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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: 17-40191419-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40191419&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40191419,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016339.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEFL1",
"gene_hgnc_id": 17428,
"hgvs_c": "c.1439C>T",
"hgvs_p": "p.Ala480Val",
"transcript": "NM_016339.6",
"protein_id": "NP_057423.2",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 662,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000620260.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016339.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEFL1",
"gene_hgnc_id": 17428,
"hgvs_c": "c.1439C>T",
"hgvs_p": "p.Ala480Val",
"transcript": "ENST00000620260.6",
"protein_id": "ENSP00000479735.1",
"transcript_support_level": 1,
"aa_start": 480,
"aa_end": null,
"aa_length": 662,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016339.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620260.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEFL1",
"gene_hgnc_id": 17428,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Ala329Val",
"transcript": "ENST00000456989.6",
"protein_id": "ENSP00000394530.2",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 511,
"cds_start": 986,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456989.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEFL1",
"gene_hgnc_id": 17428,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ala323Val",
"transcript": "ENST00000544503.5",
"protein_id": "ENSP00000438631.1",
"transcript_support_level": 2,
"aa_start": 323,
"aa_end": null,
"aa_length": 505,
"cds_start": 968,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544503.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEFL1",
"gene_hgnc_id": 17428,
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"transcript": "ENST00000264644.10",
"protein_id": "ENSP00000264644.5",
"transcript_support_level": 5,
"aa_start": 274,
"aa_end": null,
"aa_length": 456,
"cds_start": 821,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264644.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEFL1",
"gene_hgnc_id": 17428,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Ala329Val",
"transcript": "NM_001303533.2",
"protein_id": "NP_001290462.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 511,
"cds_start": 986,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303533.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEFL1",
"gene_hgnc_id": 17428,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ala323Val",
"transcript": "NM_001303534.3",
"protein_id": "NP_001290463.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 505,
"cds_start": 968,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303534.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEFL1",
"gene_hgnc_id": 17428,
"hgvs_c": "c.1439C>T",
"hgvs_p": "p.Ala480Val",
"transcript": "XM_047436203.1",
"protein_id": "XP_047292159.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 662,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436203.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEFL1",
"gene_hgnc_id": 17428,
"hgvs_c": "c.932C>T",
"hgvs_p": "p.Ala311Val",
"transcript": "XM_047436204.1",
"protein_id": "XP_047292160.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 493,
"cds_start": 932,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436204.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEFL1",
"gene_hgnc_id": 17428,
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"transcript": "XM_047436205.1",
"protein_id": "XP_047292161.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 456,
"cds_start": 821,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436205.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEFL1",
"gene_hgnc_id": 17428,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Ala210Val",
"transcript": "XM_006721938.4",
"protein_id": "XP_006722001.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 392,
"cds_start": 629,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721938.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEFL1",
"gene_hgnc_id": 17428,
"hgvs_c": "n.934C>T",
"hgvs_p": null,
"transcript": "ENST00000545893.5",
"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": "ENST00000545893.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295930",
"gene_hgnc_id": null,
"hgvs_c": "n.102+279G>A",
"hgvs_p": null,
"transcript": "ENST00000734106.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000734106.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPGEFL1",
"gene_hgnc_id": 17428,
"hgvs_c": "n.-51C>T",
"hgvs_p": null,
"transcript": "ENST00000496032.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000496032.1"
}
],
"gene_symbol": "RAPGEFL1",
"gene_hgnc_id": 17428,
"dbsnp": "rs1990260088",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22430604696273804,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.164,
"revel_prediction": "Benign",
"alphamissense_score": 0.2758,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.083,
"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_016339.6",
"gene_symbol": "RAPGEFL1",
"hgnc_id": 17428,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1439C>T",
"hgvs_p": "p.Ala480Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000734106.1",
"gene_symbol": "ENSG00000295930",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.102+279G>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
}