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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: 12-30631906-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=30631906&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 30631906,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006390.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3005G>A",
"hgvs_p": "p.Arg1002Gln",
"transcript": "NM_006390.4",
"protein_id": "NP_006381.2",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256079.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006390.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3005G>A",
"hgvs_p": "p.Arg1002Gln",
"transcript": "ENST00000256079.9",
"protein_id": "ENSP00000256079.4",
"transcript_support_level": 1,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006390.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256079.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3101G>A",
"hgvs_p": "p.Arg1034Gln",
"transcript": "ENST00000910950.1",
"protein_id": "ENSP00000581009.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3101,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910950.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3098G>A",
"hgvs_p": "p.Arg1033Gln",
"transcript": "ENST00000910953.1",
"protein_id": "ENSP00000581012.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3098,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910953.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3053G>A",
"hgvs_p": "p.Arg1018Gln",
"transcript": "ENST00000936164.1",
"protein_id": "ENSP00000606223.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1053,
"cds_start": 3053,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936164.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3002G>A",
"hgvs_p": "p.Arg1001Gln",
"transcript": "ENST00000910949.1",
"protein_id": "ENSP00000581008.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1036,
"cds_start": 3002,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910949.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2996G>A",
"hgvs_p": "p.Arg999Gln",
"transcript": "ENST00000936167.1",
"protein_id": "ENSP00000606226.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2996,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936167.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2921G>A",
"hgvs_p": "p.Arg974Gln",
"transcript": "ENST00000910951.1",
"protein_id": "ENSP00000581010.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2921,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910951.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2870G>A",
"hgvs_p": "p.Arg957Gln",
"transcript": "ENST00000936165.1",
"protein_id": "ENSP00000606224.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 992,
"cds_start": 2870,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936165.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2846G>A",
"hgvs_p": "p.Arg949Gln",
"transcript": "ENST00000910952.1",
"protein_id": "ENSP00000581011.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 984,
"cds_start": 2846,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910952.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2825G>A",
"hgvs_p": "p.Arg942Gln",
"transcript": "ENST00000910956.1",
"protein_id": "ENSP00000581015.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 977,
"cds_start": 2825,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910956.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2801G>A",
"hgvs_p": "p.Arg934Gln",
"transcript": "ENST00000910954.1",
"protein_id": "ENSP00000581013.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 969,
"cds_start": 2801,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910954.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2762G>A",
"hgvs_p": "p.Arg921Gln",
"transcript": "ENST00000910955.1",
"protein_id": "ENSP00000581014.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 956,
"cds_start": 2762,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910955.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2390G>A",
"hgvs_p": "p.Arg797Gln",
"transcript": "NM_001190995.2",
"protein_id": "NP_001177924.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 832,
"cds_start": 2390,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190995.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2390G>A",
"hgvs_p": "p.Arg797Gln",
"transcript": "ENST00000544829.5",
"protein_id": "ENSP00000444520.1",
"transcript_support_level": 2,
"aa_start": 797,
"aa_end": null,
"aa_length": 832,
"cds_start": 2390,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544829.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.1151G>A",
"hgvs_p": "p.Arg384Gln",
"transcript": "ENST00000936166.1",
"protein_id": "ENSP00000606225.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 419,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936166.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Gln",
"transcript": "ENST00000535598.1",
"protein_id": "ENSP00000446232.1",
"transcript_support_level": 3,
"aa_start": 159,
"aa_end": null,
"aa_length": 166,
"cds_start": 476,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535598.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2954G>A",
"hgvs_p": "p.Arg985Gln",
"transcript": "XM_017018691.3",
"protein_id": "XP_016874180.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2954,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018691.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2819G>A",
"hgvs_p": "p.Arg940Gln",
"transcript": "XM_017018692.2",
"protein_id": "XP_016874181.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 975,
"cds_start": 2819,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018692.2"
}
],
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"dbsnp": "rs144603566",
"frequency_reference_population": 0.000095640295,
"hom_count_reference_population": 0,
"allele_count_reference_population": 154,
"gnomad_exomes_af": 0.0000658471,
"gnomad_genomes_af": 0.000380882,
"gnomad_exomes_ac": 96,
"gnomad_genomes_ac": 58,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0645831823348999,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.109,
"revel_prediction": "Benign",
"alphamissense_score": 0.0833,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.092,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_006390.4",
"gene_symbol": "IPO8",
"hgnc_id": 9853,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3005G>A",
"hgvs_p": "p.Arg1002Gln"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}