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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: 22-42587554-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42587554&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42587554,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001278657.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1040A>G",
"hgvs_p": "p.Asn347Ser",
"transcript": "NM_032311.5",
"protein_id": "NP_115687.2",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 421,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": "ENST00000252115.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032311.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1040A>G",
"hgvs_p": "p.Asn347Ser",
"transcript": "ENST00000252115.10",
"protein_id": "ENSP00000252115.5",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 421,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": "NM_032311.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252115.10"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.953A>G",
"hgvs_p": "p.Asn318Ser",
"transcript": "ENST00000348657.6",
"protein_id": "ENSP00000252116.5",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 392,
"cds_start": 953,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1027,
"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.451-2238A>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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "n.*183A>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": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289517",
"gene_hgnc_id": null,
"hgvs_c": "n.*1901A>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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "n.*183A>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": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289517",
"gene_hgnc_id": null,
"hgvs_c": "n.*1901A>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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1091A>G",
"hgvs_p": "p.Asn364Ser",
"transcript": "NM_001278657.2",
"protein_id": "NP_001265586.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 438,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 3413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278657.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1091A>G",
"hgvs_p": "p.Asn364Ser",
"transcript": "ENST00000451060.6",
"protein_id": "ENSP00000397927.3",
"transcript_support_level": 2,
"aa_start": 364,
"aa_end": null,
"aa_length": 438,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451060.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1040A>G",
"hgvs_p": "p.Asn347Ser",
"transcript": "ENST00000929278.1",
"protein_id": "ENSP00000599337.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 431,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 3403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929278.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Asn346Ser",
"transcript": "ENST00000929276.1",
"protein_id": "ENSP00000599335.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 420,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929276.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.Asn344Ser",
"transcript": "ENST00000897331.1",
"protein_id": "ENSP00000567390.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 418,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 1458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897331.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.953A>G",
"hgvs_p": "p.Asn318Ser",
"transcript": "NM_178136.3",
"protein_id": "NP_835237.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 392,
"cds_start": 953,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178136.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.950A>G",
"hgvs_p": "p.Asn317Ser",
"transcript": "ENST00000929279.1",
"protein_id": "ENSP00000599338.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 391,
"cds_start": 950,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929279.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.944A>G",
"hgvs_p": "p.Asn315Ser",
"transcript": "ENST00000897330.1",
"protein_id": "ENSP00000567389.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 389,
"cds_start": 944,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897330.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.857A>G",
"hgvs_p": "p.Asn286Ser",
"transcript": "ENST00000957046.1",
"protein_id": "ENSP00000627105.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 360,
"cds_start": 857,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957046.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Asn261Ser",
"transcript": "ENST00000929277.1",
"protein_id": "ENSP00000599336.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 335,
"cds_start": 782,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929277.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Asn232Ser",
"transcript": "ENST00000929280.1",
"protein_id": "ENSP00000599339.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 306,
"cds_start": 695,
"cds_end": null,
"cds_length": 921,
"cdna_start": 721,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "c.1022-1586A>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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "n.898A>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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"hgvs_c": "n.1055A>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"
}
],
"gene_symbol": "POLDIP3",
"gene_hgnc_id": 23782,
"dbsnp": "rs200840342",
"frequency_reference_population": 0.00013382966,
"hom_count_reference_population": 2,
"allele_count_reference_population": 216,
"gnomad_exomes_af": 0.000125872,
"gnomad_genomes_af": 0.000210263,
"gnomad_exomes_ac": 184,
"gnomad_genomes_ac": 32,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07485955953598022,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.2556,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.676,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001278657.2",
"gene_symbol": "POLDIP3",
"hgnc_id": 23782,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1091A>G",
"hgvs_p": "p.Asn364Ser"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000617178.5",
"gene_symbol": "ENSG00000289517",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1901A>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
}