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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: 16-48167599-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=48167599&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ABCC11",
"hgnc_id": 14639,
"hgvs_c": "c.3959G>A",
"hgvs_p": "p.Arg1320His",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001370496.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
"acmg_score": -8,
"allele_count_reference_population": 19,
"alphamissense_prediction": null,
"alphamissense_score": 0.0576,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "16",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14295083284378052,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1382,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5894,
"cdna_start": 4197,
"cds_end": null,
"cds_length": 4149,
"cds_start": 3953,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001370497.1",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.3953G>A",
"hgvs_p": "p.Arg1318His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356608.7",
"protein_coding": true,
"protein_id": "NP_001357426.1",
"strand": false,
"transcript": "NM_001370497.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1382,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5894,
"cdna_start": 4197,
"cds_end": null,
"cds_length": 4149,
"cds_start": 3953,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000356608.7",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.3953G>A",
"hgvs_p": "p.Arg1318His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001370497.1",
"protein_coding": true,
"protein_id": "ENSP00000349017.2",
"strand": false,
"transcript": "ENST00000356608.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1382,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4862,
"cdna_start": 4303,
"cds_end": null,
"cds_length": 4149,
"cds_start": 3953,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000394747.5",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.3953G>A",
"hgvs_p": "p.Arg1318His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378230.1",
"strand": false,
"transcript": "ENST00000394747.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1382,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4576,
"cdna_start": 4017,
"cds_end": null,
"cds_length": 4149,
"cds_start": 3953,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000394748.5",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.3953G>A",
"hgvs_p": "p.Arg1318His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378231.1",
"strand": false,
"transcript": "ENST00000394748.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "R",
"aa_start": 1280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4463,
"cdna_start": 3903,
"cds_end": null,
"cds_length": 4035,
"cds_start": 3839,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000353782.9",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.3839G>A",
"hgvs_p": "p.Arg1280His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311326.6",
"strand": false,
"transcript": "ENST00000353782.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000565329.1",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "n.1253G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000565329.1",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1384,
"aa_ref": "R",
"aa_start": 1320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6054,
"cdna_start": 4357,
"cds_end": null,
"cds_length": 4155,
"cds_start": 3959,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001370496.1",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.3959G>A",
"hgvs_p": "p.Arg1320His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357425.1",
"strand": false,
"transcript": "NM_001370496.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1382,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6094,
"cdna_start": 4397,
"cds_end": null,
"cds_length": 4149,
"cds_start": 3953,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_032583.4",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.3953G>A",
"hgvs_p": "p.Arg1318His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115972.2",
"strand": false,
"transcript": "NM_032583.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1382,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6000,
"cdna_start": 4303,
"cds_end": null,
"cds_length": 4149,
"cds_start": 3953,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_033151.4",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.3953G>A",
"hgvs_p": "p.Arg1318His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_149163.2",
"strand": false,
"transcript": "NM_033151.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "R",
"aa_start": 1280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5980,
"cdna_start": 4283,
"cds_end": null,
"cds_length": 4035,
"cds_start": 3839,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_145186.3",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.3839G>A",
"hgvs_p": "p.Arg1280His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_660187.1",
"strand": false,
"transcript": "NM_145186.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1382,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5772,
"cdna_start": 4075,
"cds_end": null,
"cds_length": 4149,
"cds_start": 3953,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_017023797.3",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.3953G>A",
"hgvs_p": "p.Arg1318His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879286.1",
"strand": false,
"transcript": "XM_017023797.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1382,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5726,
"cdna_start": 4029,
"cds_end": null,
"cds_length": 4149,
"cds_start": 3953,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_017023798.3",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.3953G>A",
"hgvs_p": "p.Arg1318His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879287.1",
"strand": false,
"transcript": "XM_017023798.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1382,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6048,
"cdna_start": 4351,
"cds_end": null,
"cds_length": 4149,
"cds_start": 3953,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_017023799.3",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.3953G>A",
"hgvs_p": "p.Arg1318His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879288.1",
"strand": false,
"transcript": "XM_017023799.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1382,
"aa_ref": "R",
"aa_start": 1318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5812,
"cdna_start": 4115,
"cds_end": null,
"cds_length": 4149,
"cds_start": 3953,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_017023800.3",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.3953G>A",
"hgvs_p": "p.Arg1318His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879289.1",
"strand": false,
"transcript": "XM_017023800.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1346,
"aa_ref": "R",
"aa_start": 1282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5786,
"cdna_start": 4089,
"cds_end": null,
"cds_length": 4041,
"cds_start": 3845,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_017023801.3",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.3845G>A",
"hgvs_p": "p.Arg1282His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879290.1",
"strand": false,
"transcript": "XM_017023801.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1063,
"aa_ref": "R",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5070,
"cdna_start": 3373,
"cds_end": null,
"cds_length": 3192,
"cds_start": 2996,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_017023802.3",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.2996G>A",
"hgvs_p": "p.Arg999His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879291.1",
"strand": false,
"transcript": "XM_017023802.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1063,
"aa_ref": "R",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4924,
"cdna_start": 3227,
"cds_end": null,
"cds_length": 3192,
"cds_start": 2996,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_024450475.2",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.2996G>A",
"hgvs_p": "p.Arg999His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306243.1",
"strand": false,
"transcript": "XM_024450475.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 759,
"aa_ref": "R",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3934,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 2280,
"cds_start": 2084,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011523398.4",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "c.2084G>A",
"hgvs_p": "p.Arg695His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521700.1",
"strand": false,
"transcript": "XM_011523398.4",
"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": 5141,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XR_007064925.1",
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"hgvs_c": "n.4351G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007064925.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs780646973",
"effect": "missense_variant",
"frequency_reference_population": 0.00001178448,
"gene_hgnc_id": 14639,
"gene_symbol": "ABCC11",
"gnomad_exomes_ac": 18,
"gnomad_exomes_af": 0.0000123254,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000658389,
"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": "Likely benign",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.018,
"pos": 48167599,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.218,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001370496.1"
}
]
}