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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: 3-9447796-G-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9447796&ref=G&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9447796,
"ref": "G",
"alt": "GA",
"effect": "frameshift_variant",
"transcript": "ENST00000402198.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.1893_1894insA",
"hgvs_p": "p.Arg632fs",
"transcript": "NM_001080517.3",
"protein_id": "NP_001073986.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 1442,
"cds_start": 1894,
"cds_end": null,
"cds_length": 4329,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 6931,
"mane_select": "ENST00000402198.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.1893_1894insA",
"hgvs_p": "p.Arg632fs",
"transcript": "ENST00000402198.7",
"protein_id": "ENSP00000385852.2",
"transcript_support_level": 5,
"aa_start": 632,
"aa_end": null,
"aa_length": 1442,
"cds_start": 1894,
"cds_end": null,
"cds_length": 4329,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 6931,
"mane_select": "NM_001080517.3",
"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": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "n.2057_2058insA",
"hgvs_p": null,
"transcript": "ENST00000493918.5",
"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": 4861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.1950_1951insA",
"hgvs_p": "p.Arg651fs",
"transcript": "NM_001437635.1",
"protein_id": "NP_001424564.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 1480,
"cds_start": 1951,
"cds_end": null,
"cds_length": 4443,
"cdna_start": 2490,
"cdna_end": null,
"cdna_length": 7037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.1989_1990insA",
"hgvs_p": "p.Arg664fs",
"transcript": "NM_001437633.1",
"protein_id": "NP_001424562.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 1474,
"cds_start": 1990,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 2529,
"cdna_end": null,
"cdna_length": 7019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.1989_1990insA",
"hgvs_p": "p.Arg664fs",
"transcript": "ENST00000682536.1",
"protein_id": "ENSP00000507956.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 1474,
"cds_start": 1990,
"cds_end": null,
"cds_length": 4425,
"cdna_start": 2263,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.1893_1894insA",
"hgvs_p": "p.Arg632fs",
"transcript": "NM_001437643.1",
"protein_id": "NP_001424572.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 1461,
"cds_start": 1894,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 2968,
"cdna_end": null,
"cdna_length": 7515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.1950_1951insA",
"hgvs_p": "p.Arg651fs",
"transcript": "ENST00000407969.5",
"protein_id": "ENSP00000384114.1",
"transcript_support_level": 5,
"aa_start": 651,
"aa_end": null,
"aa_length": 1461,
"cds_start": 1951,
"cds_end": null,
"cds_length": 4386,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.1932_1933insA",
"hgvs_p": "p.Arg645fs",
"transcript": "NM_001437701.1",
"protein_id": "NP_001424630.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1455,
"cds_start": 1933,
"cds_end": null,
"cds_length": 4368,
"cdna_start": 2472,
"cdna_end": null,
"cdna_length": 6962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.1893_1894insA",
"hgvs_p": "p.Arg632fs",
"transcript": "ENST00000406341.5",
"protein_id": "ENSP00000383939.1",
"transcript_support_level": 5,
"aa_start": 632,
"aa_end": null,
"aa_length": 1442,
"cds_start": 1894,
"cds_end": null,
"cds_length": 4329,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.1599_1600insA",
"hgvs_p": "p.Arg534fs",
"transcript": "NM_001292043.2",
"protein_id": "NP_001278972.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 1344,
"cds_start": 1600,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 2697,
"cdna_end": null,
"cdna_length": 7187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.1599_1600insA",
"hgvs_p": "p.Arg534fs",
"transcript": "NM_001349451.2",
"protein_id": "NP_001336380.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 1344,
"cds_start": 1600,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 7228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.1893_1894insA",
"hgvs_p": "p.Arg632fs",
"transcript": "ENST00000684055.1",
"protein_id": "ENSP00000507953.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 931,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2010,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.894_895insA",
"hgvs_p": "p.Arg299fs",
"transcript": "ENST00000399686.6",
"protein_id": "ENSP00000382593.2",
"transcript_support_level": 5,
"aa_start": 299,
"aa_end": null,
"aa_length": 910,
"cds_start": 895,
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"cds_length": 2733,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.108_109insA",
"hgvs_p": "p.Arg37fs",
"transcript": "ENST00000488236.5",
"protein_id": "ENSP00000507801.1",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 249,
"cds_start": 109,
"cds_end": null,
"cds_length": 750,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 1320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.2010_2011insA",
"hgvs_p": "p.Arg671fs",
"transcript": "XM_047448466.1",
"protein_id": "XP_047304422.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1500,
"cds_start": 2011,
"cds_end": null,
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"cdna_start": 7082,
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"cdna_length": 11637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.2010_2011insA",
"hgvs_p": "p.Arg671fs",
"transcript": "XM_047448467.1",
"protein_id": "XP_047304423.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1500,
"cds_start": 2011,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 6054,
"cdna_end": null,
"cdna_length": 10609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.2010_2011insA",
"hgvs_p": "p.Arg671fs",
"transcript": "XM_047448468.1",
"protein_id": "XP_047304424.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1500,
"cds_start": 2011,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 8022,
"cdna_end": null,
"cdna_length": 12577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.2010_2011insA",
"hgvs_p": "p.Arg671fs",
"transcript": "XM_047448469.1",
"protein_id": "XP_047304425.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1500,
"cds_start": 2011,
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"cdna_start": 3945,
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"cdna_length": 8500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.2010_2011insA",
"hgvs_p": "p.Arg671fs",
"transcript": "XM_047448470.1",
"protein_id": "XP_047304426.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1500,
"cds_start": 2011,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 5607,
"cdna_end": null,
"cdna_length": 10162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.2010_2011insA",
"hgvs_p": "p.Arg671fs",
"transcript": "XM_047448471.1",
"protein_id": "XP_047304427.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1500,
"cds_start": 2011,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 6306,
"cdna_end": null,
"cdna_length": 10861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
"hgvs_c": "c.2010_2011insA",
"hgvs_p": "p.Arg671fs",
"transcript": "XM_047448472.1",
"protein_id": "XP_047304428.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1500,
"cds_start": 2011,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 3720,
"cdna_end": null,
"cdna_length": 8275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD5",
"gene_hgnc_id": 25566,
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"phenotype_combined": "Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
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}