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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: 19-11437892-T-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11437892&ref=T&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11437892,
"ref": "T",
"alt": "TA",
"effect": "frameshift_variant",
"transcript": "NM_001289103.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "NM_001289104.2",
"protein_id": "NP_001276033.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 535,
"cds_start": 216,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000677123.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289104.2"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000677123.1",
"protein_id": "ENSP00000503163.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 535,
"cds_start": 216,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001289104.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677123.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000592741.5",
"protein_id": "ENSP00000466134.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 535,
"cds_start": 216,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592741.5"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000589838.5",
"protein_id": "ENSP00000465461.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 528,
"cds_start": 216,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589838.5"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.251dupA",
"hgvs_p": "p.Asn84fs",
"transcript": "ENST00000951516.1",
"protein_id": "ENSP00000621575.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 547,
"cds_start": 252,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951516.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000852995.1",
"protein_id": "ENSP00000523054.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 542,
"cds_start": 216,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852995.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000852993.1",
"protein_id": "ENSP00000523052.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 536,
"cds_start": 216,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852993.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "NM_001289103.2",
"protein_id": "NP_001276032.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 535,
"cds_start": 216,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289103.2"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000852989.1",
"protein_id": "ENSP00000523048.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 535,
"cds_start": 216,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852989.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000852990.1",
"protein_id": "ENSP00000523049.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 535,
"cds_start": 216,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852990.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000852997.1",
"protein_id": "ENSP00000523056.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 535,
"cds_start": 216,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852997.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000853001.1",
"protein_id": "ENSP00000523060.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 535,
"cds_start": 216,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853001.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000853002.1",
"protein_id": "ENSP00000523061.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 535,
"cds_start": 216,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853002.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000853003.1",
"protein_id": "ENSP00000523062.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 535,
"cds_start": 216,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853003.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000853004.1",
"protein_id": "ENSP00000523063.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 535,
"cds_start": 216,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853004.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000853008.1",
"protein_id": "ENSP00000523067.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 535,
"cds_start": 216,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853008.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000916401.1",
"protein_id": "ENSP00000586460.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 535,
"cds_start": 216,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916401.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000853007.1",
"protein_id": "ENSP00000523066.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 534,
"cds_start": 216,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853007.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "NM_001379608.1",
"protein_id": "NP_001366537.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 528,
"cds_start": 216,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379608.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "NM_002743.3",
"protein_id": "NP_002734.2",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 528,
"cds_start": 216,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002743.3"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000852999.1",
"protein_id": "ENSP00000523058.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 528,
"cds_start": 216,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852999.1"
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCSH",
"gene_hgnc_id": 9411,
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs",
"transcript": "ENST00000853009.1",
"protein_id": "ENSP00000523068.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 528,
"cds_start": 216,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853009.1"
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"frequency_reference_population": 6.84061e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84061e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.575,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001289103.2",
"gene_symbol": "PRKCSH",
"hgnc_id": 9411,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.215dupA",
"hgvs_p": "p.Asn72fs"
}
],
"clinvar_disease": "Polycystic liver disease 1",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Polycystic liver disease 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}