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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-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45771796&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45771796,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001424163.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg493Cys",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000291270.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004409.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg493Cys",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004409.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291270.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg493Cys",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343373.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg488Cys",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447742.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg519Cys",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424163.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg519Cys",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288764.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.1510C>T",
"hgvs_p": "p.Arg504Cys",
"transcript": "ENST00000902152.1",
"protein_id": "ENSP00000572211.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 640,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902152.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg503Cys",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081563.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg493Cys",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424162.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.1471C>T",
"hgvs_p": "p.Arg491Cys",
"transcript": "ENST00000902147.1",
"protein_id": "ENSP00000572206.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 627,
"cds_start": 1471,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902147.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg488Cys",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081562.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg488Cys",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458663.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg488Cys",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081560.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.1456C>T",
"hgvs_p": "p.Arg486Cys",
"transcript": "ENST00000947414.1",
"protein_id": "ENSP00000617473.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 622,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947414.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg493Cys",
"transcript": "ENST00000902150.1",
"protein_id": "ENSP00000572209.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 612,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902150.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg488Cys",
"transcript": "ENST00000902149.1",
"protein_id": "ENSP00000572208.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 607,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902149.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg493Cys",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424165.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg493Cys",
"transcript": "ENST00000902146.1",
"protein_id": "ENSP00000572205.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 599,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902146.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg488Cys",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424169.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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>T",
"hgvs_p": "p.Arg488Cys",
"transcript": "ENST00000902145.1",
"protein_id": "ENSP00000572204.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 594,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902145.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.1327C>T",
"hgvs_p": "p.Arg443Cys",
"transcript": "ENST00000902148.1",
"protein_id": "ENSP00000572207.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 579,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902148.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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.1312C>T",
"hgvs_p": "p.Arg438Cys",
"transcript": "ENST00000902151.1",
"protein_id": "ENSP00000572210.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 574,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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],
"gene_symbol": "DMPK",
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"dbsnp": "rs78771765",
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"hom_count_reference_population": 2,
"allele_count_reference_population": 1722,
"gnomad_exomes_af": 0.00113457,
"gnomad_genomes_af": 0.000748395,
"gnomad_exomes_ac": 1608,
"gnomad_genomes_ac": 114,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02815231680870056,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.407,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1049,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.051,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001424163.1",
"gene_symbol": "DMPK",
"hgnc_id": 2933,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Arg519Cys"
},
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2_Supporting"
],
"verdict": "Benign",
"transcript": "ENST00000590076.3",
"gene_symbol": "DM1-AS",
"hgnc_id": 53125,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.643G>A",
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}
],
"clinvar_disease": "DMPK-related disorder,Myotonic dystrophy,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Myotonic dystrophy|not provided|DMPK-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}