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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: 1-201855867-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201855867&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IPO9",
"hgnc_id": 19425,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_018085.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 5,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2912,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5621165633201599,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1041,
"aa_ref": "T",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11416,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 3126,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_018085.5",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361565.9",
"protein_coding": true,
"protein_id": "NP_060555.2",
"strand": true,
"transcript": "NM_018085.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1041,
"aa_ref": "T",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11416,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 3126,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000361565.9",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018085.5",
"protein_coding": true,
"protein_id": "ENSP00000354742.4",
"strand": true,
"transcript": "ENST00000361565.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "T",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6868,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 3213,
"cds_start": 1142,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000926157.1",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.1142C>T",
"hgvs_p": "p.Thr381Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596216.1",
"strand": true,
"transcript": "ENST00000926157.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "T",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4129,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 3195,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000926161.1",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596220.1",
"strand": true,
"transcript": "ENST00000926161.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1051,
"aa_ref": "T",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4166,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 3156,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000886559.1",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556618.1",
"strand": true,
"transcript": "ENST00000886559.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1048,
"aa_ref": "T",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3698,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 3147,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000926164.1",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.1076C>T",
"hgvs_p": "p.Thr359Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596223.1",
"strand": true,
"transcript": "ENST00000926164.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "T",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3866,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 3138,
"cds_start": 1067,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000886562.1",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556621.1",
"strand": true,
"transcript": "ENST00000886562.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "T",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4103,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 3129,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000886560.1",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556619.1",
"strand": true,
"transcript": "ENST00000886560.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "T",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4030,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 3111,
"cds_start": 1040,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000926163.1",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.1040C>T",
"hgvs_p": "p.Thr347Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596222.1",
"strand": true,
"transcript": "ENST00000926163.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "T",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3440,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 3108,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000926165.1",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596224.1",
"strand": true,
"transcript": "ENST00000926165.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "T",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3953,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 3027,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000886561.1",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556620.1",
"strand": true,
"transcript": "ENST00000886561.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "T",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6677,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 3021,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000926156.1",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596215.1",
"strand": true,
"transcript": "ENST00000926156.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 984,
"aa_ref": "T",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 2955,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000886563.1",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556622.1",
"strand": true,
"transcript": "ENST00000886563.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 924,
"aa_ref": "T",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 764,
"cds_end": null,
"cds_length": 2775,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000926158.1",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Thr235Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596217.1",
"strand": true,
"transcript": "ENST00000926158.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 912,
"aa_ref": "T",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3698,
"cdna_start": 1106,
"cds_end": null,
"cds_length": 2739,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000926159.1",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Thr352Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596218.1",
"strand": true,
"transcript": "ENST00000926159.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 988,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3284,
"cdna_start": null,
"cds_end": null,
"cds_length": 2967,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926166.1",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.970+685C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596225.1",
"strand": true,
"transcript": "ENST00000926166.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 937,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3748,
"cdna_start": null,
"cds_end": null,
"cds_length": 2814,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926160.1",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.810+1153C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596219.1",
"strand": true,
"transcript": "ENST00000926160.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 606,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2747,
"cdna_start": null,
"cds_end": null,
"cds_length": 1821,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926162.1",
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"hgvs_c": "c.164-7581C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596221.1",
"strand": true,
"transcript": "ENST00000926162.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1336437471",
"effect": "missense_variant",
"frequency_reference_population": 0.0000031014483,
"gene_hgnc_id": 19425,
"gene_symbol": "IPO9",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136998,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197008,
"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": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.417,
"pos": 201855867,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.261,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_018085.5"
}
]
}