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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: 11-30906655-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=30906655&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 30906655,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001387274.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.3989G>A",
"hgvs_p": "p.Arg1330Lys",
"transcript": "NM_001387274.1",
"protein_id": "NP_001374203.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1786,
"cds_start": 3989,
"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": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.3989G>A",
"hgvs_p": "p.Arg1330Lys",
"transcript": "ENST00000684477.1",
"protein_id": "ENSP00000507427.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1786,
"cds_start": 3989,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.3989G>A",
"hgvs_p": "p.Arg1330Lys",
"transcript": "NM_001367979.1",
"protein_id": "NP_001354908.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1783,
"cds_start": 3989,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.3989G>A",
"hgvs_p": "p.Arg1330Lys",
"transcript": "ENST00000597505.5",
"protein_id": "ENSP00000472625.1",
"transcript_support_level": 5,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1783,
"cds_start": 3989,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437Lys",
"transcript": "NM_020869.4",
"protein_id": "NP_065920.2",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 890,
"cds_start": 1310,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437Lys",
"transcript": "ENST00000406071.6",
"protein_id": "ENSP00000385936.3",
"transcript_support_level": 5,
"aa_start": 437,
"aa_end": null,
"aa_length": 890,
"cds_start": 1310,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Arg248Lys",
"transcript": "NM_001387275.1",
"protein_id": "NP_001374204.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 701,
"cds_start": 743,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.3989G>A",
"hgvs_p": "p.Arg1330Lys",
"transcript": "XM_024448471.2",
"protein_id": "XP_024304239.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1786,
"cds_start": 3989,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.3989G>A",
"hgvs_p": "p.Arg1330Lys",
"transcript": "XM_024448472.2",
"protein_id": "XP_024304240.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1786,
"cds_start": 3989,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.3989G>A",
"hgvs_p": "p.Arg1330Lys",
"transcript": "XM_024448473.2",
"protein_id": "XP_024304241.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1786,
"cds_start": 3989,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.3989G>A",
"hgvs_p": "p.Arg1330Lys",
"transcript": "XM_047426876.1",
"protein_id": "XP_047282832.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1786,
"cds_start": 3989,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.3935G>A",
"hgvs_p": "p.Arg1312Lys",
"transcript": "XM_024448475.2",
"protein_id": "XP_024304243.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1768,
"cds_start": 3935,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.3854G>A",
"hgvs_p": "p.Arg1285Lys",
"transcript": "XM_024448476.2",
"protein_id": "XP_024304244.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1741,
"cds_start": 3854,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.3989G>A",
"hgvs_p": "p.Arg1330Lys",
"transcript": "XM_024448477.2",
"protein_id": "XP_024304245.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1718,
"cds_start": 3989,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.3689G>A",
"hgvs_p": "p.Arg1230Lys",
"transcript": "XM_024448478.2",
"protein_id": "XP_024304246.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1686,
"cds_start": 3689,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.3134G>A",
"hgvs_p": "p.Arg1045Lys",
"transcript": "XM_024448480.2",
"protein_id": "XP_024304248.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1501,
"cds_start": 3134,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "c.3005G>A",
"hgvs_p": "p.Arg1002Lys",
"transcript": "XM_024448481.2",
"protein_id": "XP_024304249.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1458,
"cds_start": 3005,
"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": 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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "n.50G>A",
"hgvs_p": null,
"transcript": "ENST00000303697.8",
"protein_id": "ENSP00000306898.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000303697.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "n.230G>A",
"hgvs_p": null,
"transcript": "ENST00000429306.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000429306.2"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "n.1091G>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": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"hgvs_c": "n.1624G>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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LOC105376611",
"gene_hgnc_id": null,
"hgvs_c": "n.286+3055C>T",
"hgvs_p": null,
"transcript": "XR_007062642.1",
"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": "XR_007062642.1"
}
],
"gene_symbol": "DCDC1",
"gene_hgnc_id": 20625,
"dbsnp": null,
"frequency_reference_population": 6.842585e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84258e-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": 0.4789297580718994,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": 0.1783,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.972,
"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": 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_001387274.1",
"gene_symbol": "DCDC1",
"hgnc_id": 20625,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3989G>A",
"hgvs_p": "p.Arg1330Lys"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007062642.1",
"gene_symbol": "LOC105376611",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.286+3055C>T",
"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
}