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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: 22-42585873-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42585873&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42585873,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001278657.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1184C>G",
"hgvs_p": "p.Pro395Arg",
"transcript": "NM_032311.5",
"protein_id": "NP_115687.2",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 421,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": "ENST00000252115.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032311.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1184C>G",
"hgvs_p": "p.Pro395Arg",
"transcript": "ENST00000252115.10",
"protein_id": "ENSP00000252115.5",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 421,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": "NM_032311.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252115.10"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1097C>G",
"hgvs_p": "p.Pro366Arg",
"transcript": "ENST00000348657.6",
"protein_id": "ENSP00000252116.5",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 392,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 3323,
"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.451-557C>G",
"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": 783,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "n.*327C>G",
"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": 3337,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289517",
"gene_hgnc_id": null,
"hgvs_c": "n.*2045C>G",
"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": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000617178.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "n.*327C>G",
"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": 3337,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289517",
"gene_hgnc_id": null,
"hgvs_c": "n.*2045C>G",
"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": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000617178.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1235C>G",
"hgvs_p": "p.Pro412Arg",
"transcript": "NM_001278657.2",
"protein_id": "NP_001265586.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 438,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 3413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278657.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1235C>G",
"hgvs_p": "p.Pro412Arg",
"transcript": "ENST00000451060.6",
"protein_id": "ENSP00000397927.3",
"transcript_support_level": 2,
"aa_start": 412,
"aa_end": null,
"aa_length": 438,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451060.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1214C>G",
"hgvs_p": "p.Pro405Arg",
"transcript": "ENST00000929278.1",
"protein_id": "ENSP00000599337.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 431,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 3403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929278.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1181C>G",
"hgvs_p": "p.Pro394Arg",
"transcript": "ENST00000929276.1",
"protein_id": "ENSP00000599335.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 420,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929276.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1175C>G",
"hgvs_p": "p.Pro392Arg",
"transcript": "ENST00000897331.1",
"protein_id": "ENSP00000567390.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 418,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 1458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897331.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1097C>G",
"hgvs_p": "p.Pro366Arg",
"transcript": "NM_178136.3",
"protein_id": "NP_835237.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 392,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178136.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1094C>G",
"hgvs_p": "p.Pro365Arg",
"transcript": "ENST00000929279.1",
"protein_id": "ENSP00000599338.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 391,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929279.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1088C>G",
"hgvs_p": "p.Pro363Arg",
"transcript": "ENST00000897330.1",
"protein_id": "ENSP00000567389.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 389,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897330.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1001C>G",
"hgvs_p": "p.Pro334Arg",
"transcript": "ENST00000957046.1",
"protein_id": "ENSP00000627105.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 360,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957046.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.926C>G",
"hgvs_p": "p.Pro309Arg",
"transcript": "ENST00000929277.1",
"protein_id": "ENSP00000599336.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 335,
"cds_start": 926,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929277.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.839C>G",
"hgvs_p": "p.Pro280Arg",
"transcript": "ENST00000929280.1",
"protein_id": "ENSP00000599339.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 306,
"cds_start": 839,
"cds_end": null,
"cds_length": 921,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 3016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929280.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.*88C>G",
"hgvs_p": null,
"transcript": "NM_001363052.2",
"protein_id": "NP_001349981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": null,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363052.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "n.1199C>G",
"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": 3351,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_103820.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "n.*14C>G",
"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": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491021.1"
}
],
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"dbsnp": null,
"frequency_reference_population": 6.844093e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84409e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5255910754203796,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.509,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8615,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.461,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001278657.2",
"gene_symbol": "POLDIP3",
"hgnc_id": 23782,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1235C>G",
"hgvs_p": "p.Pro412Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000617178.5",
"gene_symbol": "ENSG00000289517",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*2045C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}