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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: 18-34875342-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=34875342&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 34875342,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000444659.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1847C>G",
"hgvs_p": "p.Thr616Arg",
"transcript": "NM_001386795.1",
"protein_id": "NP_001373724.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 770,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": "ENST00000444659.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1847C>G",
"hgvs_p": "p.Thr616Arg",
"transcript": "ENST00000444659.6",
"protein_id": "ENSP00000405819.2",
"transcript_support_level": 5,
"aa_start": 616,
"aa_end": null,
"aa_length": 770,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": "NM_001386795.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1586C>G",
"hgvs_p": "p.Thr529Arg",
"transcript": "ENST00000598334.5",
"protein_id": "ENSP00000470152.1",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 724,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1607C>G",
"hgvs_p": "p.Thr536Arg",
"transcript": "ENST00000399121.9",
"protein_id": "ENSP00000382072.5",
"transcript_support_level": 1,
"aa_start": 536,
"aa_end": null,
"aa_length": 690,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 1914,
"cdna_end": null,
"cdna_length": 6490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1595C>G",
"hgvs_p": "p.Thr532Arg",
"transcript": "ENST00000598142.5",
"protein_id": "ENSP00000470716.1",
"transcript_support_level": 1,
"aa_start": 532,
"aa_end": null,
"aa_length": 686,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1586C>G",
"hgvs_p": "p.Thr529Arg",
"transcript": "ENST00000595022.5",
"protein_id": "ENSP00000473078.1",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 683,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 6016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.710C>G",
"hgvs_p": "p.Thr237Arg",
"transcript": "ENST00000591182.5",
"protein_id": "ENSP00000467720.1",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 391,
"cds_start": 710,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1847C>G",
"hgvs_p": "p.Thr616Arg",
"transcript": "NM_001386788.1",
"protein_id": "NP_001373717.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 770,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1847C>G",
"hgvs_p": "p.Thr616Arg",
"transcript": "ENST00000679796.1",
"protein_id": "ENSP00000506659.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 770,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1766C>G",
"hgvs_p": "p.Thr589Arg",
"transcript": "NM_001390.5",
"protein_id": "NP_001381.2",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 743,
"cds_start": 1766,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1766C>G",
"hgvs_p": "p.Thr589Arg",
"transcript": "ENST00000399113.7",
"protein_id": "ENSP00000382064.3",
"transcript_support_level": 5,
"aa_start": 589,
"aa_end": null,
"aa_length": 743,
"cds_start": 1766,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1586C>G",
"hgvs_p": "p.Thr529Arg",
"transcript": "NM_001198938.2",
"protein_id": "NP_001185867.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 724,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1586C>G",
"hgvs_p": "p.Thr529Arg",
"transcript": "NM_001386753.1",
"protein_id": "NP_001373682.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 724,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1676C>G",
"hgvs_p": "p.Thr559Arg",
"transcript": "NM_001386754.1",
"protein_id": "NP_001373683.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 713,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 6581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1676C>G",
"hgvs_p": "p.Thr559Arg",
"transcript": "NM_001386755.1",
"protein_id": "NP_001373684.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 713,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1676C>G",
"hgvs_p": "p.Thr559Arg",
"transcript": "NM_001386756.1",
"protein_id": "NP_001373685.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 713,
"cds_start": 1676,
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"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1676C>G",
"hgvs_p": "p.Thr559Arg",
"transcript": "NM_001386757.1",
"protein_id": "NP_001373686.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 713,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1676C>G",
"hgvs_p": "p.Thr559Arg",
"transcript": "NM_001386758.1",
"protein_id": "NP_001373687.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 713,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1825,
"cdna_end": null,
"cdna_length": 6401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1676C>G",
"hgvs_p": "p.Thr559Arg",
"transcript": "NM_001386759.1",
"protein_id": "NP_001373688.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 713,
"cds_start": 1676,
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"cdna_start": 1825,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1676C>G",
"hgvs_p": "p.Thr559Arg",
"transcript": "ENST00000680822.1",
"protein_id": "ENSP00000505718.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 713,
"cds_start": 1676,
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"cdna_start": 1829,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1676C>G",
"hgvs_p": "p.Thr559Arg",
"transcript": "ENST00000684266.1",
"protein_id": "ENSP00000507106.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 713,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1673C>G",
"hgvs_p": "p.Thr558Arg",
"transcript": "NM_001386760.1",
"protein_id": "NP_001373689.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 712,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 4044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1607C>G",
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{
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}
],
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}