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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: 14-57583363-C-CTGAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=57583363&ref=C&alt=CTGAT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 57583363,
"ref": "C",
"alt": "CTGAT",
"effect": "intron_variant",
"transcript": "ENST00000556826.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.588-1934_588-1931dupATCA",
"hgvs_p": null,
"transcript": "NM_001306087.2",
"protein_id": "NP_001293016.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": -4,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": "ENST00000556826.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.588-1931_588-1930insATCA",
"hgvs_p": null,
"transcript": "ENST00000556826.6",
"protein_id": "ENSP00000452086.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": -4,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": "NM_001306087.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.219-1931_219-1930insATCA",
"hgvs_p": null,
"transcript": "ENST00000554729.5",
"protein_id": "ENSP00000451990.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "n.219-1931_219-1930insATCA",
"hgvs_p": null,
"transcript": "ENST00000557254.5",
"protein_id": "ENSP00000450836.1",
"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": 2700,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35F4-AS1",
"gene_hgnc_id": 58292,
"hgvs_c": "n.3053_3056dupATTG",
"hgvs_p": null,
"transcript": "XR_007064193.1",
"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": 3450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.-2117_-2114dupATCA",
"hgvs_p": null,
"transcript": "XM_047431343.1",
"protein_id": "XP_047287299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 227,
"cds_start": -4,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.696-1931_696-1930insATCA",
"hgvs_p": null,
"transcript": "ENST00000339762.10",
"protein_id": "ENSP00000342518.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.585-1934_585-1931dupATCA",
"hgvs_p": null,
"transcript": "NM_001206920.2",
"protein_id": "NP_001193849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": -4,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.579-1934_579-1931dupATCA",
"hgvs_p": null,
"transcript": "NM_001352015.3",
"protein_id": "NP_001338944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": -4,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1687,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.522-1934_522-1931dupATCA",
"hgvs_p": null,
"transcript": "NM_001352012.2",
"protein_id": "NP_001338941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": -4,
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"cds_length": 1392,
"cdna_start": null,
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"cdna_length": 2053,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
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"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.219-1934_219-1931dupATCA",
"hgvs_p": null,
"transcript": "NM_001352014.2",
"protein_id": "NP_001338943.1",
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"cds_start": -4,
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"feature": null
},
{
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "SLC35F4",
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"hgvs_c": "c.588-1934_588-1931dupATCA",
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"transcript": "NM_001352011.2",
"protein_id": "NP_001338940.1",
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.579-1934_579-1931dupATCA",
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"transcript": "NM_001352016.2",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 3,
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"gene_symbol": "SLC35F4",
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"hgvs_c": "c.-434-1934_-434-1931dupATCA",
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"transcript": "NM_001352013.2",
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},
{
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"strand": true,
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],
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"intron_rank": 4,
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"gene_symbol": "ENSG00000259039",
"gene_hgnc_id": 58292,
"hgvs_c": "n.872+1848_872+1849insTGAT",
"hgvs_p": null,
"transcript": "ENST00000647916.1",
"protein_id": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 6,
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"gene_symbol": "SLC35F4",
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"hgvs_c": "n.1146-1934_1146-1931dupATCA",
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},
{
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "n.714-1934_714-1931dupATCA",
"hgvs_p": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
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"hgvs_c": "n.714-1934_714-1931dupATCA",
"hgvs_p": null,
"transcript": "NR_159375.2",
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},
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],
"exon_rank": null,
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"gene_symbol": "SLC35F4",
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],
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"intron_rank": 5,
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"hgvs_c": "c.729-1934_729-1931dupATCA",
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},
{
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],
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"intron_rank": 5,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.549-1934_549-1931dupATCA",
"hgvs_p": null,
"transcript": "XM_011536723.4",
"protein_id": "XP_011535025.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC35F4",
"gene_hgnc_id": 19845,
"hgvs_c": "c.534-1934_534-1931dupATCA",
"hgvs_p": null,
"transcript": "XM_011536724.4",
"protein_id": "XP_011535026.1",
"transcript_support_level": null,
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{
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"verdict": "Benign",
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{
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"verdict": "Benign",
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{
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"verdict": "Benign",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}