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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: 10-114290249-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114290249&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 114290249,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000392982.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.2132A>C",
"hgvs_p": "p.Gln711Pro",
"transcript": "NM_001272046.2",
"protein_id": "NP_001258975.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 755,
"cds_start": 2132,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": "ENST00000392982.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.2132A>C",
"hgvs_p": "p.Gln711Pro",
"transcript": "ENST00000392982.8",
"protein_id": "ENSP00000376708.3",
"transcript_support_level": 1,
"aa_start": 711,
"aa_end": null,
"aa_length": 755,
"cds_start": 2132,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": "NM_001272046.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.2132A>C",
"hgvs_p": "p.Gln711Pro",
"transcript": "NM_001320804.1",
"protein_id": "NP_001307733.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 755,
"cds_start": 2132,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2400,
"cdna_end": null,
"cdna_length": 5799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.2162A>C",
"hgvs_p": "p.Gln721Pro",
"transcript": "XM_017016177.2",
"protein_id": "XP_016871666.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 765,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 2211,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.2153A>C",
"hgvs_p": "p.Gln718Pro",
"transcript": "XM_017016178.2",
"protein_id": "XP_016871667.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 762,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2210,
"cdna_end": null,
"cdna_length": 5609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.2150A>C",
"hgvs_p": "p.Gln717Pro",
"transcript": "XM_017016179.3",
"protein_id": "XP_016871668.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 761,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2727,
"cdna_end": null,
"cdna_length": 6126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.2141A>C",
"hgvs_p": "p.Gln714Pro",
"transcript": "XM_011539754.3",
"protein_id": "XP_011538056.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 758,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWA2",
"gene_hgnc_id": 24709,
"hgvs_c": "c.2123A>C",
"hgvs_p": "p.Gln708Pro",
"transcript": "XM_047425155.1",
"protein_id": "XP_047281111.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 752,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 5848,
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2592+6729T>G",
"hgvs_p": null,
"transcript": "XM_047425853.1",
"protein_id": "XP_047281809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 912,
"cds_start": -4,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3686,
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2589+6729T>G",
"hgvs_p": null,
"transcript": "XM_047425854.1",
"protein_id": "XP_047281810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 911,
"cds_start": -4,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3683,
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2580+6729T>G",
"hgvs_p": null,
"transcript": "XM_047425855.1",
"protein_id": "XP_047281811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 908,
"cds_start": -4,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
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"cdna_length": 3674,
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2577+6729T>G",
"hgvs_p": null,
"transcript": "XM_047425856.1",
"protein_id": "XP_047281812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 907,
"cds_start": -4,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
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"cdna_length": 3671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2568+6729T>G",
"hgvs_p": null,
"transcript": "XM_017016795.2",
"protein_id": "XP_016872284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 904,
"cds_start": -4,
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"cds_length": 2715,
"cdna_start": null,
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"cdna_length": 3662,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2514+6729T>G",
"hgvs_p": null,
"transcript": "XM_017016796.2",
"protein_id": "XP_016872285.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3608,
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2511+6729T>G",
"hgvs_p": null,
"transcript": "XM_017016797.2",
"protein_id": "XP_016872286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 885,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3605,
"mane_select": null,
"mane_plus": null,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2508+6729T>G",
"hgvs_p": null,
"transcript": "XM_047425857.1",
"protein_id": "XP_047281813.1",
"transcript_support_level": null,
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"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2505+6729T>G",
"hgvs_p": null,
"transcript": "XM_047425858.1",
"protein_id": "XP_047281814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 883,
"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,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2502+6729T>G",
"hgvs_p": null,
"transcript": "XM_017016798.3",
"protein_id": "XP_016872287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 882,
"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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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2484+6729T>G",
"hgvs_p": null,
"transcript": "XM_005270233.5",
"protein_id": "XP_005270290.1",
"transcript_support_level": null,
"aa_start": null,
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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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2430+6729T>G",
"hgvs_p": null,
"transcript": "XM_005270237.6",
"protein_id": "XP_005270294.1",
"transcript_support_level": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2427+6729T>G",
"hgvs_p": null,
"transcript": "XM_047425864.1",
"protein_id": "XP_047281820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2418+6729T>G",
"hgvs_p": null,
"transcript": "XM_017016804.3",
"protein_id": "XP_016872293.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
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"cds_length": 2565,
"cdna_start": null,
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"cdna_length": 3512,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "AFAP1L2",
"gene_hgnc_id": 25901,
"hgvs_c": "c.2415+6729T>G",
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}
],
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}