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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: 16-89524249-TGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89524249&ref=TGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89524249,
"ref": "TGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000645818.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.618+11_618+68delGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGAGAGTGAGG",
"hgvs_p": null,
"transcript": "NM_003119.4",
"protein_id": "NP_003110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": -4,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": "ENST00000645818.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.618+3_618+60delGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA",
"hgvs_p": null,
"transcript": "ENST00000645818.2",
"protein_id": "ENSP00000495795.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": -4,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": "NM_003119.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.618+3_618+60delGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA",
"hgvs_p": null,
"transcript": "ENST00000268704.7",
"protein_id": "ENSP00000268704.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 788,
"cds_start": -4,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.618+3_618+60delGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA",
"hgvs_p": null,
"transcript": "ENST00000341316.6",
"protein_id": "ENSP00000341157.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": -4,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.482+3_482+60delGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA",
"hgvs_p": null,
"transcript": "ENST00000562775.2",
"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": 1534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.618+11_618+68delGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGAGAGTGAGG",
"hgvs_p": null,
"transcript": "NM_001363850.1",
"protein_id": "NP_001350779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 809,
"cds_start": -4,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.618+3_618+60delGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA",
"hgvs_p": null,
"transcript": "ENST00000645063.1",
"protein_id": "ENSP00000493590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 809,
"cds_start": -4,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.618+3_618+60delGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA",
"hgvs_p": null,
"transcript": "ENST00000644781.1",
"protein_id": "ENSP00000495473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": -4,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.618+3_618+60delGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA",
"hgvs_p": null,
"transcript": "ENST00000643649.1",
"protein_id": "ENSP00000494806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2507,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
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"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "c.486+3_486+60delGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA",
"hgvs_p": null,
"transcript": "ENST00000646303.1",
"protein_id": "ENSP00000494160.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 2,
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"gene_symbol": "SPG7",
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"hgvs_c": "c.279+3_279+60delGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA",
"hgvs_p": null,
"transcript": "ENST00000644671.1",
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},
{
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"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "SPG7",
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"hgvs_c": "c.210+3_210+60delGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA",
"hgvs_p": null,
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},
{
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"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "SPG7",
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},
{
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"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "SPG7",
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"hgvs_c": "c.231+3_231+60delGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA",
"hgvs_p": null,
"transcript": "ENST00000647032.1",
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},
{
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],
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},
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],
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"gene_symbol": "SPG7",
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"hgvs_c": "c.376+11213_376+11270delGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA",
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},
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],
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"gene_symbol": "SPG7",
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"hgvs_c": "c.618+11_618+68delGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGAGAGTGAGG",
"hgvs_p": null,
"transcript": "NM_199367.3",
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},
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],
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},
{
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"intron_variant"
],
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"gene_symbol": "SPG7",
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"hgvs_c": "c.618+3_618+60delGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.627+3_627+60delGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA",
"hgvs_p": null,
"transcript": "ENST00000564047.2",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPG7",
"gene_hgnc_id": 11237,
"hgvs_c": "n.387+3_387+60delGAGTGAGGGTGCGGGAGGCCTGTGAGTGAGGGTGTGGGCACAGGCTGGCAGCCTGTGA",
"hgvs_p": null,
"transcript": "ENST00000564409.2",
"protein_id": "ENSP00000495297.1",
"transcript_support_level": 3,
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"phenotype_combined": "Hereditary spastic paraplegia 7|not provided",
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}
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}