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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: 18-34848346-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=34848346&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 34848346,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000444659.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1397G>C",
"hgvs_p": "p.Arg466Thr",
"transcript": "NM_001386795.1",
"protein_id": "NP_001373724.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 770,
"cds_start": 1397,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": "ENST00000444659.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1397G>C",
"hgvs_p": "p.Arg466Thr",
"transcript": "ENST00000444659.6",
"protein_id": "ENSP00000405819.2",
"transcript_support_level": 5,
"aa_start": 466,
"aa_end": null,
"aa_length": 770,
"cds_start": 1397,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 6572,
"mane_select": "NM_001386795.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1136G>C",
"hgvs_p": "p.Arg379Thr",
"transcript": "ENST00000598334.5",
"protein_id": "ENSP00000470152.1",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 724,
"cds_start": 1136,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1136G>C",
"hgvs_p": "p.Arg379Thr",
"transcript": "ENST00000399121.9",
"protein_id": "ENSP00000382072.5",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 690,
"cds_start": 1136,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 6490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1145G>C",
"hgvs_p": "p.Arg382Thr",
"transcript": "ENST00000598142.5",
"protein_id": "ENSP00000470716.1",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 686,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 2509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1136G>C",
"hgvs_p": "p.Arg379Thr",
"transcript": "ENST00000595022.5",
"protein_id": "ENSP00000473078.1",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 683,
"cds_start": 1136,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 6016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1307G>C",
"hgvs_p": "p.Arg436Thr",
"transcript": "ENST00000348997.9",
"protein_id": "ENSP00000336682.4",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 567,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"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": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1145G>C",
"hgvs_p": "p.Arg382Thr",
"transcript": "ENST00000598774.6",
"protein_id": "ENSP00000472031.1",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 513,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Arg87Thr",
"transcript": "ENST00000591182.5",
"protein_id": "ENSP00000467720.1",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 391,
"cds_start": 260,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Arg87Thr",
"transcript": "ENST00000601632.6",
"protein_id": "ENSP00000507080.1",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 218,
"cds_start": 260,
"cds_end": null,
"cds_length": 657,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.182G>C",
"hgvs_p": "p.Arg61Thr",
"transcript": "ENST00000597674.5",
"protein_id": "ENSP00000471783.1",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 192,
"cds_start": 182,
"cds_end": null,
"cds_length": 579,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.182G>C",
"hgvs_p": "p.Arg61Thr",
"transcript": "ENST00000599844.5",
"protein_id": "ENSP00000470934.1",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 162,
"cds_start": 182,
"cds_end": null,
"cds_length": 489,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1397G>C",
"hgvs_p": "p.Arg466Thr",
"transcript": "NM_001386788.1",
"protein_id": "NP_001373717.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 770,
"cds_start": 1397,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1397G>C",
"hgvs_p": "p.Arg466Thr",
"transcript": "ENST00000679796.1",
"protein_id": "ENSP00000506659.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 770,
"cds_start": 1397,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1316G>C",
"hgvs_p": "p.Arg439Thr",
"transcript": "NM_001390.5",
"protein_id": "NP_001381.2",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 743,
"cds_start": 1316,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1316G>C",
"hgvs_p": "p.Arg439Thr",
"transcript": "ENST00000399113.7",
"protein_id": "ENSP00000382064.3",
"transcript_support_level": 5,
"aa_start": 439,
"aa_end": null,
"aa_length": 743,
"cds_start": 1316,
"cds_end": null,
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"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1136G>C",
"hgvs_p": "p.Arg379Thr",
"transcript": "NM_001198938.2",
"protein_id": "NP_001185867.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 724,
"cds_start": 1136,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1136G>C",
"hgvs_p": "p.Arg379Thr",
"transcript": "NM_001386753.1",
"protein_id": "NP_001373682.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 724,
"cds_start": 1136,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1226G>C",
"hgvs_p": "p.Arg409Thr",
"transcript": "NM_001386754.1",
"protein_id": "NP_001373683.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 713,
"cds_start": 1226,
"cds_end": null,
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"cdna_start": 1555,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1226G>C",
"hgvs_p": "p.Arg409Thr",
"transcript": "NM_001386755.1",
"protein_id": "NP_001373684.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 713,
"cds_start": 1226,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1555,
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"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1226G>C",
"hgvs_p": "p.Arg409Thr",
"transcript": "NM_001386756.1",
"protein_id": "NP_001373685.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 713,
"cds_start": 1226,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1226G>C",
"hgvs_p": "p.Arg409Thr",
"transcript": "NM_001386757.1",
"protein_id": "NP_001373686.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 713,
"cds_start": 1226,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTNA",
"gene_hgnc_id": 3057,
"hgvs_c": "c.1226G>C",
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"phenotype_combined": "Left ventricular noncompaction 1|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
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}