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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: 12-122216836-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122216836&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122216836,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_019887.6",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.349T>C",
"hgvs_p": "p.Tyr117His",
"transcript": "NM_001371333.1",
"protein_id": "NP_001358262.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 239,
"cds_start": 349,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000464942.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371333.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.349T>C",
"hgvs_p": "p.Tyr117His",
"transcript": "ENST00000464942.7",
"protein_id": "ENSP00000442360.2",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 239,
"cds_start": 349,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001371333.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464942.7"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.349T>C",
"hgvs_p": "p.Tyr117His",
"transcript": "ENST00000267169.11",
"protein_id": "ENSP00000267169.7",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 209,
"cds_start": 349,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267169.11"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.217T>C",
"hgvs_p": "p.Tyr73His",
"transcript": "ENST00000353548.11",
"protein_id": "ENSP00000320343.6",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 195,
"cds_start": 217,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353548.11"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.*179T>C",
"hgvs_p": null,
"transcript": "ENST00000342392.3",
"protein_id": "ENSP00000339963.3",
"transcript_support_level": 1,
"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": "ENST00000342392.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256861",
"gene_hgnc_id": null,
"hgvs_c": "n.*143T>C",
"hgvs_p": null,
"transcript": "ENST00000535844.1",
"protein_id": "ENSP00000454454.1",
"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": "ENST00000535844.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.*179T>C",
"hgvs_p": null,
"transcript": "ENST00000342392.3",
"protein_id": "ENSP00000339963.3",
"transcript_support_level": 1,
"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": "ENST00000342392.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256861",
"gene_hgnc_id": null,
"hgvs_c": "n.*143T>C",
"hgvs_p": null,
"transcript": "ENST00000535844.1",
"protein_id": "ENSP00000454454.1",
"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": "ENST00000535844.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.349T>C",
"hgvs_p": "p.Tyr117His",
"transcript": "ENST00000867262.1",
"protein_id": "ENSP00000537321.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 264,
"cds_start": 349,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867262.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.349T>C",
"hgvs_p": "p.Tyr117His",
"transcript": "NM_019887.6",
"protein_id": "NP_063940.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 239,
"cds_start": 349,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019887.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.349T>C",
"hgvs_p": "p.Tyr117His",
"transcript": "ENST00000867260.1",
"protein_id": "ENSP00000537319.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 237,
"cds_start": 349,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867260.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.343T>C",
"hgvs_p": "p.Tyr115His",
"transcript": "ENST00000867261.1",
"protein_id": "ENSP00000537320.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 237,
"cds_start": 343,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867261.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.259T>C",
"hgvs_p": "p.Tyr87His",
"transcript": "ENST00000920225.1",
"protein_id": "ENSP00000590284.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 209,
"cds_start": 259,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920225.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.217T>C",
"hgvs_p": "p.Tyr73His",
"transcript": "NM_001278342.1",
"protein_id": "NP_001265271.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 195,
"cds_start": 217,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278342.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.343T>C",
"hgvs_p": "p.Tyr115His",
"transcript": "ENST00000446652.5",
"protein_id": "ENSP00000390103.1",
"transcript_support_level": 3,
"aa_start": 115,
"aa_end": null,
"aa_length": 189,
"cds_start": 343,
"cds_end": null,
"cds_length": 572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446652.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.190T>C",
"hgvs_p": "p.Tyr64His",
"transcript": "NM_001278304.2",
"protein_id": "NP_001265233.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 186,
"cds_start": 190,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278304.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.190T>C",
"hgvs_p": "p.Tyr64His",
"transcript": "NM_138930.3",
"protein_id": "NP_620308.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 186,
"cds_start": 190,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138930.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.130T>C",
"hgvs_p": "p.Tyr44His",
"transcript": "NM_001278303.1",
"protein_id": "NP_001265232.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 166,
"cds_start": 130,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278303.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.58T>C",
"hgvs_p": "p.Tyr20His",
"transcript": "NM_001278302.1",
"protein_id": "NP_001265231.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 142,
"cds_start": 58,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278302.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.58T>C",
"hgvs_p": "p.Tyr20His",
"transcript": "ENST00000439489.6",
"protein_id": "ENSP00000390818.2",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 127,
"cds_start": 58,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439489.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284934",
"gene_hgnc_id": null,
"hgvs_c": "c.*764T>C",
"hgvs_p": null,
"transcript": "ENST00000645606.1",
"protein_id": "ENSP00000493911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 44,
"cds_start": null,
"cds_end": null,
"cds_length": 135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645606.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.464T>C",
"hgvs_p": null,
"transcript": "ENST00000474004.6",
"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": "ENST00000474004.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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],
"gene_symbol": "DIABLO",
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"dbsnp": "rs764412748",
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"computational_score_selected": 0.9735733270645142,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.884,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8775,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.366,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong,BS2",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 4,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_019887.6",
"gene_symbol": "DIABLO",
"hgnc_id": 21528,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.349T>C",
"hgvs_p": "p.Tyr117His"
},
{
"score": 6,
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"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000535844.1",
"gene_symbol": "ENSG00000256861",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*143T>C",
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},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000645606.1",
"gene_symbol": "ENSG00000284934",
"hgnc_id": null,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*764T>C",
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}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}