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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: 16-4797495-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4797495&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ROGDI",
"hgnc_id": 29478,
"hgvs_c": "c.829G>C",
"hgvs_p": "p.Val277Leu",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_024589.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000285952",
"hgnc_id": null,
"hgvs_c": "n.1412+219G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000649556.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.6778,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Amelocerebrohypohidrotic syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8988004922866821,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 287,
"aa_ref": "V",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1418,
"cdna_start": 891,
"cds_end": null,
"cds_length": 864,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_024589.3",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.829G>C",
"hgvs_p": "p.Val277Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000322048.12",
"protein_coding": true,
"protein_id": "NP_078865.1",
"strand": false,
"transcript": "NM_024589.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 287,
"aa_ref": "V",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1418,
"cdna_start": 891,
"cds_end": null,
"cds_length": 864,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000322048.12",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.829G>C",
"hgvs_p": "p.Val277Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024589.3",
"protein_coding": true,
"protein_id": "ENSP00000322832.6",
"strand": false,
"transcript": "ENST00000322048.12",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 300,
"aa_ref": "V",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 991,
"cds_end": null,
"cds_length": 903,
"cds_start": 868,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907806.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.868G>C",
"hgvs_p": "p.Val290Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577865.1",
"strand": false,
"transcript": "ENST00000907806.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 294,
"aa_ref": "V",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 885,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000912071.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Val284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582130.1",
"strand": false,
"transcript": "ENST00000912071.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 293,
"aa_ref": "V",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1495,
"cdna_start": 969,
"cds_end": null,
"cds_length": 882,
"cds_start": 847,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000968425.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.847G>C",
"hgvs_p": "p.Val283Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638484.1",
"strand": false,
"transcript": "ENST00000968425.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 292,
"aa_ref": "V",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1702,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 879,
"cds_start": 844,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907805.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.844G>C",
"hgvs_p": "p.Val282Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577864.1",
"strand": false,
"transcript": "ENST00000907805.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 286,
"aa_ref": "V",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 861,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000912072.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.826G>C",
"hgvs_p": "p.Val276Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582131.1",
"strand": false,
"transcript": "ENST00000912072.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 286,
"aa_ref": "V",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1383,
"cdna_start": 856,
"cds_end": null,
"cds_length": 861,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000912073.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.826G>C",
"hgvs_p": "p.Val276Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582132.1",
"strand": false,
"transcript": "ENST00000912073.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 285,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": 889,
"cds_end": null,
"cds_length": 858,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907810.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.823G>C",
"hgvs_p": "p.Val275Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577869.1",
"strand": false,
"transcript": "ENST00000907810.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 284,
"aa_ref": "V",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 915,
"cds_end": null,
"cds_length": 855,
"cds_start": 820,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907809.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.820G>C",
"hgvs_p": "p.Val274Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577868.1",
"strand": false,
"transcript": "ENST00000907809.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 270,
"aa_ref": "V",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1400,
"cdna_start": 873,
"cds_end": null,
"cds_length": 813,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907808.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.778G>C",
"hgvs_p": "p.Val260Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577867.1",
"strand": false,
"transcript": "ENST00000907808.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 263,
"aa_ref": "V",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 1112,
"cds_end": null,
"cds_length": 792,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907804.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.757G>C",
"hgvs_p": "p.Val253Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577863.1",
"strand": false,
"transcript": "ENST00000907804.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 254,
"aa_ref": "V",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1323,
"cdna_start": 796,
"cds_end": null,
"cds_length": 765,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000968427.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.730G>C",
"hgvs_p": "p.Val244Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638486.1",
"strand": false,
"transcript": "ENST00000968427.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 241,
"aa_ref": "V",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1319,
"cdna_start": 792,
"cds_end": null,
"cds_length": 726,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907807.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.691G>C",
"hgvs_p": "p.Val231Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577866.1",
"strand": false,
"transcript": "ENST00000907807.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 236,
"aa_ref": "V",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1300,
"cdna_start": 774,
"cds_end": null,
"cds_length": 711,
"cds_start": 676,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000968426.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.676G>C",
"hgvs_p": "p.Val226Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638485.1",
"strand": false,
"transcript": "ENST00000968426.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 217,
"aa_ref": "V",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1210,
"cdna_start": 684,
"cds_end": null,
"cds_length": 654,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907811.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.619G>C",
"hgvs_p": "p.Val207Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577870.1",
"strand": false,
"transcript": "ENST00000907811.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 215,
"aa_ref": "R",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 651,
"cdna_start": 559,
"cds_end": null,
"cds_length": 649,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000586504.5",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.557G>C",
"hgvs_p": "p.Arg186Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465076.1",
"strand": false,
"transcript": "ENST00000586504.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 72,
"aa_ref": "V",
"aa_start": 62,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 371,
"cdna_start": 185,
"cds_end": null,
"cds_length": 219,
"cds_start": 184,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000592019.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.184G>C",
"hgvs_p": "p.Val62Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468334.1",
"strand": false,
"transcript": "ENST00000592019.1",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 294,
"aa_ref": "V",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1439,
"cdna_start": 912,
"cds_end": null,
"cds_length": 885,
"cds_start": 850,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_006720947.5",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.850G>C",
"hgvs_p": "p.Val284Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721010.1",
"strand": false,
"transcript": "XM_006720947.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 204,
"aa_ref": "V",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1272,
"cdna_start": 745,
"cds_end": null,
"cds_length": 615,
"cds_start": 580,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047434636.1",
"gene_hgnc_id": 29478,
"gene_symbol": "ROGDI",
"hgvs_c": "c.580G>C",
"hgvs_p": "p.Val194Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290592.1",
"strand": false,
"transcript": "XM_047434636.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1394,
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