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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: 21-33893220-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33893220&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33893220,
"ref": "A",
"alt": "G",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000381318.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.*4920A>G",
"hgvs_p": null,
"transcript": "NM_003024.3",
"protein_id": "NP_003015.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1721,
"cds_start": -4,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16972,
"mane_select": "ENST00000381318.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.*4920A>G",
"hgvs_p": null,
"transcript": "ENST00000381318.8",
"protein_id": "ENSP00000370719.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1721,
"cds_start": -4,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16972,
"mane_select": "NM_003024.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000249209",
"gene_hgnc_id": null,
"hgvs_c": "c.441+14121T>C",
"hgvs_p": null,
"transcript": "ENST00000429238.2",
"protein_id": "ENSP00000394107.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": -4,
"cds_end": null,
"cds_length": 727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.*4920A>G",
"hgvs_p": null,
"transcript": "NM_001331010.2",
"protein_id": "NP_001317939.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1716,
"cds_start": -4,
"cds_end": null,
"cds_length": 5151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.*4920A>G",
"hgvs_p": null,
"transcript": "XM_017028428.2",
"protein_id": "XP_016883917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1721,
"cds_start": -4,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.*4920A>G",
"hgvs_p": null,
"transcript": "XM_017028429.3",
"protein_id": "XP_016883918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1684,
"cds_start": -4,
"cds_end": null,
"cds_length": 5055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.*4920A>G",
"hgvs_p": null,
"transcript": "XM_017028430.3",
"protein_id": "XP_016883919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1679,
"cds_start": -4,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.*4920A>G",
"hgvs_p": null,
"transcript": "XM_047440943.1",
"protein_id": "XP_047296899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1679,
"cds_start": -4,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 27527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.*4920A>G",
"hgvs_p": null,
"transcript": "XM_017028431.3",
"protein_id": "XP_016883920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1665,
"cds_start": -4,
"cds_end": null,
"cds_length": 4998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.*4920A>G",
"hgvs_p": null,
"transcript": "XM_017028432.3",
"protein_id": "XP_016883921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1660,
"cds_start": -4,
"cds_end": null,
"cds_length": 4983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.*4920A>G",
"hgvs_p": null,
"transcript": "XM_017028433.3",
"protein_id": "XP_016883922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1650,
"cds_start": -4,
"cds_end": null,
"cds_length": 4953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.*4920A>G",
"hgvs_p": null,
"transcript": "XM_017028434.3",
"protein_id": "XP_016883923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1645,
"cds_start": -4,
"cds_end": null,
"cds_length": 4938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.*4920A>G",
"hgvs_p": null,
"transcript": "XM_017028435.3",
"protein_id": "XP_016883924.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1613,
"cds_start": -4,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.*4920A>G",
"hgvs_p": null,
"transcript": "XM_017028436.3",
"protein_id": "XP_016883925.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1608,
"cds_start": -4,
"cds_end": null,
"cds_length": 4827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"dbsnp": "rs743337",
"frequency_reference_population": 0.27202672,
"hom_count_reference_population": 5734,
"allele_count_reference_population": 41372,
"gnomad_exomes_af": 0.238095,
"gnomad_genomes_af": 0.272036,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 41362,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 5733,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.608,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000381318.8",
"gene_symbol": "ITSN1",
"hgnc_id": 6183,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*4920A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000429238.2",
"gene_symbol": "ENSG00000249209",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.441+14121T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}