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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: 20-53953659-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=53953659&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 53953659,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001366298.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1588G>C",
"hgvs_p": "p.Glu530Gln",
"transcript": "NM_001366298.2",
"protein_id": "NP_001353227.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 629,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000688948.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366298.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1588G>C",
"hgvs_p": "p.Glu530Gln",
"transcript": "ENST00000688948.1",
"protein_id": "ENSP00000508731.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 629,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366298.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688948.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1453G>C",
"hgvs_p": "p.Glu485Gln",
"transcript": "ENST00000395961.7",
"protein_id": "ENSP00000379290.3",
"transcript_support_level": 1,
"aa_start": 485,
"aa_end": null,
"aa_length": 584,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395961.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1219G>C",
"hgvs_p": "p.Glu407Gln",
"transcript": "ENST00000371435.6",
"protein_id": "ENSP00000360490.2",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 506,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371435.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1576G>C",
"hgvs_p": "p.Glu526Gln",
"transcript": "ENST00000960232.1",
"protein_id": "ENSP00000630291.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 625,
"cds_start": 1576,
"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": "ENST00000960232.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1453G>C",
"hgvs_p": "p.Glu485Gln",
"transcript": "NM_003657.4",
"protein_id": "NP_003648.2",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 584,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003657.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1453G>C",
"hgvs_p": "p.Glu485Gln",
"transcript": "ENST00000879784.1",
"protein_id": "ENSP00000549843.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 584,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879784.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1453G>C",
"hgvs_p": "p.Glu485Gln",
"transcript": "ENST00000960234.1",
"protein_id": "ENSP00000630293.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 584,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960234.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "NM_001366295.2",
"protein_id": "NP_001353224.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 570,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366295.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "ENST00000879787.1",
"protein_id": "ENSP00000549846.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 570,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879787.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1387G>C",
"hgvs_p": "p.Glu463Gln",
"transcript": "NM_001366296.2",
"protein_id": "NP_001353225.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 562,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366296.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1387G>C",
"hgvs_p": "p.Glu463Gln",
"transcript": "ENST00000879786.1",
"protein_id": "ENSP00000549845.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 562,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879786.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1387G>C",
"hgvs_p": "p.Glu463Gln",
"transcript": "ENST00000960235.1",
"protein_id": "ENSP00000630294.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 562,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960235.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1312G>C",
"hgvs_p": "p.Glu438Gln",
"transcript": "ENST00000686565.1",
"protein_id": "ENSP00000509740.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 537,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686565.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1243G>C",
"hgvs_p": "p.Glu415Gln",
"transcript": "ENST00000879785.1",
"protein_id": "ENSP00000549844.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 514,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879785.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1219G>C",
"hgvs_p": "p.Glu407Gln",
"transcript": "NM_001316361.3",
"protein_id": "NP_001303290.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 506,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316361.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1219G>C",
"hgvs_p": "p.Glu407Gln",
"transcript": "NM_001323347.2",
"protein_id": "NP_001310276.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 506,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323347.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1186G>C",
"hgvs_p": "p.Glu396Gln",
"transcript": "ENST00000685429.1",
"protein_id": "ENSP00000510480.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 495,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685429.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1177G>C",
"hgvs_p": "p.Glu393Gln",
"transcript": "NM_001366297.2",
"protein_id": "NP_001353226.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 492,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366297.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1066G>C",
"hgvs_p": "p.Glu356Gln",
"transcript": "ENST00000448484.5",
"protein_id": "ENSP00000396361.1",
"transcript_support_level": 5,
"aa_start": 356,
"aa_end": null,
"aa_length": 476,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448484.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1081G>C",
"hgvs_p": "p.Glu361Gln",
"transcript": "ENST00000960236.1",
"protein_id": "ENSP00000630295.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 460,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960236.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS1",
"gene_hgnc_id": 974,
"hgvs_c": "c.1030G>C",
"hgvs_p": "p.Glu344Gln",
"transcript": "ENST00000960233.1",
"protein_id": "ENSP00000630292.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 443,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}