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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: 2-47046329-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47046329&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 47046329,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000319190.11",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1817A>G",
"hgvs_p": "p.Lys606Arg",
"transcript": "NM_020458.4",
"protein_id": "NP_065191.2",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 858,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "ENST00000319190.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1817A>G",
"hgvs_p": "p.Lys606Arg",
"transcript": "ENST00000319190.11",
"protein_id": "ENSP00000316699.5",
"transcript_support_level": 2,
"aa_start": 606,
"aa_end": null,
"aa_length": 858,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "NM_020458.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1817A>G",
"hgvs_p": "p.Lys606Arg",
"transcript": "ENST00000394850.6",
"protein_id": "ENSP00000378320.2",
"transcript_support_level": 1,
"aa_start": 606,
"aa_end": null,
"aa_length": 882,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.*1566A>G",
"hgvs_p": null,
"transcript": "ENST00000409825.5",
"protein_id": "ENSP00000386521.1",
"transcript_support_level": 1,
"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": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.*666A>G",
"hgvs_p": null,
"transcript": "ENST00000441914.5",
"protein_id": "ENSP00000393022.1",
"transcript_support_level": 1,
"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": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.924A>G",
"hgvs_p": null,
"transcript": "ENST00000484061.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.1221A>G",
"hgvs_p": null,
"transcript": "ENST00000491786.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.*1566A>G",
"hgvs_p": null,
"transcript": "ENST00000409825.5",
"protein_id": "ENSP00000386521.1",
"transcript_support_level": 1,
"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": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.*666A>G",
"hgvs_p": null,
"transcript": "ENST00000441914.5",
"protein_id": "ENSP00000393022.1",
"transcript_support_level": 1,
"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": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1817A>G",
"hgvs_p": "p.Lys606Arg",
"transcript": "NM_001288951.2",
"protein_id": "NP_001275880.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 882,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1715A>G",
"hgvs_p": "p.Lys572Arg",
"transcript": "NM_001288953.2",
"protein_id": "NP_001275882.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 824,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2439,
"cdna_end": null,
"cdna_length": 5399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1715A>G",
"hgvs_p": "p.Lys572Arg",
"transcript": "ENST00000409245.5",
"protein_id": "ENSP00000386307.1",
"transcript_support_level": 2,
"aa_start": 572,
"aa_end": null,
"aa_length": 824,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.755A>G",
"hgvs_p": "p.Lys252Arg",
"transcript": "NM_001288955.2",
"protein_id": "NP_001275884.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 504,
"cds_start": 755,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 4937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1649A>G",
"hgvs_p": "p.Lys550Arg",
"transcript": "XM_017004525.2",
"protein_id": "XP_016860014.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 802,
"cds_start": 1649,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 5431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1568A>G",
"hgvs_p": "p.Lys523Arg",
"transcript": "XM_017004526.2",
"protein_id": "XP_016860015.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 775,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1553A>G",
"hgvs_p": "p.Lys518Arg",
"transcript": "XM_047445148.1",
"protein_id": "XP_047301104.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 770,
"cds_start": 1553,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1725,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Lys487Arg",
"transcript": "XM_047445145.1",
"protein_id": "XP_047301101.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 739,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 4487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1817A>G",
"hgvs_p": "p.Lys606Arg",
"transcript": "XM_011532999.3",
"protein_id": "XP_011531301.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 681,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.1037A>G",
"hgvs_p": "p.Lys346Arg",
"transcript": "XM_011533000.4",
"protein_id": "XP_011531302.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 598,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 4261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.782A>G",
"hgvs_p": "p.Lys261Arg",
"transcript": "XM_024453013.2",
"protein_id": "XP_024308781.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 513,
"cds_start": 782,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 3827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.770A>G",
"hgvs_p": "p.Lys257Arg",
"transcript": "XM_011533001.4",
"protein_id": "XP_011531303.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 509,
"cds_start": 770,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 4019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.230A>G",
"hgvs_p": null,
"transcript": "ENST00000484337.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.15A>G",
"hgvs_p": null,
"transcript": "ENST00000496991.3",
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{
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:2",
"phenotype_combined": "not provided|Multiple gastrointestinal atresias|not specified|Gastrointestinal defects and immunodeficiency syndrome 1|TTC7A-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}