← Back to variant description
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: 1-230988324-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=230988324&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 230988324,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001346992.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Phe",
"transcript": "NM_022786.3",
"protein_id": "NP_073623.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 271,
"cds_start": 179,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310256.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022786.3"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"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": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Phe",
"transcript": "ENST00000310256.7",
"protein_id": "ENSP00000312458.2",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 271,
"cds_start": 179,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022786.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310256.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Phe",
"transcript": "ENST00000893839.1",
"protein_id": "ENSP00000563898.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 312,
"cds_start": 179,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893839.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Phe",
"transcript": "ENST00000893842.1",
"protein_id": "ENSP00000563901.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 312,
"cds_start": 179,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893842.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "ENST00000960456.1",
"protein_id": "ENSP00000630515.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 308,
"cds_start": 191,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960456.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Phe",
"transcript": "NM_001346992.2",
"protein_id": "NP_001333921.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 304,
"cds_start": 179,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346992.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "c.137C>T",
"hgvs_p": "p.Ser46Phe",
"transcript": "ENST00000435927.5",
"protein_id": "ENSP00000394547.1",
"transcript_support_level": 3,
"aa_start": 46,
"aa_end": null,
"aa_length": 290,
"cds_start": 137,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435927.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ser64Phe",
"transcript": "ENST00000893841.1",
"protein_id": "ENSP00000563900.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 275,
"cds_start": 191,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893841.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Phe",
"transcript": "ENST00000893843.1",
"protein_id": "ENSP00000563902.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 271,
"cds_start": 179,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893843.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "c.167C>T",
"hgvs_p": "p.Ser56Phe",
"transcript": "ENST00000450711.5",
"protein_id": "ENSP00000416039.1",
"transcript_support_level": 3,
"aa_start": 56,
"aa_end": null,
"aa_length": 267,
"cds_start": 167,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450711.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "c.158C>T",
"hgvs_p": "p.Ser53Phe",
"transcript": "ENST00000936179.1",
"protein_id": "ENSP00000606238.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 264,
"cds_start": 158,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936179.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Phe",
"transcript": "ENST00000893838.1",
"protein_id": "ENSP00000563897.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 196,
"cds_start": 179,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893838.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Phe",
"transcript": "ENST00000893840.1",
"protein_id": "ENSP00000563899.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 196,
"cds_start": 179,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893840.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Phe",
"transcript": "XM_024449202.2",
"protein_id": "XP_024304970.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 312,
"cds_start": 179,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449202.2"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "c.175-1786C>T",
"hgvs_p": null,
"transcript": "ENST00000366658.6",
"protein_id": "ENSP00000355618.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366658.6"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "c.175-1786C>T",
"hgvs_p": null,
"transcript": "ENST00000936180.1",
"protein_id": "ENSP00000606239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936180.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "n.151C>T",
"hgvs_p": null,
"transcript": "ENST00000480519.5",
"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": "pseudogene",
"feature": "ENST00000480519.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "n.544C>T",
"hgvs_p": null,
"transcript": "ENST00000497753.1",
"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": "pseudogene",
"feature": "ENST00000497753.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "n.191C>T",
"hgvs_p": null,
"transcript": "NR_144538.2",
"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": "NR_144538.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "n.191C>T",
"hgvs_p": null,
"transcript": "XR_002957381.2",
"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": "XR_002957381.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARV1",
"gene_hgnc_id": 29561,
"hgvs_c": "n.191C>T",
"hgvs_p": null,
"transcript": "XR_007063028.1",
"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": "XR_007063028.1"
}
],
"gene_symbol": "ARV1",
"gene_hgnc_id": 29561,
"dbsnp": "rs141851104",
"frequency_reference_population": 6.960705e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.96071e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8157161474227905,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.35,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1699,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.754,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001346992.2",
"gene_symbol": "ARV1",
"hgnc_id": 29561,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}