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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: 16-2097387-AGCCCATGGCCCGCCTGG-GGCCAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2097387&ref=AGCCCATGGCCCGCCTGG&alt=GGCCAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM4"
],
"effects": [
"missense_variant",
"disruptive_inframe_deletion"
],
"gene_symbol": "PKD1",
"hgnc_id": 9008,
"hgvs_c": "c.10320_10337delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": "p.Gln3441_Leu3446delinsTrpPro",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001009944.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGCCAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "GWP",
"aa_end": null,
"aa_length": 4303,
"aa_ref": "GQAGHGL",
"aa_start": 3440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14140,
"cdna_start": 10546,
"cds_end": null,
"cds_length": 12912,
"cds_start": 10320,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001009944.3",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.10320_10337delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": "p.Gln3441_Leu3446delinsTrpPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262304.9",
"protein_coding": true,
"protein_id": "NP_001009944.3",
"strand": false,
"transcript": "NM_001009944.3",
"transcript_support_level": null
},
{
"aa_alt": "GWP",
"aa_end": null,
"aa_length": 4303,
"aa_ref": "GQAGHGL",
"aa_start": 3440,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14140,
"cdna_start": 10546,
"cds_end": null,
"cds_length": 12912,
"cds_start": 10320,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262304.9",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.10320_10337delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": "p.Gln3441_Leu3446delinsTrpPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001009944.3",
"protein_coding": true,
"protein_id": "ENSP00000262304.4",
"strand": false,
"transcript": "ENST00000262304.9",
"transcript_support_level": 1
},
{
"aa_alt": "GWP",
"aa_end": null,
"aa_length": 4302,
"aa_ref": "GQAGHGL",
"aa_start": 3439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14135,
"cdna_start": 10543,
"cds_end": null,
"cds_length": 12909,
"cds_start": 10317,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000423118.5",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.10317_10334delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": "p.Gln3440_Leu3445delinsTrpPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399501.1",
"strand": false,
"transcript": "ENST00000423118.5",
"transcript_support_level": 1
},
{
"aa_alt": "GWP",
"aa_end": null,
"aa_length": 4302,
"aa_ref": "GQAGHGL",
"aa_start": 3439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14137,
"cdna_start": 10543,
"cds_end": null,
"cds_length": 12909,
"cds_start": 10317,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000296.4",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.10317_10334delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": "p.Gln3440_Leu3445delinsTrpPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000287.4",
"strand": false,
"transcript": "NM_000296.4",
"transcript_support_level": null
},
{
"aa_alt": "GWP",
"aa_end": null,
"aa_length": 4348,
"aa_ref": "GQAGHGL",
"aa_start": 3485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14275,
"cdna_start": 10681,
"cds_end": null,
"cds_length": 13047,
"cds_start": 10455,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434208.1",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.10455_10472delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": "p.Gln3486_Leu3491delinsTrpPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290164.1",
"strand": false,
"transcript": "XM_047434208.1",
"transcript_support_level": null
},
{
"aa_alt": "GWP",
"aa_end": null,
"aa_length": 4324,
"aa_ref": "GQAGHGL",
"aa_start": 3461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14203,
"cdna_start": 10609,
"cds_end": null,
"cds_length": 12975,
"cds_start": 10383,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434209.1",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.10383_10400delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": "p.Gln3462_Leu3467delinsTrpPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290165.1",
"strand": false,
"transcript": "XM_047434209.1",
"transcript_support_level": null
},
{
"aa_alt": "GWP",
"aa_end": null,
"aa_length": 4321,
"aa_ref": "GQAGHGL",
"aa_start": 3458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14174,
"cdna_start": 10580,
"cds_end": null,
"cds_length": 12966,
"cds_start": 10374,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522528.4",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.10374_10391delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": "p.Gln3459_Leu3464delinsTrpPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520830.1",
"strand": false,
"transcript": "XM_011522528.4",
"transcript_support_level": null
},
{
"aa_alt": "GWP",
"aa_end": null,
"aa_length": 4320,
"aa_ref": "GQAGHGL",
"aa_start": 3457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14171,
"cdna_start": 10577,
"cds_end": null,
"cds_length": 12963,
"cds_start": 10371,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522529.3",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.10371_10388delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": "p.Gln3458_Leu3463delinsTrpPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520831.1",
"strand": false,
"transcript": "XM_011522529.3",
"transcript_support_level": null
},
{
"aa_alt": "GWP",
"aa_end": null,
"aa_length": 4297,
"aa_ref": "GQAGHGL",
"aa_start": 3434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15171,
"cdna_start": 11577,
"cds_end": null,
"cds_length": 12894,
"cds_start": 10302,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434210.1",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.10302_10319delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": "p.Gln3435_Leu3440delinsTrpPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290166.1",
"strand": false,
"transcript": "XM_047434210.1",
"transcript_support_level": null
},
{
"aa_alt": "GWP",
"aa_end": null,
"aa_length": 4278,
"aa_ref": "GQAGHGL",
"aa_start": 3415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14075,
"cdna_start": 10481,
"cds_end": null,
"cds_length": 12837,
"cds_start": 10245,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434211.1",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.10245_10262delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": "p.Gln3416_Leu3421delinsTrpPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290167.1",
"strand": false,
"transcript": "XM_047434211.1",
"transcript_support_level": null
},
{
"aa_alt": "GWP",
"aa_end": null,
"aa_length": 3668,
"aa_ref": "GQAGHGL",
"aa_start": 2805,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12127,
"cdna_start": 8533,
"cds_end": null,
"cds_length": 11007,
"cds_start": 8415,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434212.1",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.8415_8432delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": "p.Gln2806_Leu2811delinsTrpPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290168.1",
"strand": false,
"transcript": "XM_047434212.1",
"transcript_support_level": null
},
{
"aa_alt": "GWP",
"aa_end": null,
"aa_length": 3329,
"aa_ref": "GQAGHGL",
"aa_start": 2466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11098,
"cdna_start": 7504,
"cds_end": null,
"cds_length": 9990,
"cds_start": 7398,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522537.2",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.7398_7415delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": "p.Gln2467_Leu2472delinsTrpPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011520839.1",
"strand": false,
"transcript": "XM_011522537.2",
"transcript_support_level": null
},
{
"aa_alt": "GWP",
"aa_end": null,
"aa_length": 3327,
"aa_ref": "GQAGHGL",
"aa_start": 2464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11092,
"cdna_start": 7498,
"cds_end": null,
"cds_length": 9984,
"cds_start": 7392,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434213.1",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.7392_7409delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": "p.Gln2465_Leu2470delinsTrpPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290169.1",
"strand": false,
"transcript": "XM_047434213.1",
"transcript_support_level": null
},
{
"aa_alt": "GWP",
"aa_end": null,
"aa_length": 3288,
"aa_ref": "GQAGHGL",
"aa_start": 2425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11058,
"cdna_start": 7464,
"cds_end": null,
"cds_length": 9867,
"cds_start": 7275,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005255370.4",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.7275_7292delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": "p.Gln2426_Leu2431delinsTrpPro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255427.1",
"strand": false,
"transcript": "XM_005255370.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6464,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000487932.5",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "n.*1513_*1530delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457132.1",
"strand": false,
"transcript": "ENST00000487932.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6464,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000487932.5",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "n.*1513_*1530delCCAGGCGGGCCATGGGCTinsATGGCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457132.1",
"strand": false,
"transcript": "ENST00000487932.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1555448280",
"effect": "missense_variant,disruptive_inframe_deletion",
"frequency_reference_population": null,
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.423,
"pos": 2097387,
"ref": "AGCCCATGGCCCGCCTGG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001009944.3"
}
]
}