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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: 2-63382092-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=63382092&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 63382092,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_015910.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1438G>A",
"hgvs_p": "p.Val480Ile",
"transcript": "NM_015910.7",
"protein_id": "NP_056994.3",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 746,
"cds_start": 1438,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272321.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015910.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1438G>A",
"hgvs_p": "p.Val480Ile",
"transcript": "ENST00000272321.12",
"protein_id": "ENSP00000272321.7",
"transcript_support_level": 1,
"aa_start": 480,
"aa_end": null,
"aa_length": 746,
"cds_start": 1438,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015910.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272321.12"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1438G>A",
"hgvs_p": "p.Val480Ile",
"transcript": "ENST00000409562.7",
"protein_id": "ENSP00000387222.3",
"transcript_support_level": 1,
"aa_start": 480,
"aa_end": null,
"aa_length": 618,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409562.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "ENST00000398544.7",
"protein_id": "ENSP00000381552.3",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 587,
"cds_start": 961,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398544.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Val288Ile",
"transcript": "ENST00000409120.5",
"protein_id": "ENSP00000386769.1",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 554,
"cds_start": 862,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409120.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "n.1685G>A",
"hgvs_p": null,
"transcript": "ENST00000409835.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000409835.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1438G>A",
"hgvs_p": "p.Val480Ile",
"transcript": "ENST00000946854.1",
"protein_id": "ENSP00000616913.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 793,
"cds_start": 1438,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946854.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Val456Ile",
"transcript": "NM_001354044.2",
"protein_id": "NP_001340973.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 722,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354044.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Val416Ile",
"transcript": "ENST00000946852.1",
"protein_id": "ENSP00000616911.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 682,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946852.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1438G>A",
"hgvs_p": "p.Val480Ile",
"transcript": "NM_001354045.2",
"protein_id": "NP_001340974.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 649,
"cds_start": 1438,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354045.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Val333Ile",
"transcript": "ENST00000872047.1",
"protein_id": "ENSP00000542106.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 599,
"cds_start": 997,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872047.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Val321Ile",
"transcript": "NM_001042692.3",
"protein_id": "NP_001036157.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 587,
"cds_start": 961,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042692.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Val288Ile",
"transcript": "ENST00000409199.5",
"protein_id": "ENSP00000386592.1",
"transcript_support_level": 2,
"aa_start": 288,
"aa_end": null,
"aa_length": 554,
"cds_start": 862,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409199.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1438G>A",
"hgvs_p": "p.Val480Ile",
"transcript": "XM_005264348.5",
"protein_id": "XP_005264405.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 781,
"cds_start": 1438,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264348.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Val456Ile",
"transcript": "XM_011532881.4",
"protein_id": "XP_011531183.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 757,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532881.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Val456Ile",
"transcript": "XM_047444626.1",
"protein_id": "XP_047300582.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 757,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444626.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Val456Ile",
"transcript": "XM_047444627.1",
"protein_id": "XP_047300583.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 757,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444627.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Val456Ile",
"transcript": "XM_047444628.1",
"protein_id": "XP_047300584.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 757,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444628.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Val456Ile",
"transcript": "XM_047444629.1",
"protein_id": "XP_047300585.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 757,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444629.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Val447Ile",
"transcript": "XM_047444630.1",
"protein_id": "XP_047300586.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 748,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444630.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDPCP",
"gene_hgnc_id": 28027,
"hgvs_c": "c.1366G>A",
"hgvs_p": "p.Val456Ile",
"transcript": "XM_047444631.1",
"protein_id": "XP_047300587.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 722,
"cds_start": 1366,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444631.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
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}
],
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}