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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: 4-527184-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=527184&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 527184,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000453061.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.2215G>A",
"hgvs_p": "p.Gly739Arg",
"transcript": "NM_001127178.3",
"protein_id": "NP_001120650.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 983,
"cds_start": 2215,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 2341,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": "ENST00000453061.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.2215G>A",
"hgvs_p": "p.Gly739Arg",
"transcript": "ENST00000453061.7",
"protein_id": "ENSP00000415203.2",
"transcript_support_level": 1,
"aa_start": 739,
"aa_end": null,
"aa_length": 983,
"cds_start": 2215,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 2341,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": "NM_001127178.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1816G>A",
"hgvs_p": "p.Gly606Arg",
"transcript": "ENST00000383028.8",
"protein_id": "ENSP00000372494.4",
"transcript_support_level": 1,
"aa_start": 606,
"aa_end": null,
"aa_length": 850,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.2191G>A",
"hgvs_p": "p.Gly731Arg",
"transcript": "NM_017733.5",
"protein_id": "NP_060203.3",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 975,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.2191G>A",
"hgvs_p": "p.Gly731Arg",
"transcript": "ENST00000310340.9",
"protein_id": "ENSP00000311750.5",
"transcript_support_level": 2,
"aa_start": 731,
"aa_end": null,
"aa_length": 975,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Gly650Arg",
"transcript": "NM_001289051.2",
"protein_id": "NP_001275980.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 894,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Gly650Arg",
"transcript": "NM_001345986.2",
"protein_id": "NP_001332915.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 894,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2577,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Gly650Arg",
"transcript": "ENST00000504346.5",
"protein_id": "ENSP00000424800.1",
"transcript_support_level": 2,
"aa_start": 650,
"aa_end": null,
"aa_length": 894,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2123,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Gly642Arg",
"transcript": "NM_001345987.2",
"protein_id": "NP_001332916.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 886,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2553,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1816G>A",
"hgvs_p": "p.Gly606Arg",
"transcript": "NM_001289052.2",
"protein_id": "NP_001275981.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 850,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Gly396Arg",
"transcript": "NM_001345988.2",
"protein_id": "NP_001332917.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 640,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 2435,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Gly373Arg",
"transcript": "NM_001345994.2",
"protein_id": "NP_001332923.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 617,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 2691,
"cdna_end": null,
"cdna_length": 4259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Gly228Arg",
"transcript": "NM_001345990.2",
"protein_id": "NP_001332919.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 472,
"cds_start": 682,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Gly228Arg",
"transcript": "NM_001345991.2",
"protein_id": "NP_001332920.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 472,
"cds_start": 682,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 2531,
"cdna_end": null,
"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.2215G>A",
"hgvs_p": "p.Gly739Arg",
"transcript": "XM_011513490.4",
"protein_id": "XP_011511792.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 930,
"cds_start": 2215,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2341,
"cdna_end": null,
"cdna_length": 5655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1849G>A",
"hgvs_p": "p.Gly617Arg",
"transcript": "XM_047415846.1",
"protein_id": "XP_047271802.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 861,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 3495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1924G>A",
"hgvs_p": "p.Gly642Arg",
"transcript": "XM_047415848.1",
"protein_id": "XP_047271804.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 657,
"cds_start": 1924,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1141G>A",
"hgvs_p": "p.Gly381Arg",
"transcript": "XM_011513492.2",
"protein_id": "XP_011511794.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 625,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Gly298Arg",
"transcript": "XM_047415852.1",
"protein_id": "XP_047271808.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 542,
"cds_start": 892,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 2538,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "n.416G>A",
"hgvs_p": null,
"transcript": "ENST00000503261.5",
"protein_id": null,
"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": 626,
"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": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "n.228G>A",
"hgvs_p": null,
"transcript": "ENST00000508669.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 584,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "n.235G>A",
"hgvs_p": null,
"transcript": "ENST00000511666.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 658,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "n.2295G>A",
"hgvs_p": null,
"transcript": "NR_110293.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Intellectual disability, autosomal recessive 53|not provided",
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}
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"message": null
}