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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: 9-98751050-CTGA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=98751050&ref=CTGA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 98751050,
"ref": "CTGA",
"alt": "C",
"effect": "stop_gained,disruptive_inframe_deletion",
"transcript": "NM_173551.5",
"consequences": [
{
"aa_ref": "YQ",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS6",
"gene_hgnc_id": 26724,
"hgvs_c": "c.2370_2372delTCA",
"hgvs_p": "p.Tyr790_Gln791delinsTer",
"transcript": "NM_173551.5",
"protein_id": "NP_775822.3",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 871,
"cds_start": 2370,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000353234.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173551.5"
},
{
"aa_ref": "YQ",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS6",
"gene_hgnc_id": 26724,
"hgvs_c": "c.2370_2372delTCA",
"hgvs_p": "p.Tyr790_Gln791delinsTer",
"transcript": "ENST00000353234.5",
"protein_id": "ENSP00000297837.6",
"transcript_support_level": 1,
"aa_start": 790,
"aa_end": null,
"aa_length": 871,
"cds_start": 2370,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173551.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353234.5"
},
{
"aa_ref": "YQ",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS6",
"gene_hgnc_id": 26724,
"hgvs_c": "c.2052_2054delTCA",
"hgvs_p": "p.Tyr684_Gln685delinsTer",
"transcript": "ENST00000941017.1",
"protein_id": "ENSP00000611076.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 765,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941017.1"
},
{
"aa_ref": "YQ",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS6",
"gene_hgnc_id": 26724,
"hgvs_c": "c.2049_2051delTCA",
"hgvs_p": "p.Tyr683_Gln684delinsTer",
"transcript": "ENST00000927508.1",
"protein_id": "ENSP00000597567.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 764,
"cds_start": 2049,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927508.1"
},
{
"aa_ref": "YQ",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS6",
"gene_hgnc_id": 26724,
"hgvs_c": "c.1467_1469delTCA",
"hgvs_p": "p.Tyr489_Gln490delinsTer",
"transcript": "ENST00000375019.6",
"protein_id": "ENSP00000364159.2",
"transcript_support_level": 5,
"aa_start": 489,
"aa_end": null,
"aa_length": 584,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375019.6"
},
{
"aa_ref": "YQ",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS6",
"gene_hgnc_id": 26724,
"hgvs_c": "c.777_779delTCA",
"hgvs_p": "p.Tyr259_Gln260delinsTer",
"transcript": "ENST00000444472.5",
"protein_id": "ENSP00000398648.1",
"transcript_support_level": 2,
"aa_start": 259,
"aa_end": null,
"aa_length": 340,
"cds_start": 777,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444472.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS6",
"gene_hgnc_id": 26724,
"hgvs_c": "n.1470_1472delTCA",
"hgvs_p": null,
"transcript": "ENST00000634393.1",
"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": "ENST00000634393.1"
}
],
"gene_symbol": "ANKS6",
"gene_hgnc_id": 26724,
"dbsnp": "rs587777025",
"frequency_reference_population": 0.00002111489,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.000019887,
"gnomad_genomes_af": 0.0000328947,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 5,
"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": 0.05000000074505806,
"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": 9.249,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_173551.5",
"gene_symbol": "ANKS6",
"hgnc_id": 26724,
"effects": [
"stop_gained",
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2370_2372delTCA",
"hgvs_p": "p.Tyr790_Gln791delinsTer"
}
],
"clinvar_disease": "Nephronophthisis 16",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Nephronophthisis 16",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}