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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: 3-134559428-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=134559428&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 134559428,
"ref": "C",
"alt": "A",
"effect": "stop_gained,splice_region_variant",
"transcript": "ENST00000675561.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1952C>A",
"hgvs_p": "p.Ser651*",
"transcript": "NM_001353108.3",
"protein_id": "NP_001340037.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 703,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2123,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": "ENST00000675561.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1952C>A",
"hgvs_p": "p.Ser651*",
"transcript": "ENST00000675561.1",
"protein_id": "ENSP00000502085.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 703,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2123,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": "NM_001353108.3",
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1468-1949C>A",
"hgvs_p": null,
"transcript": "ENST00000383229.8",
"protein_id": "ENSP00000372716.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": -4,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5293,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1330-1949C>A",
"hgvs_p": null,
"transcript": "ENST00000332047.10",
"protein_id": "ENSP00000328382.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": -4,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1952C>A",
"hgvs_p": "p.Ser651*",
"transcript": "NM_025180.5",
"protein_id": "NP_079456.2",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 703,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2549,
"cdna_end": null,
"cdna_length": 6205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1952C>A",
"hgvs_p": "p.Ser651*",
"transcript": "ENST00000513612.7",
"protein_id": "ENSP00000426129.1",
"transcript_support_level": 2,
"aa_start": 651,
"aa_end": null,
"aa_length": 703,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 6035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1952C>A",
"hgvs_p": "p.Ser651*",
"transcript": "ENST00000606977.5",
"protein_id": "ENSP00000475903.1",
"transcript_support_level": 5,
"aa_start": 651,
"aa_end": null,
"aa_length": 703,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1952C>A",
"hgvs_p": "p.Ser651*",
"transcript": "ENST00000683596.1",
"protein_id": "ENSP00000506896.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 703,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1868C>A",
"hgvs_p": "p.Ser623*",
"transcript": "ENST00000683190.1",
"protein_id": "ENSP00000508034.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 675,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1814C>A",
"hgvs_p": "p.Ser605*",
"transcript": "NM_001353109.1",
"protein_id": "NP_001340038.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 657,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 5821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1814C>A",
"hgvs_p": "p.Ser605*",
"transcript": "ENST00000682402.1",
"protein_id": "ENSP00000507548.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 657,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2175,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1814C>A",
"hgvs_p": "p.Ser605*",
"transcript": "ENST00000682458.1",
"protein_id": "ENSP00000507263.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 657,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 5511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1985C>A",
"hgvs_p": "p.Ser662*",
"transcript": "XM_024453768.2",
"protein_id": "XP_024309536.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 714,
"cds_start": 1985,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 5943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1979C>A",
"hgvs_p": "p.Ser660*",
"transcript": "XM_005247795.6",
"protein_id": "XP_005247852.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
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"cds_start": 1979,
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"cdna_start": 2074,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1952C>A",
"hgvs_p": "p.Ser651*",
"transcript": "XM_005247797.4",
"protein_id": "XP_005247854.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 703,
"cds_start": 1952,
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"cdna_start": 2477,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1952C>A",
"hgvs_p": "p.Ser651*",
"transcript": "XM_006713760.5",
"protein_id": "XP_006713823.1",
"transcript_support_level": null,
"aa_start": 651,
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"cds_start": 1952,
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"cdna_start": 2078,
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"cdna_length": 5734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1952C>A",
"hgvs_p": "p.Ser651*",
"transcript": "XM_047448996.1",
"protein_id": "XP_047304952.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 703,
"cds_start": 1952,
"cds_end": null,
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"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 5652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1868C>A",
"hgvs_p": "p.Ser623*",
"transcript": "XM_024453769.2",
"protein_id": "XP_024309537.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 675,
"cds_start": 1868,
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"cdna_start": 2119,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1868C>A",
"hgvs_p": "p.Ser623*",
"transcript": "XM_024453771.2",
"protein_id": "XP_024309539.1",
"transcript_support_level": null,
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"cds_start": 1868,
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"cdna_start": 2045,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1847C>A",
"hgvs_p": "p.Ser616*",
"transcript": "XM_047448998.1",
"protein_id": "XP_047304954.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 668,
"cds_start": 1847,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1841C>A",
"hgvs_p": "p.Ser614*",
"transcript": "XM_047448999.1",
"protein_id": "XP_047304955.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 666,
"cds_start": 1841,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 5592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1814C>A",
"hgvs_p": "p.Ser605*",
"transcript": "XM_017007247.3",
"protein_id": "XP_016862736.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 657,
"cds_start": 1814,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1985,
"cdna_end": null,
"cdna_length": 5641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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{
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}
],
"message": null
}