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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: 4-127892446-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=127892446&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 127892446,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001441357.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2120C>T",
"hgvs_p": "p.Thr707Ile",
"transcript": "NM_014264.5",
"protein_id": "NP_055079.3",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 970,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000270861.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014264.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2120C>T",
"hgvs_p": "p.Thr707Ile",
"transcript": "ENST00000270861.10",
"protein_id": "ENSP00000270861.5",
"transcript_support_level": 1,
"aa_start": 707,
"aa_end": null,
"aa_length": 970,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014264.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270861.10"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2123C>T",
"hgvs_p": "p.Thr708Ile",
"transcript": "NM_001441357.1",
"protein_id": "NP_001428286.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 971,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441357.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2024C>T",
"hgvs_p": "p.Thr675Ile",
"transcript": "NM_001190799.2",
"protein_id": "NP_001177728.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 938,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190799.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2024C>T",
"hgvs_p": "p.Thr675Ile",
"transcript": "ENST00000513090.5",
"protein_id": "ENSP00000427554.1",
"transcript_support_level": 2,
"aa_start": 675,
"aa_end": null,
"aa_length": 938,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513090.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2021C>T",
"hgvs_p": "p.Thr674Ile",
"transcript": "NM_001441358.1",
"protein_id": "NP_001428287.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 937,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441358.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2018C>T",
"hgvs_p": "p.Thr673Ile",
"transcript": "NM_001441359.1",
"protein_id": "NP_001428288.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 936,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441359.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.2018C>T",
"hgvs_p": "p.Thr673Ile",
"transcript": "ENST00000852980.1",
"protein_id": "ENSP00000523039.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 936,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852980.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1997C>T",
"hgvs_p": "p.Thr666Ile",
"transcript": "NM_001190801.2",
"protein_id": "NP_001177730.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 929,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190801.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1997C>T",
"hgvs_p": "p.Thr666Ile",
"transcript": "ENST00000514379.5",
"protein_id": "ENSP00000423582.1",
"transcript_support_level": 2,
"aa_start": 666,
"aa_end": null,
"aa_length": 929,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514379.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1979C>T",
"hgvs_p": "p.Thr660Ile",
"transcript": "NM_001441360.1",
"protein_id": "NP_001428289.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 923,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441360.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1937C>T",
"hgvs_p": "p.Thr646Ile",
"transcript": "ENST00000507249.5",
"protein_id": "ENSP00000423412.1",
"transcript_support_level": 5,
"aa_start": 646,
"aa_end": null,
"aa_length": 909,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507249.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1922C>T",
"hgvs_p": "p.Thr641Ile",
"transcript": "NM_001441361.1",
"protein_id": "NP_001428290.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 904,
"cds_start": 1922,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441361.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1895C>T",
"hgvs_p": "p.Thr632Ile",
"transcript": "NM_001441366.1",
"protein_id": "NP_001428295.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 895,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441366.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1886C>T",
"hgvs_p": "p.Thr629Ile",
"transcript": "ENST00000515069.5",
"protein_id": "ENSP00000421774.1",
"transcript_support_level": 5,
"aa_start": 629,
"aa_end": null,
"aa_length": 892,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515069.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1877C>T",
"hgvs_p": "p.Thr626Ile",
"transcript": "NM_001441367.1",
"protein_id": "NP_001428296.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 889,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441367.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1850C>T",
"hgvs_p": "p.Thr617Ile",
"transcript": "NM_001441368.1",
"protein_id": "NP_001428297.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 880,
"cds_start": 1850,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441368.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Thr500Ile",
"transcript": "NM_001441371.1",
"protein_id": "NP_001428300.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 763,
"cds_start": 1499,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441371.1"
},
{
"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": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1969+48C>T",
"hgvs_p": null,
"transcript": "NM_001441362.1",
"protein_id": "NP_001428291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 897,
"cds_start": null,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441362.1"
},
{
"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": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.1867+48C>T",
"hgvs_p": null,
"transcript": "NM_001441369.1",
"protein_id": "NP_001428298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 863,
"cds_start": null,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441369.1"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "c.60+48C>T",
"hgvs_p": null,
"transcript": "ENST00000508113.1",
"protein_id": "ENSP00000427568.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": null,
"cds_end": null,
"cds_length": 596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508113.1"
},
{
"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": "PLK4",
"gene_hgnc_id": 11397,
"hgvs_c": "n.385C>T",
"hgvs_p": null,
"transcript": "ENST00000507454.1",
"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": "ENST00000507454.1"
}
],
"gene_symbol": "PLK4",
"gene_hgnc_id": 11397,
"dbsnp": "rs1445635869",
"frequency_reference_population": 0.0000037726643,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000347583,
"gnomad_genomes_af": 0.00000658397,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6038365364074707,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20999999344348907,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.382,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9693,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.833,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.21,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP6_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001441357.1",
"gene_symbol": "PLK4",
"hgnc_id": 11397,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2123C>T",
"hgvs_p": "p.Thr708Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}