439504.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "C19orf44",
"gene_hgnc_id": 26141,
"hgvs_c": "n.34C>T",
"hgvs_p": null,
"transcript": "ENST00000596592.5",
"protein_id": "ENSP00000470238.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000596592.5"
}
],
"gene_symbol": "C19orf44",
"gene_hgnc_id": 26141,
"dbsnp": "rs776435313",
"frequency_reference_population": 0.000008767601,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000761415,
"gnomad_genomes_af": 0.0000197226,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07997468113899231,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.0901,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.529,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032207.4",
"gene_symbol": "C19orf44",
"hgnc_id": 26141,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.34C>T",
"hgvs_p": "p.Arg12Cys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000409035.1",
"gene_symbol": "ENSG00000141979",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*380-4974G>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
}