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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: 9-128536414-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128536414&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128536414,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000309971.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1706G>T",
"hgvs_p": "p.Arg569Leu",
"transcript": "NM_001003722.2",
"protein_id": "NP_001003722.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 698,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": "ENST00000309971.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1706G>T",
"hgvs_p": "p.Arg569Leu",
"transcript": "ENST00000309971.9",
"protein_id": "ENSP00000308622.5",
"transcript_support_level": 1,
"aa_start": 569,
"aa_end": null,
"aa_length": 698,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 3302,
"mane_select": "NM_001003722.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1706G>T",
"hgvs_p": "p.Arg569Leu",
"transcript": "ENST00000372770.4",
"protein_id": "ENSP00000361856.4",
"transcript_support_level": 1,
"aa_start": 569,
"aa_end": null,
"aa_length": 659,
"cds_start": 1706,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1733G>T",
"hgvs_p": "p.Arg578Leu",
"transcript": "NM_001411013.1",
"protein_id": "NP_001397942.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 707,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1733G>T",
"hgvs_p": "p.Arg578Leu",
"transcript": "ENST00000683748.1",
"protein_id": "ENSP00000507377.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 707,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 3373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1706G>T",
"hgvs_p": "p.Arg569Leu",
"transcript": "ENST00000684331.1",
"protein_id": "ENSP00000507431.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 680,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1706G>T",
"hgvs_p": "p.Arg569Leu",
"transcript": "ENST00000684314.1",
"protein_id": "ENSP00000507700.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 663,
"cds_start": 1706,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1706G>T",
"hgvs_p": "p.Arg569Leu",
"transcript": "NM_001499.2",
"protein_id": "NP_001490.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 659,
"cds_start": 1706,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1493G>T",
"hgvs_p": "p.Arg498Leu",
"transcript": "ENST00000684646.1",
"protein_id": "ENSP00000507723.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 627,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1241G>T",
"hgvs_p": "p.Arg414Leu",
"transcript": "ENST00000684139.1",
"protein_id": "ENSP00000507295.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 543,
"cds_start": 1241,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1742G>T",
"hgvs_p": "p.Arg581Leu",
"transcript": "XM_011518549.2",
"protein_id": "XP_011516851.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 710,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 3525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1742G>T",
"hgvs_p": "p.Arg581Leu",
"transcript": "XM_011518550.2",
"protein_id": "XP_011516852.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 710,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1715G>T",
"hgvs_p": "p.Arg572Leu",
"transcript": "XM_006717060.4",
"protein_id": "XP_006717123.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 701,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1715G>T",
"hgvs_p": "p.Arg572Leu",
"transcript": "XM_024447519.2",
"protein_id": "XP_024303287.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 701,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.1715G>T",
"hgvs_p": "p.Arg572Leu",
"transcript": "XM_047423234.1",
"protein_id": "XP_047279190.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 701,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2759,
"cdna_end": null,
"cdna_length": 4268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.983G>T",
"hgvs_p": "p.Arg328Leu",
"transcript": "XM_047423235.1",
"protein_id": "XP_047279191.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 457,
"cds_start": 983,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "c.956G>T",
"hgvs_p": "p.Arg319Leu",
"transcript": "XM_047423236.1",
"protein_id": "XP_047279192.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 448,
"cds_start": 956,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.*777G>T",
"hgvs_p": null,
"transcript": "ENST00000683044.1",
"protein_id": "ENSP00000507095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.*1705G>T",
"hgvs_p": null,
"transcript": "ENST00000683288.1",
"protein_id": "ENSP00000507477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.*382G>T",
"hgvs_p": null,
"transcript": "ENST00000683905.1",
"protein_id": "ENSP00000506960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.1419G>T",
"hgvs_p": null,
"transcript": "ENST00000684210.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.344G>T",
"hgvs_p": null,
"transcript": "ENST00000684463.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLE1",
"gene_hgnc_id": 4315,
"hgvs_c": "n.*777G>T",
"hgvs_p": null,
"transcript": "ENST00000683044.1",
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{
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{
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],
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}
],
"message": null
}