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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: 19-45771796-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45771796&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45771796,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000291270.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1477C>G",
"hgvs_p": "p.Arg493Gly",
"transcript": "NM_004409.5",
"protein_id": "NP_004400.4",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 629,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": "ENST00000291270.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1477C>G",
"hgvs_p": "p.Arg493Gly",
"transcript": "ENST00000291270.9",
"protein_id": "ENSP00000291270.4",
"transcript_support_level": 5,
"aa_start": 493,
"aa_end": null,
"aa_length": 629,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": "NM_004409.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1477C>G",
"hgvs_p": "p.Arg493Gly",
"transcript": "ENST00000343373.10",
"protein_id": "ENSP00000345997.4",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 630,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1462C>G",
"hgvs_p": "p.Arg488Gly",
"transcript": "ENST00000447742.6",
"protein_id": "ENSP00000413417.1",
"transcript_support_level": 1,
"aa_start": 488,
"aa_end": null,
"aa_length": 624,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1555C>G",
"hgvs_p": "p.Arg519Gly",
"transcript": "NM_001424163.1",
"protein_id": "NP_001411092.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 656,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1555C>G",
"hgvs_p": "p.Arg519Gly",
"transcript": "NM_001288764.2",
"protein_id": "NP_001275693.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 655,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1507C>G",
"hgvs_p": "p.Arg503Gly",
"transcript": "NM_001081563.3",
"protein_id": "NP_001075032.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 639,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 3938,
"cdna_end": null,
"cdna_length": 5122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1477C>G",
"hgvs_p": "p.Arg493Gly",
"transcript": "NM_001424162.1",
"protein_id": "NP_001411091.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 630,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 2795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1462C>G",
"hgvs_p": "p.Arg488Gly",
"transcript": "NM_001081562.3",
"protein_id": "NP_001075031.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 625,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1462C>G",
"hgvs_p": "p.Arg488Gly",
"transcript": "ENST00000458663.6",
"protein_id": "ENSP00000401753.1",
"transcript_support_level": 5,
"aa_start": 488,
"aa_end": null,
"aa_length": 625,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1462C>G",
"hgvs_p": "p.Arg488Gly",
"transcript": "NM_001081560.3",
"protein_id": "NP_001075029.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 624,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1477C>G",
"hgvs_p": "p.Arg493Gly",
"transcript": "NM_001424165.1",
"protein_id": "NP_001411094.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 599,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 2709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1462C>G",
"hgvs_p": "p.Arg488Gly",
"transcript": "NM_001424169.1",
"protein_id": "NP_001411098.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 594,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1477C>G",
"hgvs_p": "p.Arg493Gly",
"transcript": "NM_001424168.1",
"protein_id": "NP_001411097.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 565,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1210C>G",
"hgvs_p": "p.Arg404Gly",
"transcript": "NM_001288765.2",
"protein_id": "NP_001275694.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 541,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1477C>G",
"hgvs_p": "p.Arg493Gly",
"transcript": "NM_001424164.1",
"protein_id": "NP_001411093.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 535,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1477C>G",
"hgvs_p": "p.Arg493Gly",
"transcript": "ENST00000683086.1",
"protein_id": "ENSP00000508381.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 535,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1462C>G",
"hgvs_p": "p.Arg488Gly",
"transcript": "NM_001288766.2",
"protein_id": "NP_001275695.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 530,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1462C>G",
"hgvs_p": "p.Arg488Gly",
"transcript": "ENST00000354227.9",
"protein_id": "ENSP00000346168.5",
"transcript_support_level": 2,
"aa_start": 488,
"aa_end": null,
"aa_length": 530,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1036C>G",
"hgvs_p": "p.Arg346Gly",
"transcript": "NM_001424166.1",
"protein_id": "NP_001411095.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 483,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.205C>G",
"hgvs_p": "p.Arg69Gly",
"transcript": "ENST00000597660.1",
"protein_id": "ENSP00000471832.1",
"transcript_support_level": 3,
"aa_start": 69,
"aa_end": null,
"aa_length": 188,
"cds_start": 205,
"cds_end": null,
"cds_length": 567,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "n.*1299C>G",
"hgvs_p": null,
"transcript": "ENST00000588522.5",
"protein_id": "ENSP00000468013.1",
"transcript_support_level": 5,
"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": 2920,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DM1-AS",
"gene_hgnc_id": 53125,
"hgvs_c": "n.643G>C",
"hgvs_p": null,
"transcript": "ENST00000590076.3",
"protein_id": null,
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