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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: 14-58474776-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=58474776&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 58474776,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001244189.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2804T>C",
"hgvs_p": "p.Leu935Pro",
"transcript": "NM_001329943.3",
"protein_id": "NP_001316872.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1548,
"cds_start": 2804,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000652326.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329943.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2804T>C",
"hgvs_p": "p.Leu935Pro",
"transcript": "ENST00000652326.2",
"protein_id": "ENSP00000498929.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1548,
"cds_start": 2804,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001329943.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652326.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2759T>C",
"hgvs_p": "p.Leu920Pro",
"transcript": "ENST00000619416.4",
"protein_id": "ENSP00000478083.1",
"transcript_support_level": 1,
"aa_start": 920,
"aa_end": null,
"aa_length": 1533,
"cds_start": 2759,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619416.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2672T>C",
"hgvs_p": "p.Leu891Pro",
"transcript": "ENST00000423743.7",
"protein_id": "ENSP00000399427.3",
"transcript_support_level": 1,
"aa_start": 891,
"aa_end": null,
"aa_length": 1504,
"cds_start": 2672,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423743.7"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2576T>C",
"hgvs_p": "p.Leu859Pro",
"transcript": "ENST00000261244.9",
"protein_id": "ENSP00000261244.5",
"transcript_support_level": 1,
"aa_start": 859,
"aa_end": null,
"aa_length": 1472,
"cds_start": 2576,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261244.9"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2963T>C",
"hgvs_p": "p.Leu988Pro",
"transcript": "NM_001244189.2",
"protein_id": "NP_001231118.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1644,
"cds_start": 2963,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244189.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2963T>C",
"hgvs_p": "p.Leu988Pro",
"transcript": "ENST00000354386.10",
"protein_id": "ENSP00000346359.6",
"transcript_support_level": 2,
"aa_start": 988,
"aa_end": null,
"aa_length": 1644,
"cds_start": 2963,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354386.10"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2804T>C",
"hgvs_p": "p.Leu935Pro",
"transcript": "NM_001329944.2",
"protein_id": "NP_001316873.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1591,
"cds_start": 2804,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329944.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2759T>C",
"hgvs_p": "p.Leu920Pro",
"transcript": "NM_001244190.2",
"protein_id": "NP_001231119.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1533,
"cds_start": 2759,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244190.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2804T>C",
"hgvs_p": "p.Leu935Pro",
"transcript": "NM_001329946.2",
"protein_id": "NP_001316875.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1526,
"cds_start": 2804,
"cds_end": null,
"cds_length": 4581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329946.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2723T>C",
"hgvs_p": "p.Leu908Pro",
"transcript": "ENST00000650904.1",
"protein_id": "ENSP00000498606.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 1521,
"cds_start": 2723,
"cds_end": null,
"cds_length": 4566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650904.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2672T>C",
"hgvs_p": "p.Leu891Pro",
"transcript": "NM_001244192.2",
"protein_id": "NP_001231121.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1504,
"cds_start": 2672,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244192.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2804T>C",
"hgvs_p": "p.Leu935Pro",
"transcript": "NM_001329947.2",
"protein_id": "NP_001316876.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1504,
"cds_start": 2804,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329947.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2576T>C",
"hgvs_p": "p.Leu859Pro",
"transcript": "NM_014749.5",
"protein_id": "NP_055564.3",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1472,
"cds_start": 2576,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014749.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2549T>C",
"hgvs_p": "p.Leu850Pro",
"transcript": "NM_001244191.2",
"protein_id": "NP_001231120.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1463,
"cds_start": 2549,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244191.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2549T>C",
"hgvs_p": "p.Leu850Pro",
"transcript": "NM_001364701.2",
"protein_id": "NP_001351630.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1463,
"cds_start": 2549,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364701.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2549T>C",
"hgvs_p": "p.Leu850Pro",
"transcript": "ENST00000619722.5",
"protein_id": "ENSP00000481936.1",
"transcript_support_level": 2,
"aa_start": 850,
"aa_end": null,
"aa_length": 1463,
"cds_start": 2549,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619722.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2549T>C",
"hgvs_p": "p.Leu850Pro",
"transcript": "NM_001329945.2",
"protein_id": "NP_001316874.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1441,
"cds_start": 2549,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329945.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2549T>C",
"hgvs_p": "p.Leu850Pro",
"transcript": "NM_001364700.1",
"protein_id": "NP_001351629.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 1401,
"cds_start": 2549,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364700.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2384T>C",
"hgvs_p": "p.Leu795Pro",
"transcript": "NM_001244193.2",
"protein_id": "NP_001231122.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1347,
"cds_start": 2384,
"cds_end": null,
"cds_length": 4044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244193.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.908T>C",
"hgvs_p": "p.Leu303Pro",
"transcript": "ENST00000652414.1",
"protein_id": "ENSP00000498397.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 854,
"cds_start": 908,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652414.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.323T>C",
"hgvs_p": "p.Leu108Pro",
"transcript": "ENST00000651852.1",
"protein_id": "ENSP00000498990.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 764,
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8275277018547058,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.453,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6578,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.256,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
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"pathogenic_score": 3,
"criteria": [
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001244189.2",
"gene_symbol": "KIAA0586",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Leu988Pro"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}