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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: 4-127643769-AT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=127643769&ref=AT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 127643769,
"ref": "AT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_015693.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.396delT",
"hgvs_p": "p.Asn132fs",
"transcript": "NM_015693.4",
"protein_id": "NP_056508.2",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 942,
"cds_start": 396,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335251.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015693.4"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.396delT",
"hgvs_p": "p.Asn132fs",
"transcript": "ENST00000335251.11",
"protein_id": "ENSP00000334003.5",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 942,
"cds_start": 396,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015693.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335251.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "n.396delT",
"hgvs_p": null,
"transcript": "ENST00000503952.5",
"protein_id": "ENSP00000421995.1",
"transcript_support_level": 1,
"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": "ENST00000503952.5"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.396delT",
"hgvs_p": "p.Asn132fs",
"transcript": "ENST00000917159.1",
"protein_id": "ENSP00000587218.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 947,
"cds_start": 396,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917159.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.396delT",
"hgvs_p": "p.Asn132fs",
"transcript": "ENST00000885219.1",
"protein_id": "ENSP00000555278.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 941,
"cds_start": 396,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885219.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.396delT",
"hgvs_p": "p.Asn132fs",
"transcript": "ENST00000917156.1",
"protein_id": "ENSP00000587215.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 924,
"cds_start": 396,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917156.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.396delT",
"hgvs_p": "p.Asn132fs",
"transcript": "ENST00000917155.1",
"protein_id": "ENSP00000587214.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 921,
"cds_start": 396,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917155.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.396delT",
"hgvs_p": "p.Asn132fs",
"transcript": "ENST00000885218.1",
"protein_id": "ENSP00000555277.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 920,
"cds_start": 396,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885218.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.396delT",
"hgvs_p": "p.Asn132fs",
"transcript": "ENST00000943831.1",
"protein_id": "ENSP00000613890.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 915,
"cds_start": 396,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943831.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.396delT",
"hgvs_p": "p.Asn132fs",
"transcript": "ENST00000917158.1",
"protein_id": "ENSP00000587217.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 912,
"cds_start": 396,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917158.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.396delT",
"hgvs_p": "p.Asn132fs",
"transcript": "ENST00000917157.1",
"protein_id": "ENSP00000587216.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 883,
"cds_start": 396,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917157.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.396delT",
"hgvs_p": "p.Asn132fs",
"transcript": "ENST00000943830.1",
"protein_id": "ENSP00000613889.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 783,
"cds_start": 396,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943830.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "c.339delT",
"hgvs_p": "p.Asn113fs",
"transcript": "ENST00000504491.1",
"protein_id": "ENSP00000422550.1",
"transcript_support_level": 4,
"aa_start": 113,
"aa_end": null,
"aa_length": 200,
"cds_start": 339,
"cds_end": null,
"cds_length": 605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504491.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"hgvs_c": "n.396delT",
"hgvs_p": null,
"transcript": "ENST00000503626.5",
"protein_id": "ENSP00000426287.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000503626.5"
}
],
"gene_symbol": "INTU",
"gene_hgnc_id": 29239,
"dbsnp": "rs1553970289",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.705,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_015693.4",
"gene_symbol": "INTU",
"hgnc_id": 29239,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.396delT",
"hgvs_p": "p.Asn132fs"
}
],
"clinvar_disease": "Mohr syndrome,Orofaciodigital syndrome 17",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Orofaciodigital syndrome 17|Mohr syndrome",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}