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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: 22-42596262-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42596262&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42596262,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001278657.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.737G>C",
"hgvs_p": "p.Arg246Pro",
"transcript": "NM_032311.5",
"protein_id": "NP_115687.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 421,
"cds_start": 737,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000252115.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032311.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.737G>C",
"hgvs_p": "p.Arg246Pro",
"transcript": "ENST00000252115.10",
"protein_id": "ENSP00000252115.5",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 421,
"cds_start": 737,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032311.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252115.10"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.650G>C",
"hgvs_p": "p.Arg217Pro",
"transcript": "ENST00000348657.6",
"protein_id": "ENSP00000252116.5",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 392,
"cds_start": 650,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348657.6"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.450+6508G>C",
"hgvs_p": null,
"transcript": "ENST00000339677.10",
"protein_id": "ENSP00000343060.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": null,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339677.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "n.737G>C",
"hgvs_p": null,
"transcript": "ENST00000445215.5",
"protein_id": "ENSP00000415234.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000445215.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289517",
"gene_hgnc_id": null,
"hgvs_c": "n.*1598G>C",
"hgvs_p": null,
"transcript": "ENST00000617178.5",
"protein_id": "ENSP00000482500.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000617178.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289517",
"gene_hgnc_id": null,
"hgvs_c": "n.*1598G>C",
"hgvs_p": null,
"transcript": "ENST00000617178.5",
"protein_id": "ENSP00000482500.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000617178.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.788G>C",
"hgvs_p": "p.Arg263Pro",
"transcript": "NM_001278657.2",
"protein_id": "NP_001265586.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 438,
"cds_start": 788,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278657.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.788G>C",
"hgvs_p": "p.Arg263Pro",
"transcript": "ENST00000451060.6",
"protein_id": "ENSP00000397927.3",
"transcript_support_level": 2,
"aa_start": 263,
"aa_end": null,
"aa_length": 438,
"cds_start": 788,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451060.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.737G>C",
"hgvs_p": "p.Arg246Pro",
"transcript": "ENST00000929278.1",
"protein_id": "ENSP00000599337.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 431,
"cds_start": 737,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929278.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.737G>C",
"hgvs_p": "p.Arg246Pro",
"transcript": "ENST00000929276.1",
"protein_id": "ENSP00000599335.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 420,
"cds_start": 737,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929276.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.728G>C",
"hgvs_p": "p.Arg243Pro",
"transcript": "ENST00000897331.1",
"protein_id": "ENSP00000567390.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 418,
"cds_start": 728,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897331.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.650G>C",
"hgvs_p": "p.Arg217Pro",
"transcript": "NM_178136.3",
"protein_id": "NP_835237.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 392,
"cds_start": 650,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178136.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.650G>C",
"hgvs_p": "p.Arg217Pro",
"transcript": "ENST00000929279.1",
"protein_id": "ENSP00000599338.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 391,
"cds_start": 650,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929279.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.641G>C",
"hgvs_p": "p.Arg214Pro",
"transcript": "ENST00000897330.1",
"protein_id": "ENSP00000567389.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 389,
"cds_start": 641,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897330.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.554G>C",
"hgvs_p": "p.Arg185Pro",
"transcript": "ENST00000957046.1",
"protein_id": "ENSP00000627105.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 360,
"cds_start": 554,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957046.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.737G>C",
"hgvs_p": "p.Arg246Pro",
"transcript": "NM_001363052.2",
"protein_id": "NP_001349981.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 342,
"cds_start": 737,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363052.2"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.633+3436G>C",
"hgvs_p": null,
"transcript": "ENST00000929277.1",
"protein_id": "ENSP00000599336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929277.1"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.546+3436G>C",
"hgvs_p": null,
"transcript": "ENST00000929280.1",
"protein_id": "ENSP00000599339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": null,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929280.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "n.595G>C",
"hgvs_p": null,
"transcript": "ENST00000491021.1",
"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": "ENST00000491021.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "n.763G>C",
"hgvs_p": null,
"transcript": "NR_103820.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_103820.2"
}
],
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"dbsnp": "rs200124663",
"frequency_reference_population": 0.0000054724355,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547244,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36131563782691956,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.148,
"revel_prediction": "Benign",
"alphamissense_score": 0.211,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.583,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001278657.2",
"gene_symbol": "POLDIP3",
"hgnc_id": 23782,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.788G>C",
"hgvs_p": "p.Arg263Pro"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000617178.5",
"gene_symbol": "ENSG00000289517",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1598G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}