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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: 12-63569312-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=63569312&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 63569312,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000324472.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2038A>C",
"hgvs_p": "p.Lys680Gln",
"transcript": "NM_173812.5",
"protein_id": "NP_776173.3",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 758,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": "ENST00000324472.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2038A>C",
"hgvs_p": "p.Lys680Gln",
"transcript": "ENST00000324472.9",
"protein_id": "ENSP00000315988.4",
"transcript_support_level": 1,
"aa_start": 680,
"aa_end": null,
"aa_length": 758,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": "NM_173812.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1978A>C",
"hgvs_p": "p.Lys660Gln",
"transcript": "XM_024448944.2",
"protein_id": "XP_024304712.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 738,
"cds_start": 1978,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2038A>C",
"hgvs_p": "p.Lys680Gln",
"transcript": "XM_047428721.1",
"protein_id": "XP_047284677.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 724,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 2326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1888A>C",
"hgvs_p": "p.Lys630Gln",
"transcript": "XM_017019192.3",
"protein_id": "XP_016874681.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 708,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1988,
"cdna_end": null,
"cdna_length": 3826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1735A>C",
"hgvs_p": "p.Lys579Gln",
"transcript": "XM_017019193.3",
"protein_id": "XP_016874682.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 657,
"cds_start": 1735,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1609A>C",
"hgvs_p": "p.Lys537Gln",
"transcript": "XM_024448946.2",
"protein_id": "XP_024304714.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 615,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1609A>C",
"hgvs_p": "p.Lys537Gln",
"transcript": "XM_024448947.2",
"protein_id": "XP_024304715.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 615,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1609A>C",
"hgvs_p": "p.Lys537Gln",
"transcript": "XM_047428722.1",
"protein_id": "XP_047284678.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 615,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 3687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1525A>C",
"hgvs_p": "p.Lys509Gln",
"transcript": "XM_011538215.3",
"protein_id": "XP_011536517.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 587,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 3863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1093A>C",
"hgvs_p": "p.Lys365Gln",
"transcript": "XM_047428728.1",
"protein_id": "XP_047284684.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 443,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1027A>C",
"hgvs_p": "p.Lys343Gln",
"transcript": "XM_011538218.4",
"protein_id": "XP_011536520.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 421,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "n.784A>C",
"hgvs_p": null,
"transcript": "ENST00000413230.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "n.*324A>C",
"hgvs_p": null,
"transcript": "ENST00000439061.6",
"protein_id": "ENSP00000437474.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "n.158A>C",
"hgvs_p": null,
"transcript": "ENST00000541911.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "n.*324A>C",
"hgvs_p": null,
"transcript": "ENST00000439061.6",
"protein_id": "ENSP00000437474.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.*69A>C",
"hgvs_p": null,
"transcript": "XM_047428723.1",
"protein_id": "XP_047284679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": -4,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.*5A>C",
"hgvs_p": null,
"transcript": "XM_047428725.1",
"protein_id": "XP_047284681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": -4,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2000+1446A>C",
"hgvs_p": null,
"transcript": "XM_024448945.2",
"protein_id": "XP_024304713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 716,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1680+1446A>C",
"hgvs_p": null,
"transcript": "XM_024448949.2",
"protein_id": "XP_024304717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": -4,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1530+1446A>C",
"hgvs_p": null,
"transcript": "XM_047428727.1",
"protein_id": "XP_047284683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"dbsnp": "rs587777205",
"frequency_reference_population": 0.00003315521,
"hom_count_reference_population": 0,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.0000331846,
"gnomad_genomes_af": 0.0000328761,
"gnomad_exomes_ac": 48,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2302226722240448,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.246,
"revel_prediction": "Benign",
"alphamissense_score": 0.2476,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.004,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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,BS1",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "ENST00000324472.9",
"gene_symbol": "DPY19L2",
"hgnc_id": 19414,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2038A>C",
"hgvs_p": "p.Lys680Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}