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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: 2-178456149-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178456149&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"BP6_Moderate",
"BP7"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "PJVK",
"hgnc_id": 29502,
"hgvs_c": "c.556C>A",
"hgvs_p": "p.Arg186Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -3,
"transcript": "NM_001353775.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 32,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "2",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.3700000047683716,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 352,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1059,
"cds_start": 547,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001042702.5",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.547C>A",
"hgvs_p": "p.Arg183Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644580.2",
"protein_coding": true,
"protein_id": "NP_001036167.1",
"strand": true,
"transcript": "NM_001042702.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 352,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1059,
"cds_start": 547,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000644580.2",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.547C>A",
"hgvs_p": "p.Arg183Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001042702.5",
"protein_coding": true,
"protein_id": "ENSP00000495855.2",
"strand": true,
"transcript": "ENST00000644580.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 352,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1202,
"cdna_start": 690,
"cds_end": null,
"cds_length": 1059,
"cds_start": 547,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000375129.8",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.547C>A",
"hgvs_p": "p.Arg183Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364271.4",
"strand": true,
"transcript": "ENST00000375129.8",
"transcript_support_level": 1
},
{
"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": 1942,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000437056.5",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "n.1417C>A",
"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": "ENST00000437056.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 355,
"aa_ref": "R",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2134,
"cdna_start": 794,
"cds_end": null,
"cds_length": 1068,
"cds_start": 556,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001353775.2",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.556C>A",
"hgvs_p": "p.Arg186Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340704.1",
"strand": true,
"transcript": "NM_001353775.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1065,
"cds_start": 652,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001353776.2",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.652C>A",
"hgvs_p": "p.Arg218Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340705.1",
"strand": true,
"transcript": "NM_001353776.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 352,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 718,
"cds_end": null,
"cds_length": 1059,
"cds_start": 547,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001369912.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.547C>A",
"hgvs_p": "p.Arg183Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356841.1",
"strand": true,
"transcript": "NM_001369912.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 352,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1602,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 1059,
"cds_start": 547,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000970493.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.547C>A",
"hgvs_p": "p.Arg183Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640552.1",
"strand": true,
"transcript": "ENST00000970493.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 352,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1059,
"cds_start": 547,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000970494.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.547C>A",
"hgvs_p": "p.Arg183Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640553.1",
"strand": true,
"transcript": "ENST00000970494.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 299,
"aa_ref": "R",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1906,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 901,
"cds_start": 547,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000645572.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.547C>A",
"hgvs_p": "p.Arg183Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494301.1",
"strand": true,
"transcript": "ENST00000645572.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "R",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1542,
"cdna_start": 738,
"cds_end": null,
"cds_length": 582,
"cds_start": 70,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001353777.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.70C>A",
"hgvs_p": "p.Arg24Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340706.1",
"strand": true,
"transcript": "NM_001353777.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "R",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 920,
"cds_end": null,
"cds_length": 582,
"cds_start": 70,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001353778.2",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.70C>A",
"hgvs_p": "p.Arg24Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340707.1",
"strand": true,
"transcript": "NM_001353778.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "R",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1186,
"cdna_start": 539,
"cds_end": null,
"cds_length": 582,
"cds_start": 70,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000642192.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.70C>A",
"hgvs_p": "p.Arg24Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494225.1",
"strand": true,
"transcript": "ENST00000642192.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "R",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1581,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 582,
"cds_start": 70,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000642492.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.70C>A",
"hgvs_p": "p.Arg24Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496267.1",
"strand": true,
"transcript": "ENST00000642492.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "R",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1268,
"cdna_start": 743,
"cds_end": null,
"cds_length": 582,
"cds_start": 70,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000645817.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.70C>A",
"hgvs_p": "p.Arg24Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495731.1",
"strand": true,
"transcript": "ENST00000645817.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 193,
"aa_ref": "R",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1289,
"cdna_start": 657,
"cds_end": null,
"cds_length": 582,
"cds_start": 70,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000647226.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.70C>A",
"hgvs_p": "p.Arg24Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496024.1",
"strand": true,
"transcript": "ENST00000647226.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 155,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 713,
"cdna_start": 389,
"cds_end": null,
"cds_length": 468,
"cds_start": 388,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000442710.5",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.388C>A",
"hgvs_p": "p.Arg130Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410776.1",
"strand": true,
"transcript": "ENST00000442710.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 28,
"aa_ref": "R",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 869,
"cdna_start": 850,
"cds_end": null,
"cds_length": 89,
"cds_start": 70,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000643738.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.70C>A",
"hgvs_p": "p.Arg24Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493684.1",
"strand": true,
"transcript": "ENST00000643738.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 387,
"aa_ref": "R",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1164,
"cds_start": 652,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017004221.3",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "c.652C>A",
"hgvs_p": "p.Arg218Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859710.1",
"strand": true,
"transcript": "XM_017004221.3",
"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": 471,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000444615.1",
"gene_hgnc_id": 29502,
"gene_symbol": "PJVK",
"hgvs_c": "n.187C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000399579.1",
"strand": true,
"transcript": "ENST00000444615.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 511,
"cdna_start": null,
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{
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{
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{
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]
}