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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: 3-121994214-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=121994214&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 121994214,
"ref": "GA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000344209.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.745delT",
"hgvs_p": "p.Ser249fs",
"transcript": "NM_001199799.2",
"protein_id": "NP_001186728.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 546,
"cds_start": 745,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": "ENST00000344209.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.745delT",
"hgvs_p": "p.Ser249fs",
"transcript": "ENST00000344209.10",
"protein_id": "ENSP00000345667.5",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 546,
"cds_start": 745,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": "NM_001199799.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.478delT",
"hgvs_p": "p.Ser160fs",
"transcript": "ENST00000393631.5",
"protein_id": "ENSP00000377251.1",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 457,
"cds_start": 478,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 1456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.647-245delT",
"hgvs_p": null,
"transcript": "ENST00000273691.7",
"protein_id": "ENSP00000273691.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": -4,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "n.729-245delT",
"hgvs_p": null,
"transcript": "ENST00000460554.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.478delT",
"hgvs_p": "p.Ser160fs",
"transcript": "NM_001199800.2",
"protein_id": "NP_001186729.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 457,
"cds_start": 478,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.745delT",
"hgvs_p": "p.Ser249fs",
"transcript": "XM_011512738.3",
"protein_id": "XP_011511040.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 525,
"cds_start": 745,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.340delT",
"hgvs_p": "p.Ser114fs",
"transcript": "XM_047448044.1",
"protein_id": "XP_047304000.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 411,
"cds_start": 340,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 3863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "n.745delT",
"hgvs_p": null,
"transcript": "ENST00000642615.1",
"protein_id": "ENSP00000495499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.647-245delT",
"hgvs_p": null,
"transcript": "NM_175924.4",
"protein_id": "NP_787120.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": -4,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.683-245delT",
"hgvs_p": null,
"transcript": "XM_005247389.5",
"protein_id": "XP_005247446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"hgvs_c": "c.647-245delT",
"hgvs_p": null,
"transcript": "XM_047448043.1",
"protein_id": "XP_047303999.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": -4,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ILDR1",
"gene_hgnc_id": 28741,
"dbsnp": "rs571007078",
"frequency_reference_population": 0.00009440203,
"hom_count_reference_population": 0,
"allele_count_reference_population": 145,
"gnomad_exomes_af": 0.0000939433,
"gnomad_genomes_af": 0.000098574,
"gnomad_exomes_ac": 130,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": 5.911,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000344209.10",
"gene_symbol": "ILDR1",
"hgnc_id": 28741,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.745delT",
"hgvs_p": "p.Ser249fs"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 42,Congenital sensorineural hearing impairment,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2",
"phenotype_combined": "Congenital sensorineural hearing impairment|not provided|Autosomal recessive nonsyndromic hearing loss 42",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}