← 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: 2-3192490-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=3192490&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 3192490,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001330530.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"hgvs_c": "c.913A>T",
"hgvs_p": "p.Ile305Phe",
"transcript": "NM_003310.5",
"protein_id": "NP_003301.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 387,
"cds_start": 913,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382125.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003310.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"hgvs_c": "c.913A>T",
"hgvs_p": "p.Ile305Phe",
"transcript": "ENST00000382125.9",
"protein_id": "ENSP00000371559.4",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 387,
"cds_start": 913,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003310.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382125.9"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"hgvs_c": "c.1003A>T",
"hgvs_p": "p.Ile335Phe",
"transcript": "ENST00000864323.1",
"protein_id": "ENSP00000534382.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 417,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864323.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"hgvs_c": "c.994A>T",
"hgvs_p": "p.Ile332Phe",
"transcript": "NM_001330530.3",
"protein_id": "NP_001317459.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 414,
"cds_start": 994,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330530.3"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"hgvs_c": "c.994A>T",
"hgvs_p": "p.Ile332Phe",
"transcript": "ENST00000398659.8",
"protein_id": "ENSP00000381652.4",
"transcript_support_level": 5,
"aa_start": 332,
"aa_end": null,
"aa_length": 414,
"cds_start": 994,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398659.8"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"hgvs_c": "c.967A>T",
"hgvs_p": "p.Ile323Phe",
"transcript": "ENST00000864324.1",
"protein_id": "ENSP00000534383.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 405,
"cds_start": 967,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864324.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"hgvs_c": "c.829A>T",
"hgvs_p": "p.Ile277Phe",
"transcript": "ENST00000955638.1",
"protein_id": "ENSP00000625697.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 359,
"cds_start": 829,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955638.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"hgvs_c": "c.481A>T",
"hgvs_p": "p.Ile161Phe",
"transcript": "NM_001330531.3",
"protein_id": "NP_001317460.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 243,
"cds_start": 481,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330531.3"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"hgvs_c": "c.460A>T",
"hgvs_p": "p.Ile154Phe",
"transcript": "ENST00000441271.1",
"protein_id": "ENSP00000393350.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 177,
"cds_start": 460,
"cds_end": null,
"cds_length": 536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441271.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"hgvs_c": "c.1030A>T",
"hgvs_p": "p.Ile344Phe",
"transcript": "XM_011510383.4",
"protein_id": "XP_011508685.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 426,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510383.4"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"hgvs_c": "c.949A>T",
"hgvs_p": "p.Ile317Phe",
"transcript": "XM_011510385.3",
"protein_id": "XP_011508687.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 399,
"cds_start": 949,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510385.3"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"hgvs_c": "c.613A>T",
"hgvs_p": "p.Ile205Phe",
"transcript": "XM_006711893.3",
"protein_id": "XP_006711956.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 287,
"cds_start": 613,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711893.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"hgvs_c": "n.*446A>T",
"hgvs_p": null,
"transcript": "ENST00000455162.5",
"protein_id": "ENSP00000389228.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000455162.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"hgvs_c": "n.2272A>T",
"hgvs_p": null,
"transcript": "ENST00000478754.5",
"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": "ENST00000478754.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"hgvs_c": "n.485A>T",
"hgvs_p": null,
"transcript": "ENST00000496433.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000496433.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"hgvs_c": "n.*446A>T",
"hgvs_p": null,
"transcript": "ENST00000455162.5",
"protein_id": "ENSP00000389228.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000455162.5"
}
],
"gene_symbol": "EIPR1",
"gene_hgnc_id": 12383,
"dbsnp": "rs574287329",
"frequency_reference_population": 0.000006565643,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656564,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38448378443717957,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.255,
"revel_prediction": "Benign",
"alphamissense_score": 0.7294,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.77,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330530.3",
"gene_symbol": "EIPR1",
"hgnc_id": 12383,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.994A>T",
"hgvs_p": "p.Ile332Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}