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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: 2-85863421-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85863421&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85863421,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000638572.2",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Trp49*",
"transcript": "NM_003896.4",
"protein_id": "NP_003887.3",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 418,
"cds_start": 147,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": "ENST00000638572.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Trp49*",
"transcript": "ENST00000638572.2",
"protein_id": "ENSP00000491316.1",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 418,
"cds_start": 147,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": "NM_003896.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.78G>A",
"hgvs_p": "p.Trp26*",
"transcript": "ENST00000393808.8",
"protein_id": "ENSP00000377397.3",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 395,
"cds_start": 78,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 131,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Trp21*",
"transcript": "ENST00000393805.6",
"protein_id": "ENSP00000377394.1",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 390,
"cds_start": 63,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.204G>A",
"hgvs_p": "p.Trp68*",
"transcript": "ENST00000640418.1",
"protein_id": "ENSP00000492098.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 437,
"cds_start": 204,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.144G>A",
"hgvs_p": "p.Trp48*",
"transcript": "ENST00000639305.1",
"protein_id": "ENSP00000492244.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 406,
"cds_start": 144,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 145,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.78G>A",
"hgvs_p": "p.Trp26*",
"transcript": "NM_001042437.2",
"protein_id": "NP_001035902.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 395,
"cds_start": 78,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 131,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Trp21*",
"transcript": "NM_001354227.2",
"protein_id": "NP_001341156.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 390,
"cds_start": 63,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Trp21*",
"transcript": "NM_001354229.2",
"protein_id": "NP_001341158.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 390,
"cds_start": 63,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Trp21*",
"transcript": "NM_001354238.1",
"protein_id": "NP_001341167.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 390,
"cds_start": 63,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Trp21*",
"transcript": "ENST00000638986.1",
"protein_id": "ENSP00000491853.1",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 390,
"cds_start": 63,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Trp21*",
"transcript": "ENST00000639432.1",
"protein_id": "ENSP00000491828.1",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 390,
"cds_start": 63,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Trp21*",
"transcript": "ENST00000640322.1",
"protein_id": "ENSP00000491564.1",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 390,
"cds_start": 63,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Trp21*",
"transcript": "ENST00000640982.1",
"protein_id": "ENSP00000492299.1",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
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"cds_start": 63,
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"cdna_start": 407,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Trp21*",
"transcript": "ENST00000640992.1",
"protein_id": "ENSP00000492753.1",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 390,
"cds_start": 63,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Trp49*",
"transcript": "ENST00000377332.8",
"protein_id": "ENSP00000366549.4",
"transcript_support_level": 5,
"aa_start": 49,
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"cds_start": 147,
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"cdna_start": 200,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Trp49*",
"transcript": "NM_001363847.1",
"protein_id": "NP_001350776.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 365,
"cds_start": 147,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.147G>A",
"hgvs_p": "p.Trp49*",
"transcript": "ENST00000639119.1",
"protein_id": "ENSP00000492045.1",
"transcript_support_level": 5,
"aa_start": 49,
"aa_end": null,
"aa_length": 365,
"cds_start": 147,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Trp21*",
"transcript": "ENST00000638178.1",
"protein_id": "ENSP00000492103.1",
"transcript_support_level": 5,
"aa_start": 21,
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"aa_length": 337,
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"cds_end": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "W",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.123G>A",
"hgvs_p": "p.Trp41*",
"transcript": "ENST00000640315.1",
"protein_id": "ENSP00000492089.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 223,
"cds_start": 123,
"cds_end": null,
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"cdna_start": 123,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Trp21*",
"transcript": "ENST00000455892.1",
"protein_id": "ENSP00000401375.1",
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"aa_start": 21,
"aa_end": null,
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"cds_start": 63,
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"cdna_start": 175,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Trp21*",
"transcript": "ENST00000638258.1",
"protein_id": "ENSP00000491126.1",
"transcript_support_level": 3,
"aa_start": 21,
"aa_end": null,
"aa_length": 36,
"cds_start": 63,
"cds_end": null,
"cds_length": 111,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Trp21*",
"transcript": "XM_047446237.1",
"protein_id": "XP_047302193.1",
"transcript_support_level": null,
"aa_start": 21,
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}
],
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}