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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: 16-29814628-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=29814628&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 29814628,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001256442.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.1013T>C",
"hgvs_p": "p.Val338Ala",
"transcript": "NM_145239.3",
"protein_id": "NP_660282.2",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 340,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358758.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145239.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.1013T>C",
"hgvs_p": "p.Val338Ala",
"transcript": "ENST00000358758.12",
"protein_id": "ENSP00000351608.7",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 340,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145239.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358758.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000280893",
"gene_hgnc_id": null,
"hgvs_c": "n.1001+163T>C",
"hgvs_p": null,
"transcript": "ENST00000609618.2",
"protein_id": "ENSP00000476774.2",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000609618.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.1175T>C",
"hgvs_p": "p.Val392Ala",
"transcript": "NM_001256442.2",
"protein_id": "NP_001243371.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 394,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256442.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.1175T>C",
"hgvs_p": "p.Val392Ala",
"transcript": "NM_001438121.1",
"protein_id": "NP_001425050.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 394,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438121.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.1175T>C",
"hgvs_p": "p.Val392Ala",
"transcript": "ENST00000567659.3",
"protein_id": "ENSP00000456226.1",
"transcript_support_level": 2,
"aa_start": 392,
"aa_end": null,
"aa_length": 394,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567659.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.1175T>C",
"hgvs_p": "p.Val392Ala",
"transcript": "ENST00000861878.1",
"protein_id": "ENSP00000531937.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 394,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861878.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.1013T>C",
"hgvs_p": "p.Val338Ala",
"transcript": "NM_001438120.1",
"protein_id": "NP_001425049.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 340,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438120.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.1013T>C",
"hgvs_p": "p.Val338Ala",
"transcript": "ENST00000572820.2",
"protein_id": "ENSP00000458291.2",
"transcript_support_level": 5,
"aa_start": 338,
"aa_end": null,
"aa_length": 340,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572820.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.1013T>C",
"hgvs_p": "p.Val338Ala",
"transcript": "ENST00000637064.1",
"protein_id": "ENSP00000490826.1",
"transcript_support_level": 5,
"aa_start": 338,
"aa_end": null,
"aa_length": 340,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637064.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.858T>C",
"hgvs_p": "p.Arg286Arg",
"transcript": "ENST00000636619.1",
"protein_id": "ENSP00000489669.1",
"transcript_support_level": 5,
"aa_start": 286,
"aa_end": null,
"aa_length": 287,
"cds_start": 858,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636619.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.855T>C",
"hgvs_p": "p.Arg285Arg",
"transcript": "ENST00000637403.1",
"protein_id": "ENSP00000489782.1",
"transcript_support_level": 5,
"aa_start": 285,
"aa_end": null,
"aa_length": 286,
"cds_start": 855,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637403.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.462T>C",
"hgvs_p": "p.Arg154Arg",
"transcript": "ENST00000637565.1",
"protein_id": "ENSP00000490207.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 155,
"cds_start": 462,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637565.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.*674T>C",
"hgvs_p": null,
"transcript": "NM_001256443.2",
"protein_id": "NP_001243372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": null,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256443.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.*674T>C",
"hgvs_p": null,
"transcript": "NM_001438122.1",
"protein_id": "NP_001425051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": null,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438122.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.*674T>C",
"hgvs_p": null,
"transcript": "ENST00000300797.7",
"protein_id": "ENSP00000300797.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": null,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300797.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.*674T>C",
"hgvs_p": null,
"transcript": "ENST00000647876.1",
"protein_id": "ENSP00000498021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": null,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647876.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.32-34T>C",
"hgvs_p": null,
"transcript": "ENST00000636902.1",
"protein_id": "ENSP00000489935.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 32,
"cds_start": null,
"cds_end": null,
"cds_length": 100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636902.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.1010+165T>C",
"hgvs_p": null,
"transcript": "XM_017022887.3",
"protein_id": "XP_016878376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": null,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022887.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "c.1012+163T>C",
"hgvs_p": null,
"transcript": "XM_017022889.3",
"protein_id": "XP_016878378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": null,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022889.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "n.*189T>C",
"hgvs_p": null,
"transcript": "ENST00000636131.1",
"protein_id": "ENSP00000490390.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000636131.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRRT2",
"gene_hgnc_id": 30500,
"hgvs_c": "n.*328T>C",
"hgvs_p": null,
"transcript": "ENST00000637290.1",
"protein_id": "ENSP00000490278.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
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],
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10130169987678528,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.161,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.307,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6",
"acmg_by_gene": [
{
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"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_001256442.2",
"gene_symbol": "PRRT2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1175T>C",
"hgvs_p": "p.Val392Ala"
},
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000609618.2",
"gene_symbol": "ENSG00000280893",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1001+163T>C",
"hgvs_p": null
},
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000569039.5",
"gene_symbol": "MVP-DT",
"hgnc_id": 56029,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.246-4455A>G",
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}
],
"clinvar_disease": "Episodic kinesigenic dyskinesia,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:3",
"phenotype_combined": "not specified|Episodic kinesigenic dyskinesia|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}