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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: 18-49044159-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=49044159&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 49044159,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001353214.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Glu691Lys",
"transcript": "NM_001353214.3",
"protein_id": "NP_001340143.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 724,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000675505.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353214.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Glu691Lys",
"transcript": "ENST00000675505.1",
"protein_id": "ENSP00000501694.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 724,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001353214.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675505.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1906G>A",
"hgvs_p": "p.Glu636Lys",
"transcript": "ENST00000269445.10",
"protein_id": "ENSP00000269445.6",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 669,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269445.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Glu691Lys",
"transcript": "NM_001374428.1",
"protein_id": "NP_001361357.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 724,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374428.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Glu690Lys",
"transcript": "NM_001353212.3",
"protein_id": "NP_001340141.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 723,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353212.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2068G>A",
"hgvs_p": "p.Glu690Lys",
"transcript": "NM_001353213.3",
"protein_id": "NP_001340142.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 723,
"cds_start": 2068,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353213.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.2065G>A",
"hgvs_p": "p.Glu689Lys",
"transcript": "NM_001374429.1",
"protein_id": "NP_001361358.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 722,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374429.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1957G>A",
"hgvs_p": "p.Glu653Lys",
"transcript": "NM_001374431.1",
"protein_id": "NP_001361360.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 686,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374431.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1945G>A",
"hgvs_p": "p.Glu649Lys",
"transcript": "NM_001374432.1",
"protein_id": "NP_001361361.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 682,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374432.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1906G>A",
"hgvs_p": "p.Glu636Lys",
"transcript": "NM_017653.6",
"protein_id": "NP_060123.3",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 669,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017653.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1906G>A",
"hgvs_p": "p.Glu636Lys",
"transcript": "ENST00000919568.1",
"protein_id": "ENSP00000589627.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 669,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919568.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1906G>A",
"hgvs_p": "p.Glu636Lys",
"transcript": "ENST00000919569.1",
"protein_id": "ENSP00000589628.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 669,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919569.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1903G>A",
"hgvs_p": "p.Glu635Lys",
"transcript": "NM_001353210.3",
"protein_id": "NP_001340139.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 668,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353210.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1903G>A",
"hgvs_p": "p.Glu635Lys",
"transcript": "NM_001353211.3",
"protein_id": "NP_001340140.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 668,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353211.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1888G>A",
"hgvs_p": "p.Glu630Lys",
"transcript": "NM_001353215.3",
"protein_id": "NP_001340144.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 663,
"cds_start": 1888,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353215.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1792G>A",
"hgvs_p": "p.Glu598Lys",
"transcript": "NM_001374434.1",
"protein_id": "NP_001361363.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 631,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374434.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Glu597Lys",
"transcript": "NM_001374435.1",
"protein_id": "NP_001361364.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 630,
"cds_start": 1789,
"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_001374435.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1780G>A",
"hgvs_p": "p.Glu594Lys",
"transcript": "NM_001374436.1",
"protein_id": "NP_001361365.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 627,
"cds_start": 1780,
"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": "NM_001374436.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1759G>A",
"hgvs_p": "p.Glu587Lys",
"transcript": "ENST00000889574.1",
"protein_id": "ENSP00000559633.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 620,
"cds_start": 1759,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889574.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1723G>A",
"hgvs_p": "p.Glu575Lys",
"transcript": "NM_001353216.3",
"protein_id": "NP_001340145.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 608,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353216.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1723G>A",
"hgvs_p": "p.Glu575Lys",
"transcript": "NM_001374437.1",
"protein_id": "NP_001361366.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 608,
"cds_start": 1723,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374437.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1720G>A",
"hgvs_p": "p.Glu574Lys",
"transcript": "NM_001374438.1",
"protein_id": "NP_001361367.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 607,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
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}