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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: 11-72686137-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72686137&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72686137,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001040118.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.4240G>C",
"hgvs_p": "p.Glu1414Gln",
"transcript": "NM_001040118.3",
"protein_id": "NP_001035207.1",
"transcript_support_level": null,
"aa_start": 1414,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4240,
"cds_end": null,
"cds_length": 4353,
"cdna_start": 4448,
"cdna_end": null,
"cdna_length": 5156,
"mane_select": "ENST00000393609.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.4240G>C",
"hgvs_p": "p.Glu1414Gln",
"transcript": "ENST00000393609.8",
"protein_id": "ENSP00000377233.3",
"transcript_support_level": 2,
"aa_start": 1414,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4240,
"cds_end": null,
"cds_length": 4353,
"cdna_start": 4448,
"cdna_end": null,
"cdna_length": 5156,
"mane_select": "NM_001040118.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3520G>C",
"hgvs_p": "p.Glu1174Gln",
"transcript": "ENST00000393605.7",
"protein_id": "ENSP00000377230.3",
"transcript_support_level": 1,
"aa_start": 1174,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3520,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 4076,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3505G>C",
"hgvs_p": "p.Glu1169Gln",
"transcript": "ENST00000334211.12",
"protein_id": "ENSP00000335506.8",
"transcript_support_level": 1,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3505,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 4240,
"cdna_end": null,
"cdna_length": 4942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3472G>C",
"hgvs_p": "p.Glu1158Gln",
"transcript": "ENST00000426523.5",
"protein_id": "ENSP00000392264.1",
"transcript_support_level": 1,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3472,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 3877,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3289G>C",
"hgvs_p": "p.Glu1097Gln",
"transcript": "ENST00000429686.5",
"protein_id": "ENSP00000403127.1",
"transcript_support_level": 1,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3289,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 3694,
"cdna_end": null,
"cdna_length": 3883,
"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": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "n.2050G>C",
"hgvs_p": null,
"transcript": "ENST00000495878.5",
"protein_id": null,
"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": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.4207G>C",
"hgvs_p": "p.Glu1403Gln",
"transcript": "ENST00000359373.9",
"protein_id": "ENSP00000352332.5",
"transcript_support_level": 2,
"aa_start": 1403,
"aa_end": null,
"aa_length": 1439,
"cds_start": 4207,
"cds_end": null,
"cds_length": 4320,
"cdna_start": 5059,
"cdna_end": null,
"cdna_length": 5767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3505G>C",
"hgvs_p": "p.Glu1169Gln",
"transcript": "NM_015242.5",
"protein_id": "NP_056057.2",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3505,
"cds_end": null,
"cds_length": 3618,
"cdna_start": 4222,
"cdna_end": null,
"cdna_length": 4930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3472G>C",
"hgvs_p": "p.Glu1158Gln",
"transcript": "NM_001369489.1",
"protein_id": "NP_001356418.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3472,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 4189,
"cdna_end": null,
"cdna_length": 4897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.3289G>C",
"hgvs_p": "p.Glu1097Gln",
"transcript": "NM_001135190.2",
"protein_id": "NP_001128662.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3289,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 4006,
"cdna_end": null,
"cdna_length": 4714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.619G>C",
"hgvs_p": "p.Glu207Gln",
"transcript": "ENST00000542596.5",
"protein_id": "ENSP00000441741.1",
"transcript_support_level": 5,
"aa_start": 207,
"aa_end": null,
"aa_length": 232,
"cds_start": 619,
"cds_end": null,
"cds_length": 699,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "c.196G>C",
"hgvs_p": "p.Glu66Gln",
"transcript": "ENST00000536885.1",
"protein_id": "ENSP00000442746.1",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 177,
"cds_start": 196,
"cds_end": null,
"cds_length": 534,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 639,
"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": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "n.4905G>C",
"hgvs_p": null,
"transcript": "ENST00000465814.5",
"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": 5612,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "n.438G>C",
"hgvs_p": null,
"transcript": "ENST00000541623.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 533,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "n.604G>C",
"hgvs_p": null,
"transcript": "ENST00000544721.5",
"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": 773,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"hgvs_c": "n.3920G>C",
"hgvs_p": null,
"transcript": "NR_161388.1",
"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": 4628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARAP1-AS1",
"gene_hgnc_id": 39993,
"hgvs_c": "n.347+716C>G",
"hgvs_p": null,
"transcript": "ENST00000542022.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARAP1",
"gene_hgnc_id": 16925,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2662191689014435,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.127,
"revel_prediction": "Benign",
"alphamissense_score": 0.1807,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.987,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.13,
"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_001040118.3",
"gene_symbol": "ARAP1",
"hgnc_id": 16925,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4240G>C",
"hgvs_p": "p.Glu1414Gln"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000542022.1",
"gene_symbol": "ARAP1-AS1",
"hgnc_id": 39993,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.347+716C>G",
"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
}