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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: 1-168045209-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=168045209&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 168045209,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000367840.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.2240G>A",
"hgvs_p": "p.Arg747Gln",
"transcript": "NM_001198956.2",
"protein_id": "NP_001185885.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 951,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 2469,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": "ENST00000367840.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.2240G>A",
"hgvs_p": "p.Arg747Gln",
"transcript": "ENST00000367840.4",
"protein_id": "ENSP00000356814.3",
"transcript_support_level": 1,
"aa_start": 747,
"aa_end": null,
"aa_length": 951,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 2469,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": "NM_001198956.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.2009G>A",
"hgvs_p": "p.Arg670Gln",
"transcript": "ENST00000312263.10",
"protein_id": "ENSP00000311949.6",
"transcript_support_level": 1,
"aa_start": 670,
"aa_end": null,
"aa_length": 860,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.2240G>A",
"hgvs_p": "p.Arg747Gln",
"transcript": "NM_001349773.2",
"protein_id": "NP_001336702.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 937,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2469,
"cdna_end": null,
"cdna_length": 3444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.2147G>A",
"hgvs_p": "p.Arg716Gln",
"transcript": "NM_001198957.2",
"protein_id": "NP_001185886.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 920,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2376,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.2147G>A",
"hgvs_p": "p.Arg716Gln",
"transcript": "ENST00000432587.6",
"protein_id": "ENSP00000396238.2",
"transcript_support_level": 2,
"aa_start": 716,
"aa_end": null,
"aa_length": 920,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.2069G>A",
"hgvs_p": "p.Arg690Gln",
"transcript": "NM_001393651.1",
"protein_id": "NP_001380580.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 894,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.2069G>A",
"hgvs_p": "p.Arg690Gln",
"transcript": "NM_018442.4",
"protein_id": "NP_060912.2",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 880,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.2069G>A",
"hgvs_p": "p.Arg690Gln",
"transcript": "ENST00000367843.7",
"protein_id": "ENSP00000356817.3",
"transcript_support_level": 5,
"aa_start": 690,
"aa_end": null,
"aa_length": 880,
"cds_start": 2069,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.2009G>A",
"hgvs_p": "p.Arg670Gln",
"transcript": "NM_001393650.1",
"protein_id": "NP_001380579.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 874,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.2009G>A",
"hgvs_p": "p.Arg670Gln",
"transcript": "NM_001017977.3",
"protein_id": "NP_001017977.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 860,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.1628G>A",
"hgvs_p": "p.Arg543Gln",
"transcript": "NM_001349774.2",
"protein_id": "NP_001336703.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 733,
"cds_start": 1628,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2243,
"cdna_end": null,
"cdna_length": 3218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.1628G>A",
"hgvs_p": "p.Arg543Gln",
"transcript": "NM_001349775.2",
"protein_id": "NP_001336704.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 733,
"cds_start": 1628,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.1628G>A",
"hgvs_p": "p.Arg543Gln",
"transcript": "NM_001349776.2",
"protein_id": "NP_001336705.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
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"cds_start": 1628,
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"cdna_start": 2111,
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"cdna_length": 3086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.1628G>A",
"hgvs_p": "p.Arg543Gln",
"transcript": "NM_001349777.2",
"protein_id": "NP_001336706.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 733,
"cds_start": 1628,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 3211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.1568G>A",
"hgvs_p": "p.Arg523Gln",
"transcript": "NM_001349778.2",
"protein_id": "NP_001336707.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 713,
"cds_start": 1568,
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"cdna_start": 2183,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.1568G>A",
"hgvs_p": "p.Arg523Gln",
"transcript": "NM_001349779.2",
"protein_id": "NP_001336708.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 713,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.1568G>A",
"hgvs_p": "p.Arg523Gln",
"transcript": "NM_001349780.2",
"protein_id": "NP_001336709.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 713,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.1799G>A",
"hgvs_p": "p.Arg600Gln",
"transcript": "XM_017001779.3",
"protein_id": "XP_016857268.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 804,
"cds_start": 1799,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.1799G>A",
"hgvs_p": "p.Arg600Gln",
"transcript": "XM_024448371.2",
"protein_id": "XP_024304139.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
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"cds_start": 1799,
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"cdna_start": 2317,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.1799G>A",
"hgvs_p": "p.Arg600Gln",
"transcript": "XM_047425193.1",
"protein_id": "XP_047281149.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 804,
"cds_start": 1799,
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"cds_length": 2415,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF6",
"gene_hgnc_id": 30002,
"hgvs_c": "c.1799G>A",
"hgvs_p": "p.Arg600Gln",
"transcript": "XM_047425194.1",
"protein_id": "XP_047281150.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 804,
"cds_start": 1799,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 2406,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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}
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}