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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: 17-46512972-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=46512972&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 46512972,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001006607.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "NM_001006607.3",
"protein_id": "NP_001006608.2",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1700,
"cds_start": 260,
"cds_end": null,
"cds_length": 5103,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 5415,
"mane_select": "ENST00000576629.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006607.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "ENST00000576629.6",
"protein_id": "ENSP00000459551.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 1700,
"cds_start": 260,
"cds_end": null,
"cds_length": 5103,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 5415,
"mane_select": "NM_001006607.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576629.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "NM_001385803.1",
"protein_id": "NP_001372732.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1698,
"cds_start": 260,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385803.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "ENST00000706058.1",
"protein_id": "ENSP00000516210.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1541,
"cds_start": 260,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 4683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706058.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "XM_011524841.4",
"protein_id": "XP_011523143.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1676,
"cds_start": 260,
"cds_end": null,
"cds_length": 5031,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 5343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524841.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "XM_011524842.4",
"protein_id": "XP_011523144.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1665,
"cds_start": 260,
"cds_end": null,
"cds_length": 4998,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 5310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524842.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "XM_011524843.4",
"protein_id": "XP_011523145.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1651,
"cds_start": 260,
"cds_end": null,
"cds_length": 4956,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524843.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "XM_011524844.4",
"protein_id": "XP_011523146.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1649,
"cds_start": 260,
"cds_end": null,
"cds_length": 4950,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 5262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524844.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "XM_047436141.1",
"protein_id": "XP_047292097.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1643,
"cds_start": 260,
"cds_end": null,
"cds_length": 4932,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 5188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436141.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "XM_011524846.4",
"protein_id": "XP_011523148.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1625,
"cds_start": 260,
"cds_end": null,
"cds_length": 4878,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 5190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524846.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "XM_047436142.1",
"protein_id": "XP_047292098.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1608,
"cds_start": 260,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 5083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436142.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "XM_024450773.2",
"protein_id": "XP_024306541.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1604,
"cds_start": 260,
"cds_end": null,
"cds_length": 4815,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450773.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "XM_011524848.4",
"protein_id": "XP_011523150.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1600,
"cds_start": 260,
"cds_end": null,
"cds_length": 4803,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 5115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524848.4"
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "XM_011524849.3",
"protein_id": "XP_011523151.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1018,
"cds_start": 260,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524849.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Leu87Pro",
"transcript": "XM_011524850.4",
"protein_id": "XP_011523152.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 969,
"cds_start": 260,
"cds_end": null,
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"cdna_start": 505,
"cdna_end": null,
"cdna_length": 3204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524850.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRRC37A2",
"gene_hgnc_id": 32404,
"hgvs_c": "c.-89+1364T>C",
"hgvs_p": null,
"transcript": "ENST00000705813.1",
"protein_id": "ENSP00000516171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": null,
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"cds_length": 2034,
"cdna_start": null,
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"cdna_length": 3554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705813.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARL17A",
"gene_hgnc_id": 24096,
"hgvs_c": "c.*21+4122A>G",
"hgvs_p": null,
"transcript": "ENST00000706251.1",
"protein_id": "ENSP00000516298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": null,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706251.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ARL17A",
"gene_hgnc_id": 24096,
"hgvs_c": "c.*22-4082A>G",
"hgvs_p": null,
"transcript": "ENST00000706304.1",
"protein_id": "ENSP00000516344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1023,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000706304.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARL17A",
"gene_hgnc_id": 24096,
"hgvs_c": "c.*53+4122A>G",
"hgvs_p": null,
"transcript": "ENST00000706303.1",
"protein_id": "ENSP00000516343.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706303.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARL17A",
"gene_hgnc_id": 24096,
"hgvs_c": "c.*21+4122A>G",
"hgvs_p": null,
"transcript": "ENST00000706253.1",
"protein_id": "ENSP00000516300.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706253.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARL17A",
"gene_hgnc_id": 24096,
"hgvs_c": "c.*76+4122A>G",
"hgvs_p": null,
"transcript": "ENST00000706248.1",
"protein_id": "ENSP00000516295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": null,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706248.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARL17A",
"gene_hgnc_id": 24096,
"hgvs_c": "c.*22-4082A>G",
"hgvs_p": null,
"transcript": "NM_001288812.1",
"protein_id": "NP_001275741.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": null,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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],
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}