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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: 4-56523818-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=56523818&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 56523818,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001363794.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL9",
"gene_hgnc_id": 23592,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Pro247Arg",
"transcript": "NM_001363794.2",
"protein_id": "NP_001350723.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 265,
"cds_start": 740,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000640821.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363794.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL9",
"gene_hgnc_id": 23592,
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Pro247Arg",
"transcript": "ENST00000640821.3",
"protein_id": "ENSP00000492671.3",
"transcript_support_level": 5,
"aa_start": 247,
"aa_end": null,
"aa_length": 265,
"cds_start": 740,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001363794.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640821.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL9",
"gene_hgnc_id": 23592,
"hgvs_c": "c.314C>G",
"hgvs_p": "p.Pro105Arg",
"transcript": "ENST00000360096.3",
"protein_id": "ENSP00000353210.2",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 123,
"cds_start": 314,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360096.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL9",
"gene_hgnc_id": 23592,
"hgvs_c": "c.656C>G",
"hgvs_p": "p.Pro219Arg",
"transcript": "ENST00000915214.1",
"protein_id": "ENSP00000585273.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 237,
"cds_start": 656,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915214.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL9",
"gene_hgnc_id": 23592,
"hgvs_c": "c.401C>G",
"hgvs_p": "p.Pro134Arg",
"transcript": "NM_001401361.1",
"protein_id": "NP_001388290.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 152,
"cds_start": 401,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401361.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL9",
"gene_hgnc_id": 23592,
"hgvs_c": "c.401C>G",
"hgvs_p": "p.Pro134Arg",
"transcript": "ENST00000948253.1",
"protein_id": "ENSP00000618312.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 152,
"cds_start": 401,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948253.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL9",
"gene_hgnc_id": 23592,
"hgvs_c": "c.314C>G",
"hgvs_p": "p.Pro105Arg",
"transcript": "NM_001401357.1",
"protein_id": "NP_001388286.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 123,
"cds_start": 314,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401357.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL9",
"gene_hgnc_id": 23592,
"hgvs_c": "c.314C>G",
"hgvs_p": "p.Pro105Arg",
"transcript": "NM_206919.3",
"protein_id": "NP_996802.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 123,
"cds_start": 314,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206919.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL9",
"gene_hgnc_id": 23592,
"hgvs_c": "c.263C>G",
"hgvs_p": "p.Pro88Arg",
"transcript": "NM_001401358.1",
"protein_id": "NP_001388287.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 106,
"cds_start": 263,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401358.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL9",
"gene_hgnc_id": 23592,
"hgvs_c": "c.233C>G",
"hgvs_p": "p.Pro78Arg",
"transcript": "NM_001401359.1",
"protein_id": "NP_001388288.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 96,
"cds_start": 233,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401359.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL9",
"gene_hgnc_id": 23592,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Pro57Arg",
"transcript": "NM_001401360.1",
"protein_id": "NP_001388289.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 75,
"cds_start": 170,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401360.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL9",
"gene_hgnc_id": 23592,
"hgvs_c": "c.314C>G",
"hgvs_p": "p.Pro105Arg",
"transcript": "XM_005265720.5",
"protein_id": "XP_005265777.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 123,
"cds_start": 314,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265720.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL9",
"gene_hgnc_id": 23592,
"hgvs_c": "c.170C>G",
"hgvs_p": "p.Pro57Arg",
"transcript": "XM_047449613.1",
"protein_id": "XP_047305569.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 75,
"cds_start": 170,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449613.1"
},
{
"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": "ARL9",
"gene_hgnc_id": 23592,
"hgvs_c": "n.*235C>G",
"hgvs_p": null,
"transcript": "ENST00000645327.1",
"protein_id": "ENSP00000496178.1",
"transcript_support_level": null,
"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": "ENST00000645327.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289393",
"gene_hgnc_id": 58796,
"hgvs_c": "n.431G>C",
"hgvs_p": null,
"transcript": "ENST00000737353.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000737353.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL9",
"gene_hgnc_id": 23592,
"hgvs_c": "n.*235C>G",
"hgvs_p": null,
"transcript": "ENST00000645327.1",
"protein_id": "ENSP00000496178.1",
"transcript_support_level": null,
"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": "ENST00000645327.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289393",
"gene_hgnc_id": 58796,
"hgvs_c": "n.132+6532G>C",
"hgvs_p": null,
"transcript": "ENST00000737350.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000737350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289393",
"gene_hgnc_id": 58796,
"hgvs_c": "n.180-433G>C",
"hgvs_p": null,
"transcript": "ENST00000737351.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000737351.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289393",
"gene_hgnc_id": 58796,
"hgvs_c": "n.224-433G>C",
"hgvs_p": null,
"transcript": "ENST00000737352.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000737352.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC105377665",
"gene_hgnc_id": null,
"hgvs_c": "n.273-433G>C",
"hgvs_p": null,
"transcript": "XR_941077.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_941077.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105377665",
"gene_hgnc_id": null,
"hgvs_c": "n.*155G>C",
"hgvs_p": null,
"transcript": "XR_001741700.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_001741700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105377665",
"gene_hgnc_id": null,
"hgvs_c": "n.*155G>C",
"hgvs_p": null,
"transcript": "XR_941076.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_941076.1"
}
],
"gene_symbol": "ARL9",
"gene_hgnc_id": 23592,
"dbsnp": null,
"frequency_reference_population": 0.00000205243,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205243,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2584609389305115,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.138,
"revel_prediction": "Benign",
"alphamissense_score": 0.203,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.528,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001363794.2",
"gene_symbol": "ARL9",
"hgnc_id": 23592,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.740C>G",
"hgvs_p": "p.Pro247Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000737353.1",
"gene_symbol": "ENSG00000289393",
"hgnc_id": 58796,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.431G>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_941077.1",
"gene_symbol": "LOC105377665",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.273-433G>C",
"hgvs_p": null
}
],
"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
}