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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: 10-95664129-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95664129&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 95664129,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015631.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"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.1762G>A",
"hgvs_p": "p.Val588Ile",
"transcript": "NM_015631.6",
"protein_id": "NP_056446.4",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 607,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": "ENST00000371217.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1762G>A",
"hgvs_p": "p.Val588Ile",
"transcript": "ENST00000371217.10",
"protein_id": "ENSP00000360261.5",
"transcript_support_level": 1,
"aa_start": 588,
"aa_end": null,
"aa_length": 607,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": "NM_015631.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1816G>A",
"hgvs_p": "p.Val606Ile",
"transcript": "ENST00000265993.13",
"protein_id": "ENSP00000265993.9",
"transcript_support_level": 1,
"aa_start": 606,
"aa_end": null,
"aa_length": 625,
"cds_start": 1816,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 2734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1801G>A",
"hgvs_p": "p.Val601Ile",
"transcript": "ENST00000614499.5",
"protein_id": "ENSP00000483364.2",
"transcript_support_level": 1,
"aa_start": 601,
"aa_end": null,
"aa_length": 620,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 1837,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1318G>A",
"hgvs_p": "p.Val440Ile",
"transcript": "ENST00000430368.6",
"protein_id": "ENSP00000387567.1",
"transcript_support_level": 2,
"aa_start": 440,
"aa_end": null,
"aa_length": 459,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1666G>A",
"hgvs_p": "p.Val556Ile",
"transcript": "NM_001410982.1",
"protein_id": "NP_001397911.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 575,
"cds_start": 1666,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1694,
"cdna_end": null,
"cdna_length": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1666G>A",
"hgvs_p": "p.Val556Ile",
"transcript": "ENST00000680144.1",
"protein_id": "ENSP00000506398.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 575,
"cds_start": 1666,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1513G>A",
"hgvs_p": "p.Val505Ile",
"transcript": "ENST00000680353.1",
"protein_id": "ENSP00000505367.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 524,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 5872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1510G>A",
"hgvs_p": "p.Val504Ile",
"transcript": "ENST00000680709.1",
"protein_id": "ENSP00000505830.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 523,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 2235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1318G>A",
"hgvs_p": "p.Val440Ile",
"transcript": "NM_001143973.2",
"protein_id": "NP_001137445.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 459,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.418G>A",
"hgvs_p": "p.Val140Ile",
"transcript": "ENST00000680781.1",
"protein_id": "ENSP00000505807.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 159,
"cds_start": 418,
"cds_end": null,
"cds_length": 480,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 1131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1747G>A",
"hgvs_p": "p.Val583Ile",
"transcript": "XM_011539627.3",
"protein_id": "XP_011537929.2",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 602,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1681G>A",
"hgvs_p": "p.Val561Ile",
"transcript": "XM_005269690.3",
"protein_id": "XP_005269747.2",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 580,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1624G>A",
"hgvs_p": "p.Val542Ile",
"transcript": "XM_011539628.3",
"protein_id": "XP_011537930.2",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 561,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1609G>A",
"hgvs_p": "p.Val537Ile",
"transcript": "XM_047425041.1",
"protein_id": "XP_047280997.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 556,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1528G>A",
"hgvs_p": "p.Val510Ile",
"transcript": "XM_047425042.1",
"protein_id": "XP_047280998.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 529,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1556,
"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.*1002G>A",
"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.1957G>A",
"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.464G>A",
"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.2143G>A",
"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.*302G>A",
"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.*1002G>A",
"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.*302G>A",
"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": "rs1416641435",
"frequency_reference_population": 6.840441e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84044e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03344336152076721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.0707,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.443,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_015631.6",
"gene_symbol": "TCTN3",
"hgnc_id": 24519,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1762G>A",
"hgvs_p": "p.Val588Ile"
}
],
"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
}