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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: 4-49003750-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=49003750&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 49003750,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_025087.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Ala273Val",
"transcript": "NM_025087.3",
"protein_id": "NP_079363.2",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 699,
"cds_start": 818,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000226432.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025087.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Ala273Val",
"transcript": "ENST00000226432.9",
"protein_id": "ENSP00000226432.4",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 699,
"cds_start": 818,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025087.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000226432.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Ala273Val",
"transcript": "ENST00000856986.1",
"protein_id": "ENSP00000527045.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 718,
"cds_start": 818,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856986.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Ala273Val",
"transcript": "ENST00000856987.1",
"protein_id": "ENSP00000527046.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 694,
"cds_start": 818,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856987.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ala246Val",
"transcript": "NM_001286791.2",
"protein_id": "NP_001273720.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 672,
"cds_start": 737,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286791.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ala246Val",
"transcript": "ENST00000513409.1",
"protein_id": "ENSP00000422802.1",
"transcript_support_level": 2,
"aa_start": 246,
"aa_end": null,
"aa_length": 672,
"cds_start": 737,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513409.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "ENST00000856992.1",
"protein_id": "ENSP00000527051.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 635,
"cds_start": 626,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856992.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.461C>T",
"hgvs_p": "p.Ala154Val",
"transcript": "ENST00000948155.1",
"protein_id": "ENSP00000618214.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 580,
"cds_start": 461,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948155.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.59C>T",
"hgvs_p": "p.Ala20Val",
"transcript": "ENST00000856993.1",
"protein_id": "ENSP00000527052.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 446,
"cds_start": 59,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856993.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Ala273Val",
"transcript": "XM_011513755.2",
"protein_id": "XP_011512057.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 718,
"cds_start": 818,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513755.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ala246Val",
"transcript": "XM_011513756.4",
"protein_id": "XP_011512058.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 691,
"cds_start": 737,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513756.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ala246Val",
"transcript": "XM_011513757.3",
"protein_id": "XP_011512059.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 691,
"cds_start": 737,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513757.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.254C>T",
"hgvs_p": "p.Ala85Val",
"transcript": "XM_011513759.1",
"protein_id": "XP_011512061.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 530,
"cds_start": 254,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513759.1"
},
{
"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": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.803-159C>T",
"hgvs_p": null,
"transcript": "ENST00000856988.1",
"protein_id": "ENSP00000527047.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 660,
"cds_start": null,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856988.1"
},
{
"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": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.803-159C>T",
"hgvs_p": null,
"transcript": "ENST00000856990.1",
"protein_id": "ENSP00000527049.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 641,
"cds_start": null,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856990.1"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.803-3451C>T",
"hgvs_p": null,
"transcript": "ENST00000856991.1",
"protein_id": "ENSP00000527050.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": null,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856991.1"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.803-3451C>T",
"hgvs_p": null,
"transcript": "ENST00000856985.1",
"protein_id": "ENSP00000527044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": null,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856985.1"
},
{
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.803-3451C>T",
"hgvs_p": null,
"transcript": "ENST00000948154.1",
"protein_id": "ENSP00000618213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 563,
"cds_start": null,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948154.1"
},
{
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.803-3451C>T",
"hgvs_p": null,
"transcript": "ENST00000856989.1",
"protein_id": "ENSP00000527048.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": null,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856989.1"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "c.803-3451C>T",
"hgvs_p": null,
"transcript": "XM_011513758.2",
"protein_id": "XP_011512060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": null,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513758.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "n.142C>T",
"hgvs_p": null,
"transcript": "ENST00000506221.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000506221.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"hgvs_c": "n.*1-3381C>T",
"hgvs_p": null,
"transcript": "ENST00000514053.6",
"protein_id": "ENSP00000425157.2",
"transcript_support_level": 5,
"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": "ENST00000514053.6"
}
],
"gene_symbol": "CWH43",
"gene_hgnc_id": 26133,
"dbsnp": "rs747730162",
"frequency_reference_population": 0.000028505989,
"hom_count_reference_population": 0,
"allele_count_reference_population": 46,
"gnomad_exomes_af": 0.000021895,
"gnomad_genomes_af": 0.0000919987,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1340925395488739,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.0709,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.206,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_025087.3",
"gene_symbol": "CWH43",
"hgnc_id": 26133,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Ala273Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}