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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: 11-117820675-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=117820675&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 117820675,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001204268.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Pro66Pro",
"transcript": "NM_001680.5",
"protein_id": "NP_001671.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 66,
"cds_start": 198,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292079.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001680.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Pro66Pro",
"transcript": "ENST00000292079.7",
"protein_id": "ENSP00000292079.2",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 66,
"cds_start": 198,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001680.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292079.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD6-FXYD2",
"gene_hgnc_id": 39978,
"hgvs_c": "c.432G>C",
"hgvs_p": "p.Pro144Pro",
"transcript": "ENST00000614497.5",
"protein_id": "ENSP00000482442.1",
"transcript_support_level": 3,
"aa_start": 144,
"aa_end": null,
"aa_length": 144,
"cds_start": 432,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614497.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Pro64Pro",
"transcript": "ENST00000260287.2",
"protein_id": "ENSP00000260287.2",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 64,
"cds_start": 192,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260287.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD6-FXYD2",
"gene_hgnc_id": 39978,
"hgvs_c": "c.432G>C",
"hgvs_p": "p.Pro144Pro",
"transcript": "NM_001204268.3",
"protein_id": "NP_001191197.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 144,
"cds_start": 432,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204268.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "c.258G>C",
"hgvs_p": "p.Pro86Pro",
"transcript": "ENST00000910776.1",
"protein_id": "ENSP00000580835.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 86,
"cds_start": 258,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910776.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "c.210G>C",
"hgvs_p": "p.Pro70Pro",
"transcript": "ENST00000910775.1",
"protein_id": "ENSP00000580834.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 70,
"cds_start": 210,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910775.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Pro66Pro",
"transcript": "ENST00000910769.1",
"protein_id": "ENSP00000580828.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 66,
"cds_start": 198,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910769.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Pro66Pro",
"transcript": "ENST00000910771.1",
"protein_id": "ENSP00000580830.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 66,
"cds_start": 198,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910771.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Pro66Pro",
"transcript": "ENST00000960084.1",
"protein_id": "ENSP00000630143.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 66,
"cds_start": 198,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960084.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Pro64Pro",
"transcript": "NM_021603.4",
"protein_id": "NP_067614.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 64,
"cds_start": 192,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021603.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Pro64Pro",
"transcript": "ENST00000528014.5",
"protein_id": "ENSP00000432430.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 64,
"cds_start": 192,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528014.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "c.192G>C",
"hgvs_p": "p.Pro64Pro",
"transcript": "ENST00000532119.5",
"protein_id": "ENSP00000436414.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 64,
"cds_start": 192,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532119.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "c.183G>C",
"hgvs_p": "p.Pro61Pro",
"transcript": "ENST00000910774.1",
"protein_id": "ENSP00000580833.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 61,
"cds_start": 183,
"cds_end": null,
"cds_length": 186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910774.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Pro41Pro",
"transcript": "ENST00000910770.1",
"protein_id": "ENSP00000580829.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 41,
"cds_start": 123,
"cds_end": null,
"cds_length": 126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910770.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Pro41Pro",
"transcript": "ENST00000910772.1",
"protein_id": "ENSP00000580831.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 41,
"cds_start": 123,
"cds_end": null,
"cds_length": 126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910772.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "c.123G>C",
"hgvs_p": "p.Pro41Pro",
"transcript": "ENST00000910773.1",
"protein_id": "ENSP00000580832.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 41,
"cds_start": 123,
"cds_end": null,
"cds_length": 126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910773.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD6-FXYD2",
"gene_hgnc_id": 39978,
"hgvs_c": "c.*31G>C",
"hgvs_p": null,
"transcript": "NM_001243598.4",
"protein_id": "NP_001230527.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": null,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243598.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD6-FXYD2",
"gene_hgnc_id": 39978,
"hgvs_c": "c.*31G>C",
"hgvs_p": null,
"transcript": "ENST00000532984.1",
"protein_id": "ENSP00000463024.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": null,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532984.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254844",
"gene_hgnc_id": null,
"hgvs_c": "n.491C>G",
"hgvs_p": null,
"transcript": "ENST00000531850.2",
"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": "pseudogene",
"feature": "ENST00000531850.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "n.260G>C",
"hgvs_p": null,
"transcript": "ENST00000533281.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000533281.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD2",
"gene_hgnc_id": 4026,
"hgvs_c": "n.756G>C",
"hgvs_p": null,
"transcript": "ENST00000534383.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000534383.5"
}
],
"gene_symbol": "FXYD6-FXYD2",
"gene_hgnc_id": 39978,
"dbsnp": "rs149353193",
"frequency_reference_population": 0.0000020523598,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205236,
"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": -0.6399999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.159,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001204268.3",
"gene_symbol": "FXYD6-FXYD2",
"hgnc_id": 39978,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.432G>C",
"hgvs_p": "p.Pro144Pro"
},
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001680.5",
"gene_symbol": "FXYD2",
"hgnc_id": 4026,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.198G>C",
"hgvs_p": "p.Pro66Pro"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000531850.2",
"gene_symbol": "ENSG00000254844",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.491C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}