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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: 1-204117650-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=204117650&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 204117650,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005686.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Pro240Ser",
"transcript": "NM_005686.3",
"protein_id": "NP_005677.2",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 622,
"cds_start": 718,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367204.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005686.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Pro240Ser",
"transcript": "ENST00000367204.6",
"protein_id": "ENSP00000356172.1",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 622,
"cds_start": 718,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005686.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367204.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Pro240Ser",
"transcript": "ENST00000618875.4",
"protein_id": "ENSP00000478239.1",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 622,
"cds_start": 718,
"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": "ENST00000618875.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "n.1316C>T",
"hgvs_p": null,
"transcript": "ENST00000367203.8",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000367203.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.751C>T",
"hgvs_p": "p.Pro251Ser",
"transcript": "ENST00000889805.1",
"protein_id": "ENSP00000559864.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 633,
"cds_start": 751,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889805.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.730C>T",
"hgvs_p": "p.Pro244Ser",
"transcript": "ENST00000939010.1",
"protein_id": "ENSP00000609069.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 626,
"cds_start": 730,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939010.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Pro241Ser",
"transcript": "ENST00000889803.1",
"protein_id": "ENSP00000559862.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 623,
"cds_start": 721,
"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": "ENST00000889803.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Pro239Ser",
"transcript": "ENST00000889802.1",
"protein_id": "ENSP00000559861.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 621,
"cds_start": 715,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889802.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Pro239Ser",
"transcript": "ENST00000889806.1",
"protein_id": "ENSP00000559865.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 621,
"cds_start": 715,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889806.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Pro239Ser",
"transcript": "ENST00000889807.1",
"protein_id": "ENSP00000559866.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 621,
"cds_start": 715,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889807.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Pro239Ser",
"transcript": "ENST00000939007.1",
"protein_id": "ENSP00000609066.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 621,
"cds_start": 715,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939007.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Pro239Ser",
"transcript": "ENST00000939011.1",
"protein_id": "ENSP00000609070.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 621,
"cds_start": 715,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939011.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Pro239Ser",
"transcript": "ENST00000939012.1",
"protein_id": "ENSP00000609071.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 621,
"cds_start": 715,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939012.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Pro239Ser",
"transcript": "ENST00000939013.1",
"protein_id": "ENSP00000609072.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 621,
"cds_start": 715,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939013.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Pro239Ser",
"transcript": "ENST00000939009.1",
"protein_id": "ENSP00000609068.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 620,
"cds_start": 715,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939009.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.631C>T",
"hgvs_p": "p.Pro211Ser",
"transcript": "ENST00000939008.1",
"protein_id": "ENSP00000609067.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 593,
"cds_start": 631,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939008.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.628C>T",
"hgvs_p": "p.Pro210Ser",
"transcript": "ENST00000889804.1",
"protein_id": "ENSP00000559863.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 592,
"cds_start": 628,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889804.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Pro240Ser",
"transcript": "XM_047435006.1",
"protein_id": "XP_047290962.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 622,
"cds_start": 718,
"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_047435006.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Pro239Ser",
"transcript": "XM_005245623.4",
"protein_id": "XP_005245680.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 621,
"cds_start": 715,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245623.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "c.715C>T",
"hgvs_p": "p.Pro239Ser",
"transcript": "XM_047435007.1",
"protein_id": "XP_047290963.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 621,
"cds_start": 715,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435007.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "n.585C>T",
"hgvs_p": null,
"transcript": "ENST00000272193.10",
"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": "pseudogene",
"feature": "ENST00000272193.10"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"hgvs_c": "n.298C>T",
"hgvs_p": null,
"transcript": "ENST00000480326.1",
"protein_id": "ENSP00000434093.1",
"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": "ENST00000480326.1"
}
],
"gene_symbol": "SOX13",
"gene_hgnc_id": 11192,
"dbsnp": "rs376348030",
"frequency_reference_population": 0.00024291879,
"hom_count_reference_population": 0,
"allele_count_reference_population": 392,
"gnomad_exomes_af": 0.000252482,
"gnomad_genomes_af": 0.000151099,
"gnomad_exomes_ac": 369,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31651484966278076,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.443,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0764,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.179,
"phylop100way_prediction": "Uncertain_significance",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_005686.3",
"gene_symbol": "SOX13",
"hgnc_id": 11192,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Pro240Ser"
}
],
"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
}