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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: 2-178432185-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178432185&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178432185,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003690.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.854A>G",
"hgvs_p": "p.His285Arg",
"transcript": "NM_003690.5",
"protein_id": "NP_003681.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 313,
"cds_start": 854,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325748.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003690.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.854A>G",
"hgvs_p": "p.His285Arg",
"transcript": "ENST00000325748.9",
"protein_id": "ENSP00000318176.4",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 313,
"cds_start": 854,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003690.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325748.9"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.821A>G",
"hgvs_p": "p.His274Arg",
"transcript": "ENST00000432031.6",
"protein_id": "ENSP00000393883.2",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 302,
"cds_start": 821,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432031.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.779A>G",
"hgvs_p": "p.His260Arg",
"transcript": "ENST00000487082.5",
"protein_id": "ENSP00000430604.1",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 288,
"cds_start": 779,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487082.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.821A>G",
"hgvs_p": "p.His274Arg",
"transcript": "NM_001139517.1",
"protein_id": "NP_001132989.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 302,
"cds_start": 821,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001139517.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.803A>G",
"hgvs_p": "p.His268Arg",
"transcript": "ENST00000914393.1",
"protein_id": "ENSP00000584452.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 296,
"cds_start": 803,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914393.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.779A>G",
"hgvs_p": "p.His260Arg",
"transcript": "NM_001139518.1",
"protein_id": "NP_001132990.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 288,
"cds_start": 779,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001139518.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.602A>G",
"hgvs_p": "p.His201Arg",
"transcript": "ENST00000677981.1",
"protein_id": "ENSP00000503536.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 229,
"cds_start": 602,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677981.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.His200Arg",
"transcript": "ENST00000677689.1",
"protein_id": "ENSP00000502919.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 228,
"cds_start": 599,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677689.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.His195Arg",
"transcript": "ENST00000967043.1",
"protein_id": "ENSP00000637102.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 223,
"cds_start": 584,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967043.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.569A>G",
"hgvs_p": "p.His190Arg",
"transcript": "ENST00000914392.1",
"protein_id": "ENSP00000584451.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 218,
"cds_start": 569,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914392.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.His172Arg",
"transcript": "NM_001316362.2",
"protein_id": "NP_001303291.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 200,
"cds_start": 515,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316362.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.His172Arg",
"transcript": "ENST00000678775.1",
"protein_id": "ENSP00000504030.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 200,
"cds_start": 515,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678775.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.His172Arg",
"transcript": "ENST00000678845.1",
"protein_id": "ENSP00000503011.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 200,
"cds_start": 515,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678845.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.His200Arg",
"transcript": "XM_011512063.3",
"protein_id": "XP_011510365.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 228,
"cds_start": 599,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512063.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHROMR",
"gene_hgnc_id": 54059,
"hgvs_c": "n.663T>C",
"hgvs_p": null,
"transcript": "ENST00000415236.2",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000415236.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.*646A>G",
"hgvs_p": null,
"transcript": "ENST00000424699.5",
"protein_id": "ENSP00000408029.1",
"transcript_support_level": 2,
"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": "ENST00000424699.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.*582A>G",
"hgvs_p": null,
"transcript": "ENST00000448279.2",
"protein_id": "ENSP00000388455.1",
"transcript_support_level": 4,
"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": "ENST00000448279.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.*358A>G",
"hgvs_p": null,
"transcript": "ENST00000457633.2",
"protein_id": "ENSP00000408668.2",
"transcript_support_level": 3,
"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": "ENST00000457633.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.995A>G",
"hgvs_p": null,
"transcript": "ENST00000474793.6",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000474793.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.1081A>G",
"hgvs_p": null,
"transcript": "ENST00000490501.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000490501.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHROMR",
"gene_hgnc_id": 54059,
"hgvs_c": "n.1503T>C",
"hgvs_p": null,
"transcript": "ENST00000660374.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000660374.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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],
"gene_symbol": "PRKRA",
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.6498007774353027,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.876,
"revel_prediction": "Pathogenic",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.977,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_003690.5",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.His285Arg"
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{
"score": 2,
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"verdict": "Uncertain_significance",
"transcript": "ENST00000415236.2",
"gene_symbol": "CHROMR",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.663T>C",
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}
],
"clinvar_disease": "Dystonia 16",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Dystonia 16",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}