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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: 17-8204979-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8204979&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AURKB",
"hgnc_id": 11390,
"hgvs_c": "c.930G>C",
"hgvs_p": "p.Arg310Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001284526.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.6163,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14454224705696106,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1243,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1035,
"cds_start": 927,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_004217.4",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.927G>C",
"hgvs_p": "p.Arg309Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000585124.6",
"protein_coding": true,
"protein_id": "NP_004208.2",
"strand": false,
"transcript": "NM_004217.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1243,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1035,
"cds_start": 927,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000585124.6",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.927G>C",
"hgvs_p": "p.Arg309Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004217.4",
"protein_coding": true,
"protein_id": "ENSP00000463999.1",
"strand": false,
"transcript": "ENST00000585124.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 345,
"aa_ref": "R",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1254,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1038,
"cds_start": 930,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000316199.10",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.930G>C",
"hgvs_p": "p.Arg310Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313950.6",
"strand": false,
"transcript": "ENST00000316199.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 312,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 939,
"cdna_start": 831,
"cds_end": null,
"cds_length": 939,
"cds_start": 831,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000578549.5",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.831G>C",
"hgvs_p": "p.Arg277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462207.1",
"strand": false,
"transcript": "ENST00000578549.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1044,
"cds_start": 936,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932573.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.936G>C",
"hgvs_p": "p.Arg312Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602632.1",
"strand": false,
"transcript": "ENST00000932573.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 346,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1294,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1041,
"cds_start": 933,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932561.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.933G>C",
"hgvs_p": "p.Arg311Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602620.1",
"strand": false,
"transcript": "ENST00000932561.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 345,
"aa_ref": "R",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1246,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1038,
"cds_start": 930,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001284526.2",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.930G>C",
"hgvs_p": "p.Arg310Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271455.1",
"strand": false,
"transcript": "NM_001284526.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 345,
"aa_ref": "R",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1251,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1038,
"cds_start": 930,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932564.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.930G>C",
"hgvs_p": "p.Arg310Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602623.1",
"strand": false,
"transcript": "ENST00000932564.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1219,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1035,
"cds_start": 927,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001313950.2",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.927G>C",
"hgvs_p": "p.Arg309Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001300879.1",
"strand": false,
"transcript": "NM_001313950.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1291,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1035,
"cds_start": 927,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000881953.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.927G>C",
"hgvs_p": "p.Arg309Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552012.1",
"strand": false,
"transcript": "ENST00000881953.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1516,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1035,
"cds_start": 927,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932557.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.927G>C",
"hgvs_p": "p.Arg309Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602616.1",
"strand": false,
"transcript": "ENST00000932557.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1354,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 1035,
"cds_start": 927,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932558.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.927G>C",
"hgvs_p": "p.Arg309Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602617.1",
"strand": false,
"transcript": "ENST00000932558.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1280,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1035,
"cds_start": 927,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932562.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.927G>C",
"hgvs_p": "p.Arg309Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602621.1",
"strand": false,
"transcript": "ENST00000932562.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 344,
"aa_ref": "R",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1356,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 1035,
"cds_start": 927,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932572.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.927G>C",
"hgvs_p": "p.Arg309Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602631.1",
"strand": false,
"transcript": "ENST00000932572.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 343,
"aa_ref": "R",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1258,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1032,
"cds_start": 924,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932567.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.924G>C",
"hgvs_p": "p.Arg308Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602626.1",
"strand": false,
"transcript": "ENST00000932567.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 342,
"aa_ref": "R",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1292,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1029,
"cds_start": 921,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932559.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.921G>C",
"hgvs_p": "p.Arg307Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602618.1",
"strand": false,
"transcript": "ENST00000932559.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1171,
"cdna_start": 930,
"cds_end": null,
"cds_length": 957,
"cds_start": 849,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932570.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.849G>C",
"hgvs_p": "p.Arg283Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602629.1",
"strand": false,
"transcript": "ENST00000932570.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 313,
"aa_ref": "R",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1203,
"cdna_start": 950,
"cds_end": null,
"cds_length": 942,
"cds_start": 834,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932560.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.834G>C",
"hgvs_p": "p.Arg278Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602619.1",
"strand": false,
"transcript": "ENST00000932560.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 312,
"aa_ref": "R",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1147,
"cdna_start": 902,
"cds_end": null,
"cds_length": 939,
"cds_start": 831,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001313953.3",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.831G>C",
"hgvs_p": "p.Arg277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001300882.1",
"strand": false,
"transcript": "NM_001313953.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 311,
"aa_ref": "R",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1180,
"cdna_start": 935,
"cds_end": null,
"cds_length": 936,
"cds_start": 828,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000932563.1",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.828G>C",
"hgvs_p": "p.Arg276Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602622.1",
"strand": false,
"transcript": "ENST00000932563.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 304,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1234,
"cdna_start": 989,
"cds_end": null,
"cds_length": 915,
"cds_start": 807,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001313952.2",
"gene_hgnc_id": 11390,
"gene_symbol": "AURKB",
"hgvs_c": "c.807G>C",
"hgvs_p": "p.Arg269Ser",
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