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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: 3-183650723-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183650723&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 183650723,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001349413.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "NM_017644.3",
"protein_id": "NP_060114.2",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 600,
"cds_start": 367,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000242810.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017644.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "ENST00000242810.11",
"protein_id": "ENSP00000242810.6",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 600,
"cds_start": 367,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017644.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242810.11"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "ENST00000454652.6",
"protein_id": "ENSP00000395012.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 600,
"cds_start": 367,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454652.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "ENST00000943871.1",
"protein_id": "ENSP00000613930.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 652,
"cds_start": 367,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943871.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "NM_001349413.1",
"protein_id": "NP_001336342.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 625,
"cds_start": 367,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349413.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "NM_001349414.1",
"protein_id": "NP_001336343.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 625,
"cds_start": 367,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349414.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "NM_001349415.1",
"protein_id": "NP_001336344.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 625,
"cds_start": 367,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349415.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "NM_001349416.1",
"protein_id": "NP_001336345.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 625,
"cds_start": 367,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349416.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "NM_001349417.1",
"protein_id": "NP_001336346.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 625,
"cds_start": 367,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349417.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "NM_001349418.1",
"protein_id": "NP_001336347.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 625,
"cds_start": 367,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349418.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "ENST00000853856.1",
"protein_id": "ENSP00000523915.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 625,
"cds_start": 367,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853856.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "ENST00000853858.1",
"protein_id": "ENSP00000523917.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 625,
"cds_start": 367,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853858.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "ENST00000853866.1",
"protein_id": "ENSP00000523925.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 625,
"cds_start": 367,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853866.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "ENST00000853875.1",
"protein_id": "ENSP00000523934.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 625,
"cds_start": 367,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853875.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "ENST00000943850.1",
"protein_id": "ENSP00000613909.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 625,
"cds_start": 367,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943850.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "ENST00000943851.1",
"protein_id": "ENSP00000613910.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 625,
"cds_start": 367,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943851.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "ENST00000943856.1",
"protein_id": "ENSP00000613915.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 625,
"cds_start": 367,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943856.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "ENST00000943873.1",
"protein_id": "ENSP00000613932.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 625,
"cds_start": 367,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943873.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "ENST00000853872.1",
"protein_id": "ENSP00000523931.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 623,
"cds_start": 367,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853872.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "NM_001349419.1",
"protein_id": "NP_001336348.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 600,
"cds_start": 367,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349419.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "NM_001349420.1",
"protein_id": "NP_001336349.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 600,
"cds_start": 367,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349420.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His",
"transcript": "NM_001349421.1",
"protein_id": "NP_001336350.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 600,
"cds_start": 367,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349421.1"
},
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"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8933025002479553,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.895,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9759,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001349413.1",
"gene_symbol": "KLHL24",
"hgnc_id": 25947,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.367T>C",
"hgvs_p": "p.Tyr123His"
}
],
"clinvar_disease": " generalized, with scarring and hair loss,Epidermolysis bullosa simplex 6",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}