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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: 10-26697793-CG-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=26697793&ref=CG&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 26697793,
"ref": "CG",
"alt": "GC",
"effect": "missense_variant",
"transcript": "NM_014317.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDSS1",
"gene_hgnc_id": 17759,
"hgvs_c": "c.82_83delCGinsGC",
"hgvs_p": "p.Arg28Ala",
"transcript": "NM_014317.5",
"protein_id": "NP_055132.2",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 415,
"cds_start": 82,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": "ENST00000376215.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014317.5"
},
{
"aa_ref": "R",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDSS1",
"gene_hgnc_id": 17759,
"hgvs_c": "c.82_83delCGinsGC",
"hgvs_p": "p.Arg28Ala",
"transcript": "ENST00000376215.10",
"protein_id": "ENSP00000365388.5",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 415,
"cds_start": 82,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": "NM_014317.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376215.10"
},
{
"aa_ref": "R",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDSS1",
"gene_hgnc_id": 17759,
"hgvs_c": "c.82_83delCGinsGC",
"hgvs_p": "p.Arg28Ala",
"transcript": "ENST00000917009.1",
"protein_id": "ENSP00000587068.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 388,
"cds_start": 82,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 116,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917009.1"
},
{
"aa_ref": "R",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDSS1",
"gene_hgnc_id": 17759,
"hgvs_c": "c.82_83delCGinsGC",
"hgvs_p": "p.Arg28Ala",
"transcript": "ENST00000869579.1",
"protein_id": "ENSP00000539638.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 357,
"cds_start": 82,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 1398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869579.1"
},
{
"aa_ref": "R",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDSS1",
"gene_hgnc_id": 17759,
"hgvs_c": "c.82_83delCGinsGC",
"hgvs_p": "p.Arg28Ala",
"transcript": "ENST00000944250.1",
"protein_id": "ENSP00000614309.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 350,
"cds_start": 82,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 105,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944250.1"
},
{
"aa_ref": "R",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDSS1",
"gene_hgnc_id": 17759,
"hgvs_c": "c.82_83delCGinsGC",
"hgvs_p": "p.Arg28Ala",
"transcript": "ENST00000869578.1",
"protein_id": "ENSP00000539637.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 335,
"cds_start": 82,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 116,
"cdna_end": null,
"cdna_length": 1367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869578.1"
},
{
"aa_ref": "R",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDSS1",
"gene_hgnc_id": 17759,
"hgvs_c": "c.82_83delCGinsGC",
"hgvs_p": "p.Arg28Ala",
"transcript": "NM_001321978.2",
"protein_id": "NP_001308907.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 306,
"cds_start": 82,
"cds_end": null,
"cds_length": 921,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 1393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321978.2"
},
{
"aa_ref": "R",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDSS1",
"gene_hgnc_id": 17759,
"hgvs_c": "c.82_83delCGinsGC",
"hgvs_p": "p.Arg28Ala",
"transcript": "ENST00000917008.1",
"protein_id": "ENSP00000587067.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 255,
"cds_start": 82,
"cds_end": null,
"cds_length": 768,
"cdna_start": 125,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917008.1"
},
{
"aa_ref": "R",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDSS1",
"gene_hgnc_id": 17759,
"hgvs_c": "c.82_83delCGinsGC",
"hgvs_p": "p.Arg28Ala",
"transcript": "ENST00000944249.1",
"protein_id": "ENSP00000614308.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 250,
"cds_start": 82,
"cds_end": null,
"cds_length": 753,
"cdna_start": 118,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944249.1"
},
{
"aa_ref": "R",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDSS1",
"gene_hgnc_id": 17759,
"hgvs_c": "c.82_83delCGinsGC",
"hgvs_p": "p.Arg28Ala",
"transcript": "XM_024447922.2",
"protein_id": "XP_024303690.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 355,
"cds_start": 82,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 1656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447922.2"
},
{
"aa_ref": "R",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDSS1",
"gene_hgnc_id": 17759,
"hgvs_c": "c.82_83delCGinsGC",
"hgvs_p": "p.Arg28Ala",
"transcript": "XM_047424933.1",
"protein_id": "XP_047280889.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 290,
"cds_start": 82,
"cds_end": null,
"cds_length": 873,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424933.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDSS1",
"gene_hgnc_id": 17759,
"hgvs_c": "c.-512_-511delCGinsGC",
"hgvs_p": null,
"transcript": "NM_001321979.2",
"protein_id": "NP_001308908.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321979.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000279212",
"gene_hgnc_id": null,
"hgvs_c": "n.-169_-168delCGinsGC",
"hgvs_p": null,
"transcript": "ENST00000623958.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": "TEC",
"feature": "ENST00000623958.1"
}
],
"gene_symbol": "PDSS1",
"gene_hgnc_id": 17759,
"dbsnp": null,
"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": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.806,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_014317.5",
"gene_symbol": "PDSS1",
"hgnc_id": 17759,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.82_83delCGinsGC",
"hgvs_p": "p.Arg28Ala"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000623958.1",
"gene_symbol": "ENSG00000279212",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-169_-168delCGinsGC",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}