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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: 16-2108943-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2108943&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PKD1",
"hgnc_id": 9008,
"hgvs_c": "c.6224G>A",
"hgvs_p": "p.Arg2075His",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_001009944.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 532,
"alphamissense_prediction": null,
"alphamissense_score": 0.0872,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3523791432380676,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4303,
"aa_ref": "R",
"aa_start": 2075,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14140,
"cdna_start": 6433,
"cds_end": null,
"cds_length": 12912,
"cds_start": 6224,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001009944.3",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.6224G>A",
"hgvs_p": "p.Arg2075His",
"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": "H",
"aa_end": null,
"aa_length": 4303,
"aa_ref": "R",
"aa_start": 2075,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14140,
"cdna_start": 6433,
"cds_end": null,
"cds_length": 12912,
"cds_start": 6224,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000262304.9",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.6224G>A",
"hgvs_p": "p.Arg2075His",
"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": "H",
"aa_end": null,
"aa_length": 4302,
"aa_ref": "R",
"aa_start": 2075,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14135,
"cdna_start": 6433,
"cds_end": null,
"cds_length": 12909,
"cds_start": 6224,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000423118.5",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.6224G>A",
"hgvs_p": "p.Arg2075His",
"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": "H",
"aa_end": null,
"aa_length": 4302,
"aa_ref": "R",
"aa_start": 2075,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14137,
"cdna_start": 6433,
"cds_end": null,
"cds_length": 12909,
"cds_start": 6224,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_000296.4",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.6224G>A",
"hgvs_p": "p.Arg2075His",
"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": "H",
"aa_end": null,
"aa_length": 4348,
"aa_ref": "R",
"aa_start": 2120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14275,
"cdna_start": 6568,
"cds_end": null,
"cds_length": 13047,
"cds_start": 6359,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047434208.1",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.6359G>A",
"hgvs_p": "p.Arg2120His",
"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": "H",
"aa_end": null,
"aa_length": 4324,
"aa_ref": "R",
"aa_start": 2096,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14203,
"cdna_start": 6496,
"cds_end": null,
"cds_length": 12975,
"cds_start": 6287,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047434209.1",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.6287G>A",
"hgvs_p": "p.Arg2096His",
"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": "H",
"aa_end": null,
"aa_length": 4321,
"aa_ref": "R",
"aa_start": 2093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14174,
"cdna_start": 6467,
"cds_end": null,
"cds_length": 12966,
"cds_start": 6278,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011522528.4",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.6278G>A",
"hgvs_p": "p.Arg2093His",
"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": "H",
"aa_end": null,
"aa_length": 4320,
"aa_ref": "R",
"aa_start": 2093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14171,
"cdna_start": 6467,
"cds_end": null,
"cds_length": 12963,
"cds_start": 6278,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011522529.3",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.6278G>A",
"hgvs_p": "p.Arg2093His",
"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": "H",
"aa_end": null,
"aa_length": 4297,
"aa_ref": "R",
"aa_start": 2069,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15171,
"cdna_start": 7464,
"cds_end": null,
"cds_length": 12894,
"cds_start": 6206,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047434210.1",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.6206G>A",
"hgvs_p": "p.Arg2069His",
"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": "H",
"aa_end": null,
"aa_length": 4278,
"aa_ref": "R",
"aa_start": 2050,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14075,
"cdna_start": 6368,
"cds_end": null,
"cds_length": 12837,
"cds_start": 6149,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047434211.1",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.6149G>A",
"hgvs_p": "p.Arg2050His",
"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": "H",
"aa_end": null,
"aa_length": 3668,
"aa_ref": "R",
"aa_start": 1440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12127,
"cdna_start": 4420,
"cds_end": null,
"cds_length": 11007,
"cds_start": 4319,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047434212.1",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.4319G>A",
"hgvs_p": "p.Arg1440His",
"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": "H",
"aa_end": null,
"aa_length": 3329,
"aa_ref": "R",
"aa_start": 1101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11098,
"cdna_start": 3391,
"cds_end": null,
"cds_length": 9990,
"cds_start": 3302,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011522537.2",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.3302G>A",
"hgvs_p": "p.Arg1101His",
"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
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11092,
"cdna_start": 3385,
"cds_end": null,
"cds_length": 9984,
"cds_start": 3296,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047434213.1",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.3296G>A",
"hgvs_p": "p.Arg1099His",
"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": "H",
"aa_end": null,
"aa_length": 3288,
"aa_ref": "R",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11058,
"cdna_start": 3351,
"cds_end": null,
"cds_length": 9867,
"cds_start": 3179,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005255370.4",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.3179G>A",
"hgvs_p": "p.Arg1060His",
"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,
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"aa_length": 244,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 737,
"cdna_start": null,
"cds_end": null,
"cds_length": 735,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000488185.2",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.471-585G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456672.1",
"strand": false,
"transcript": "ENST00000488185.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 153,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 465,
"cdna_start": null,
"cds_end": null,
"cds_length": 463,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000483024.1",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "c.232-1995G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456670.1",
"strand": false,
"transcript": "ENST00000483024.1",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000487932.5",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "n.911G>A",
"hgvs_p": null,
"intron_rank": null,
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"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,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3386,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000415938.7",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "n.311-1995G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000415938.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4193,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000483731.5",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "n.791-1995G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000483731.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1976,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000565639.6",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "n.774-1995G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000565639.6",
"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": 2545,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000568591.5",
"gene_hgnc_id": 9008,
"gene_symbol": "PKD1",
"hgvs_c": "n.*1624-1995G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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{
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],
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}
]
}