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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: 1-230988428-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=230988428&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ARV1",
"hgnc_id": 29561,
"hgvs_c": "c.283A>C",
"hgvs_p": "p.Thr95Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001346992.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 40,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.6522,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "ARV1-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5593812465667725,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 271,
"aa_ref": "T",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1428,
"cdna_start": 295,
"cds_end": null,
"cds_length": 816,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_022786.3",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.283A>C",
"hgvs_p": "p.Thr95Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310256.7",
"protein_coding": true,
"protein_id": "NP_073623.1",
"strand": true,
"transcript": "NM_022786.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 271,
"aa_ref": "T",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1428,
"cdna_start": 295,
"cds_end": null,
"cds_length": 816,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000310256.7",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.283A>C",
"hgvs_p": "p.Thr95Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022786.3",
"protein_coding": true,
"protein_id": "ENSP00000312458.2",
"strand": true,
"transcript": "ENST00000310256.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 312,
"aa_ref": "T",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1434,
"cdna_start": 317,
"cds_end": null,
"cds_length": 939,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000893839.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.283A>C",
"hgvs_p": "p.Thr95Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563898.1",
"strand": true,
"transcript": "ENST00000893839.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 312,
"aa_ref": "T",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 319,
"cds_end": null,
"cds_length": 939,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000893842.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.283A>C",
"hgvs_p": "p.Thr95Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563901.1",
"strand": true,
"transcript": "ENST00000893842.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 308,
"aa_ref": "T",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1386,
"cdna_start": 302,
"cds_end": null,
"cds_length": 927,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000960456.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.295A>C",
"hgvs_p": "p.Thr99Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630515.1",
"strand": true,
"transcript": "ENST00000960456.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 304,
"aa_ref": "T",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1527,
"cdna_start": 295,
"cds_end": null,
"cds_length": 915,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001346992.2",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.283A>C",
"hgvs_p": "p.Thr95Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333921.1",
"strand": true,
"transcript": "NM_001346992.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 290,
"aa_ref": "T",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 879,
"cdna_start": 243,
"cds_end": null,
"cds_length": 873,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000435927.5",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Thr81Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394547.1",
"strand": true,
"transcript": "ENST00000435927.5",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 275,
"aa_ref": "T",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1306,
"cdna_start": 313,
"cds_end": null,
"cds_length": 828,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000893841.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.295A>C",
"hgvs_p": "p.Thr99Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563900.1",
"strand": true,
"transcript": "ENST00000893841.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 271,
"aa_ref": "T",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2346,
"cdna_start": 317,
"cds_end": null,
"cds_length": 816,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000893843.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.283A>C",
"hgvs_p": "p.Thr95Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563902.1",
"strand": true,
"transcript": "ENST00000893843.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 267,
"aa_ref": "T",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 991,
"cdna_start": 273,
"cds_end": null,
"cds_length": 804,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000450711.5",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.271A>C",
"hgvs_p": "p.Thr91Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416039.1",
"strand": true,
"transcript": "ENST00000450711.5",
"transcript_support_level": 3
},
{
"aa_alt": "P",
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"aa_length": 264,
"aa_ref": "T",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1294,
"cdna_start": 299,
"cds_end": null,
"cds_length": 795,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000936179.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.262A>C",
"hgvs_p": "p.Thr88Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606238.1",
"strand": true,
"transcript": "ENST00000936179.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 196,
"aa_ref": "T",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1714,
"cdna_start": 291,
"cds_end": null,
"cds_length": 591,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000893838.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.283A>C",
"hgvs_p": "p.Thr95Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563897.1",
"strand": true,
"transcript": "ENST00000893838.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 196,
"aa_ref": "T",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1079,
"cdna_start": 319,
"cds_end": null,
"cds_length": 591,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000893840.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.283A>C",
"hgvs_p": "p.Thr95Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563899.1",
"strand": true,
"transcript": "ENST00000893840.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 312,
"aa_ref": "T",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": 295,
"cds_end": null,
"cds_length": 939,
"cds_start": 283,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_024449202.2",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.283A>C",
"hgvs_p": "p.Thr95Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304970.1",
"strand": true,
"transcript": "XM_024449202.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 231,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1170,
"cdna_start": null,
"cds_end": null,
"cds_length": 696,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000366658.6",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.175-1682A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355618.2",
"strand": true,
"transcript": "ENST00000366658.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 231,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": null,
"cds_end": null,
"cds_length": 696,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936180.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "c.175-1682A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606239.1",
"strand": true,
"transcript": "ENST00000936180.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1037,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000480519.5",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "n.255A>C",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000480519.5",
"transcript_support_level": 5
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1072,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000497753.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "n.648A>C",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000497753.1",
"transcript_support_level": 5
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1607,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_144538.2",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "n.295A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_144538.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_002957381.2",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "n.295A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_002957381.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1706,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_007063028.1",
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"hgvs_c": "n.295A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007063028.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs146498592",
"effect": "missense_variant",
"frequency_reference_population": 0.00002575534,
"gene_hgnc_id": 29561,
"gene_symbol": "ARV1",
"gnomad_exomes_ac": 22,
"gnomad_exomes_af": 0.0000157057,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 18,
"gnomad_genomes_af": 0.000118182,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "ARV1-related disorder",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.905,
"pos": 230988428,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.457,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001346992.2"
}
]
}