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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: 10-68445039-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=68445039&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 68445039,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001080449.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368Cys",
"transcript": "NM_001080449.3",
"protein_id": "NP_001073918.2",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 1060,
"cds_start": 1102,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": "ENST00000358410.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080449.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368Cys",
"transcript": "ENST00000358410.8",
"protein_id": "ENSP00000351185.3",
"transcript_support_level": 1,
"aa_start": 368,
"aa_end": null,
"aa_length": 1060,
"cds_start": 1102,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": "NM_001080449.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358410.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368Cys",
"transcript": "ENST00000551118.6",
"protein_id": "ENSP00000450393.3",
"transcript_support_level": 5,
"aa_start": 368,
"aa_end": null,
"aa_length": 867,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551118.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399Cys",
"transcript": "ENST00000936797.1",
"protein_id": "ENSP00000606856.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 1091,
"cds_start": 1195,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 4339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936797.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368Cys",
"transcript": "ENST00000936795.1",
"protein_id": "ENSP00000606854.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 1025,
"cds_start": 1102,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 4148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936795.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Cys",
"transcript": "ENST00000936796.1",
"protein_id": "ENSP00000606855.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 1016,
"cds_start": 970,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936796.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.919C>T",
"hgvs_p": "p.Arg307Cys",
"transcript": "ENST00000936799.1",
"protein_id": "ENSP00000606858.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 999,
"cds_start": 919,
"cds_end": null,
"cds_length": 3000,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936799.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368Cys",
"transcript": "ENST00000936792.1",
"protein_id": "ENSP00000606851.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 983,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 4036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936792.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368Cys",
"transcript": "ENST00000936791.1",
"protein_id": "ENSP00000606850.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 970,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 3997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936791.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368Cys",
"transcript": "ENST00000936794.1",
"protein_id": "ENSP00000606853.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 953,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936794.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.919C>T",
"hgvs_p": "p.Arg307Cys",
"transcript": "ENST00000936793.1",
"protein_id": "ENSP00000606852.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 922,
"cds_start": 919,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 3851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936793.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368Cys",
"transcript": "ENST00000936790.1",
"protein_id": "ENSP00000606849.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 897,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 3779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936790.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368Cys",
"transcript": "ENST00000936801.1",
"protein_id": "ENSP00000606860.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 822,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 3493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936801.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Arg398Cys",
"transcript": "XM_006717680.3",
"protein_id": "XP_006717743.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 1090,
"cds_start": 1192,
"cds_end": null,
"cds_length": 3273,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 4647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717680.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Arg144Cys",
"transcript": "XM_017015799.1",
"protein_id": "XP_016871288.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 836,
"cds_start": 430,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015799.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Arg8Cys",
"transcript": "XM_011539417.1",
"protein_id": "XP_011537719.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 700,
"cds_start": 22,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 135,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539417.1"
},
{
"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": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.1057+1257C>T",
"hgvs_p": null,
"transcript": "ENST00000941878.1",
"protein_id": "ENSP00000611937.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": null,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941878.1"
},
{
"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": 18,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.720-1928C>T",
"hgvs_p": null,
"transcript": "ENST00000936800.1",
"protein_id": "ENSP00000606859.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": null,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936800.1"
},
{
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "c.720-7798C>T",
"hgvs_p": null,
"transcript": "ENST00000936798.1",
"protein_id": "ENSP00000606857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": null,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936798.1"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "n.1102C>T",
"hgvs_p": null,
"transcript": "ENST00000399179.6",
"protein_id": "ENSP00000382132.3",
"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": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000399179.6"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"hgvs_c": "n.1191C>T",
"hgvs_p": null,
"transcript": "NR_102264.2",
"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": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_102264.2"
}
],
"gene_symbol": "DNA2",
"gene_hgnc_id": 2939,
"dbsnp": "rs555751651",
"frequency_reference_population": 0.0000074531476,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000480122,
"gnomad_genomes_af": 0.000032874,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31200623512268066,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3199999928474426,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.525,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.124,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.066,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.32,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001080449.3",
"gene_symbol": "DNA2",
"hgnc_id": 2939,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368Cys"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not specified|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}