← Back to variant description
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: 10-95664075-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95664075&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 95664075,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015631.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1816A>G",
"hgvs_p": "p.Thr606Ala",
"transcript": "NM_015631.6",
"protein_id": "NP_056446.4",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 607,
"cds_start": 1816,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": "ENST00000371217.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1816A>G",
"hgvs_p": "p.Thr606Ala",
"transcript": "ENST00000371217.10",
"protein_id": "ENSP00000360261.5",
"transcript_support_level": 1,
"aa_start": 606,
"aa_end": null,
"aa_length": 607,
"cds_start": 1816,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": "NM_015631.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1870A>G",
"hgvs_p": "p.Thr624Ala",
"transcript": "ENST00000265993.13",
"protein_id": "ENSP00000265993.9",
"transcript_support_level": 1,
"aa_start": 624,
"aa_end": null,
"aa_length": 625,
"cds_start": 1870,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1855A>G",
"hgvs_p": "p.Thr619Ala",
"transcript": "ENST00000614499.5",
"protein_id": "ENSP00000483364.2",
"transcript_support_level": 1,
"aa_start": 619,
"aa_end": null,
"aa_length": 620,
"cds_start": 1855,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1372A>G",
"hgvs_p": "p.Thr458Ala",
"transcript": "ENST00000430368.6",
"protein_id": "ENSP00000387567.1",
"transcript_support_level": 2,
"aa_start": 458,
"aa_end": null,
"aa_length": 459,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1720A>G",
"hgvs_p": "p.Thr574Ala",
"transcript": "NM_001410982.1",
"protein_id": "NP_001397911.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 575,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1720A>G",
"hgvs_p": "p.Thr574Ala",
"transcript": "ENST00000680144.1",
"protein_id": "ENSP00000506398.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 575,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1567A>G",
"hgvs_p": "p.Thr523Ala",
"transcript": "ENST00000680353.1",
"protein_id": "ENSP00000505367.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 524,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 5872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1564A>G",
"hgvs_p": "p.Thr522Ala",
"transcript": "ENST00000680709.1",
"protein_id": "ENSP00000505830.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 523,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 2235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1372A>G",
"hgvs_p": "p.Thr458Ala",
"transcript": "NM_001143973.2",
"protein_id": "NP_001137445.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 459,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Thr158Ala",
"transcript": "ENST00000680781.1",
"protein_id": "ENSP00000505807.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 159,
"cds_start": 472,
"cds_end": null,
"cds_length": 480,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 1131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1801A>G",
"hgvs_p": "p.Thr601Ala",
"transcript": "XM_011539627.3",
"protein_id": "XP_011537929.2",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 602,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1735A>G",
"hgvs_p": "p.Thr579Ala",
"transcript": "XM_005269690.3",
"protein_id": "XP_005269747.2",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 580,
"cds_start": 1735,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1678A>G",
"hgvs_p": "p.Thr560Ala",
"transcript": "XM_011539628.3",
"protein_id": "XP_011537930.2",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 561,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1663A>G",
"hgvs_p": "p.Thr555Ala",
"transcript": "XM_047425041.1",
"protein_id": "XP_047280997.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 556,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "c.1582A>G",
"hgvs_p": "p.Thr528Ala",
"transcript": "XM_047425042.1",
"protein_id": "XP_047280998.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 529,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "n.*1056A>G",
"hgvs_p": null,
"transcript": "ENST00000679984.1",
"protein_id": "ENSP00000504998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "n.2011A>G",
"hgvs_p": null,
"transcript": "ENST00000680697.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "n.518A>G",
"hgvs_p": null,
"transcript": "ENST00000681185.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "n.2197A>G",
"hgvs_p": null,
"transcript": "ENST00000681739.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "n.*356A>G",
"hgvs_p": null,
"transcript": "ENST00000681928.1",
"protein_id": "ENSP00000505552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "n.*1056A>G",
"hgvs_p": null,
"transcript": "ENST00000679984.1",
"protein_id": "ENSP00000504998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"hgvs_c": "n.*356A>G",
"hgvs_p": null,
"transcript": "ENST00000681928.1",
"protein_id": "ENSP00000505552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TCTN3",
"gene_hgnc_id": 24519,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06953534483909607,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.111,
"revel_prediction": "Benign",
"alphamissense_score": 0.0755,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.835,
"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_015631.6",
"gene_symbol": "TCTN3",
"hgnc_id": 24519,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1816A>G",
"hgvs_p": "p.Thr606Ala"
}
],
"clinvar_disease": "Joubert syndrome 18,Orofacial-digital syndrome IV",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Joubert syndrome 18;Orofacial-digital syndrome IV",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}