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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: 14-60471601-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=60471601&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 60471601,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_174978.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.462A>G",
"hgvs_p": "p.Ala154Ala",
"transcript": "NM_174978.3",
"protein_id": "NP_777638.3",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 587,
"cds_start": 462,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321731.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174978.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.462A>G",
"hgvs_p": "p.Ala154Ala",
"transcript": "ENST00000321731.8",
"protein_id": "ENSP00000324920.3",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 587,
"cds_start": 462,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_174978.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321731.8"
},
{
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "n.107-3068A>G",
"hgvs_p": null,
"transcript": "ENST00000557138.5",
"protein_id": "ENSP00000450476.1",
"transcript_support_level": 1,
"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": "ENST00000557138.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.462A>G",
"hgvs_p": "p.Ala154Ala",
"transcript": "ENST00000917634.1",
"protein_id": "ENSP00000587693.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 587,
"cds_start": 462,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917634.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.462A>G",
"hgvs_p": "p.Ala154Ala",
"transcript": "ENST00000917635.1",
"protein_id": "ENSP00000587694.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 587,
"cds_start": 462,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917635.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.462A>G",
"hgvs_p": "p.Ala154Ala",
"transcript": "ENST00000917632.1",
"protein_id": "ENSP00000587691.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 586,
"cds_start": 462,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917632.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.372A>G",
"hgvs_p": "p.Ala124Ala",
"transcript": "ENST00000917633.1",
"protein_id": "ENSP00000587692.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 557,
"cds_start": 372,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917633.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.570A>G",
"hgvs_p": "p.Ala190Ala",
"transcript": "XM_011536690.4",
"protein_id": "XP_011534992.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 623,
"cds_start": 570,
"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": "XM_011536690.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.570A>G",
"hgvs_p": "p.Ala190Ala",
"transcript": "XM_047431322.1",
"protein_id": "XP_047287278.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 623,
"cds_start": 570,
"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": "XM_047431322.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.570A>G",
"hgvs_p": "p.Ala190Ala",
"transcript": "XM_017021247.2",
"protein_id": "XP_016876736.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 622,
"cds_start": 570,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021247.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.462A>G",
"hgvs_p": "p.Ala154Ala",
"transcript": "XM_047431323.1",
"protein_id": "XP_047287279.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 587,
"cds_start": 462,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431323.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.462A>G",
"hgvs_p": "p.Ala154Ala",
"transcript": "XM_047431324.1",
"protein_id": "XP_047287280.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 587,
"cds_start": 462,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431324.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.462A>G",
"hgvs_p": "p.Ala154Ala",
"transcript": "XM_024449555.2",
"protein_id": "XP_024305323.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 586,
"cds_start": 462,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449555.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.375A>G",
"hgvs_p": "p.Ala125Ala",
"transcript": "XM_017021248.3",
"protein_id": "XP_016876737.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 558,
"cds_start": 375,
"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": "XM_017021248.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.372A>G",
"hgvs_p": "p.Ala124Ala",
"transcript": "XM_047431325.1",
"protein_id": "XP_047287281.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 557,
"cds_start": 372,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431325.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.372A>G",
"hgvs_p": "p.Ala124Ala",
"transcript": "XM_047431326.1",
"protein_id": "XP_047287282.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 557,
"cds_start": 372,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431326.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.372A>G",
"hgvs_p": "p.Ala124Ala",
"transcript": "XM_047431327.1",
"protein_id": "XP_047287283.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 556,
"cds_start": 372,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431327.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Ala45Ala",
"transcript": "XM_017021250.3",
"protein_id": "XP_016876739.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 478,
"cds_start": 135,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021250.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.135A>G",
"hgvs_p": "p.Ala45Ala",
"transcript": "XM_017021251.2",
"protein_id": "XP_016876740.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 478,
"cds_start": 135,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021251.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.570A>G",
"hgvs_p": "p.Ala190Ala",
"transcript": "XM_011536703.3",
"protein_id": "XP_011535005.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 429,
"cds_start": 570,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536703.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "n.697A>G",
"hgvs_p": null,
"transcript": "XR_007064008.1",
"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_007064008.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"hgvs_c": "c.*31A>G",
"hgvs_p": null,
"transcript": "ENST00000555476.5",
"protein_id": "ENSP00000451665.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555476.5"
}
],
"gene_symbol": "C14orf39",
"gene_hgnc_id": 19849,
"dbsnp": "rs35543839",
"frequency_reference_population": 0.006207053,
"hom_count_reference_population": 59,
"allele_count_reference_population": 9996,
"gnomad_exomes_af": 0.0063883,
"gnomad_genomes_af": 0.00446969,
"gnomad_exomes_ac": 9316,
"gnomad_genomes_ac": 680,
"gnomad_exomes_homalt": 52,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.49000000953674316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.467,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_174978.3",
"gene_symbol": "C14orf39",
"hgnc_id": 19849,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.462A>G",
"hgvs_p": "p.Ala154Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}