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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: 19-49010016-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49010016&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RUVBL2",
"hgnc_id": 10475,
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Leu205Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_006666.3",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP4_Moderate",
"BA1"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "MIR6798",
"hgnc_id": 50013,
"hgvs_c": "n.*44C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "NR_106856.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_score": -11,
"allele_count_reference_population": 752813,
"alphamissense_prediction": null,
"alphamissense_score": 0.1029,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 463,
"aa_ref": "L",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 638,
"cds_end": null,
"cds_length": 1392,
"cds_start": 613,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_006666.3",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Leu205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000595090.6",
"protein_coding": true,
"protein_id": "NP_006657.1",
"strand": true,
"transcript": "NM_006666.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 463,
"aa_ref": "L",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1545,
"cdna_start": 638,
"cds_end": null,
"cds_length": 1392,
"cds_start": 613,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000595090.6",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Leu205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006666.3",
"protein_coding": true,
"protein_id": "ENSP00000473172.1",
"strand": true,
"transcript": "ENST00000595090.6",
"transcript_support_level": 1
},
{
"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": 1478,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000221413.10",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "n.602C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000221413.6",
"strand": true,
"transcript": "ENST00000221413.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 470,
"aa_ref": "L",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1509,
"cdna_start": 647,
"cds_end": null,
"cds_length": 1413,
"cds_start": 634,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888169.1",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.634C>T",
"hgvs_p": "p.Leu212Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558228.1",
"strand": true,
"transcript": "ENST00000888169.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 462,
"aa_ref": "L",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1554,
"cdna_start": 635,
"cds_end": null,
"cds_length": 1389,
"cds_start": 610,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888165.1",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Leu204Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558224.1",
"strand": true,
"transcript": "ENST00000888165.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 462,
"aa_ref": "L",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1507,
"cdna_start": 647,
"cds_end": null,
"cds_length": 1389,
"cds_start": 613,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888166.1",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Leu205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558225.1",
"strand": true,
"transcript": "ENST00000888166.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 461,
"aa_ref": "L",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1551,
"cdna_start": 650,
"cds_end": null,
"cds_length": 1386,
"cds_start": 613,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940726.1",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Leu205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610785.1",
"strand": true,
"transcript": "ENST00000940726.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 460,
"aa_ref": "L",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1495,
"cdna_start": 632,
"cds_end": null,
"cds_length": 1383,
"cds_start": 604,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940727.1",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.604C>T",
"hgvs_p": "p.Leu202Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610786.1",
"strand": true,
"transcript": "ENST00000940727.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 458,
"aa_ref": "L",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1470,
"cdna_start": 623,
"cds_end": null,
"cds_length": 1377,
"cds_start": 613,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888170.1",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Leu205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558229.1",
"strand": true,
"transcript": "ENST00000888170.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 448,
"aa_ref": "L",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1453,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1347,
"cds_start": 613,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888168.1",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Leu205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558227.1",
"strand": true,
"transcript": "ENST00000888168.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 429,
"aa_ref": "L",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1290,
"cds_start": 511,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001321190.2",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Leu171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308119.1",
"strand": true,
"transcript": "NM_001321190.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 418,
"aa_ref": "L",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1988,
"cdna_start": 1056,
"cds_end": null,
"cds_length": 1257,
"cds_start": 478,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001321191.1",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Leu160Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308120.1",
"strand": true,
"transcript": "NM_001321191.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 405,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1330,
"cdna_start": 467,
"cds_end": null,
"cds_length": 1218,
"cds_start": 439,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000888167.1",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.439C>T",
"hgvs_p": "p.Leu147Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558226.1",
"strand": true,
"transcript": "ENST00000888167.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 354,
"aa_ref": "L",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1641,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1065,
"cds_start": 478,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000601968.5",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Leu160Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471524.1",
"strand": true,
"transcript": "ENST00000601968.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 354,
"aa_ref": "L",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1065,
"cdna_start": 478,
"cds_end": null,
"cds_length": 1065,
"cds_start": 478,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000627972.1",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Leu160Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486242.1",
"strand": true,
"transcript": "ENST00000627972.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 350,
"aa_ref": "L",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1148,
"cdna_start": 281,
"cds_end": null,
"cds_length": 1053,
"cds_start": 274,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000940729.1",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.274C>T",
"hgvs_p": "p.Leu92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610788.1",
"strand": true,
"transcript": "ENST00000940729.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 278,
"aa_ref": "L",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 937,
"cdna_start": 632,
"cds_end": null,
"cds_length": 837,
"cds_start": 613,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940728.1",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.613C>T",
"hgvs_p": "p.Leu205Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610787.1",
"strand": true,
"transcript": "ENST00000940728.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 221,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 835,
"cdna_start": null,
"cds_end": null,
"cds_length": 666,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940725.1",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "c.395+2869C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610784.1",
"strand": true,
"transcript": "ENST00000940725.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 959,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000594017.5",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "n.635C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000594017.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000594338.1",
"gene_hgnc_id": 10475,
"gene_symbol": "RUVBL2",
"hgvs_c": "n.601C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000594338.1",
"transcript_support_level": 5
},
{
"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": 1563,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
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