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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: 11-30925360-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=30925360&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 30925360,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001387274.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.2946T>A",
"hgvs_p": "p.Asn982Lys",
"transcript": "NM_001387274.1",
"protein_id": "NP_001374203.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1786,
"cds_start": 2946,
"cds_end": null,
"cds_length": 5361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684477.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387274.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.2946T>A",
"hgvs_p": "p.Asn982Lys",
"transcript": "ENST00000684477.1",
"protein_id": "ENSP00000507427.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1786,
"cds_start": 2946,
"cds_end": null,
"cds_length": 5361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001387274.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684477.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.2946T>A",
"hgvs_p": "p.Asn982Lys",
"transcript": "NM_001367979.1",
"protein_id": "NP_001354908.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1783,
"cds_start": 2946,
"cds_end": null,
"cds_length": 5352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367979.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.2946T>A",
"hgvs_p": "p.Asn982Lys",
"transcript": "ENST00000597505.5",
"protein_id": "ENSP00000472625.1",
"transcript_support_level": 5,
"aa_start": 982,
"aa_end": null,
"aa_length": 1783,
"cds_start": 2946,
"cds_end": null,
"cds_length": 5352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597505.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.267T>A",
"hgvs_p": "p.Asn89Lys",
"transcript": "NM_020869.4",
"protein_id": "NP_065920.2",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 890,
"cds_start": 267,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020869.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.267T>A",
"hgvs_p": "p.Asn89Lys",
"transcript": "ENST00000406071.6",
"protein_id": "ENSP00000385936.3",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 890,
"cds_start": 267,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406071.6"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.2946T>A",
"hgvs_p": "p.Asn982Lys",
"transcript": "XM_024448471.2",
"protein_id": "XP_024304239.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1786,
"cds_start": 2946,
"cds_end": null,
"cds_length": 5361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448471.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.2946T>A",
"hgvs_p": "p.Asn982Lys",
"transcript": "XM_024448472.2",
"protein_id": "XP_024304240.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1786,
"cds_start": 2946,
"cds_end": null,
"cds_length": 5361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448472.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.2946T>A",
"hgvs_p": "p.Asn982Lys",
"transcript": "XM_024448473.2",
"protein_id": "XP_024304241.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1786,
"cds_start": 2946,
"cds_end": null,
"cds_length": 5361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448473.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.2946T>A",
"hgvs_p": "p.Asn982Lys",
"transcript": "XM_047426876.1",
"protein_id": "XP_047282832.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1786,
"cds_start": 2946,
"cds_end": null,
"cds_length": 5361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426876.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.2946T>A",
"hgvs_p": "p.Asn982Lys",
"transcript": "XM_024448475.2",
"protein_id": "XP_024304243.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1768,
"cds_start": 2946,
"cds_end": null,
"cds_length": 5307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448475.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.2811T>A",
"hgvs_p": "p.Asn937Lys",
"transcript": "XM_024448476.2",
"protein_id": "XP_024304244.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 1741,
"cds_start": 2811,
"cds_end": null,
"cds_length": 5226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448476.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.2946T>A",
"hgvs_p": "p.Asn982Lys",
"transcript": "XM_024448477.2",
"protein_id": "XP_024304245.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1718,
"cds_start": 2946,
"cds_end": null,
"cds_length": 5157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448477.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.2646T>A",
"hgvs_p": "p.Asn882Lys",
"transcript": "XM_024448478.2",
"protein_id": "XP_024304246.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1686,
"cds_start": 2646,
"cds_end": null,
"cds_length": 5061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448478.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.2091T>A",
"hgvs_p": "p.Asn697Lys",
"transcript": "XM_024448480.2",
"protein_id": "XP_024304248.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1501,
"cds_start": 2091,
"cds_end": null,
"cds_length": 4506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448480.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.1962T>A",
"hgvs_p": "p.Asn654Lys",
"transcript": "XM_024448481.2",
"protein_id": "XP_024304249.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1458,
"cds_start": 1962,
"cds_end": null,
"cds_length": 4377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448481.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.2946T>A",
"hgvs_p": "p.Asn982Lys",
"transcript": "XM_024448482.2",
"protein_id": "XP_024304250.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1221,
"cds_start": 2946,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448482.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.-301T>A",
"hgvs_p": null,
"transcript": "NM_001387275.1",
"protein_id": "NP_001374204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": null,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387275.1"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "n.48T>A",
"hgvs_p": null,
"transcript": "ENST00000444572.6",
"protein_id": "ENSP00000404672.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000444572.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "n.581T>A",
"hgvs_p": null,
"transcript": "ENST00000483396.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000483396.5"
}
],
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"dbsnp": "rs144747891",
"frequency_reference_population": 0.00007126753,
"hom_count_reference_population": 0,
"allele_count_reference_population": 115,
"gnomad_exomes_af": 0.0000369475,
"gnomad_genomes_af": 0.000401036,
"gnomad_exomes_ac": 54,
"gnomad_genomes_ac": 61,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.015134155750274658,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.144,
"revel_prediction": "Benign",
"alphamissense_score": 0.4023,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.246,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001387274.1",
"gene_symbol": "DCDC1",
"hgnc_id": 20625,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2946T>A",
"hgvs_p": "p.Asn982Lys"
}
],
"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
}