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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: 4-523724-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=523724&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 523724,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001127178.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1880G>A",
"hgvs_p": "p.Gly627Asp",
"transcript": "NM_001127178.3",
"protein_id": "NP_001120650.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 983,
"cds_start": 1880,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": "ENST00000453061.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127178.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1880G>A",
"hgvs_p": "p.Gly627Asp",
"transcript": "ENST00000453061.7",
"protein_id": "ENSP00000415203.2",
"transcript_support_level": 1,
"aa_start": 627,
"aa_end": null,
"aa_length": 983,
"cds_start": 1880,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": "NM_001127178.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453061.7"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Gly494Asp",
"transcript": "ENST00000383028.8",
"protein_id": "ENSP00000372494.4",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 850,
"cds_start": 1481,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383028.8"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1856G>A",
"hgvs_p": "p.Gly619Asp",
"transcript": "NM_017733.5",
"protein_id": "NP_060203.3",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 975,
"cds_start": 1856,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017733.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1856G>A",
"hgvs_p": "p.Gly619Asp",
"transcript": "ENST00000310340.9",
"protein_id": "ENSP00000311750.5",
"transcript_support_level": 2,
"aa_start": 619,
"aa_end": null,
"aa_length": 975,
"cds_start": 1856,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310340.9"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Asp",
"transcript": "ENST00000868086.1",
"protein_id": "ENSP00000538145.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 913,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 2947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868086.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Gly556Asp",
"transcript": "ENST00000868087.1",
"protein_id": "ENSP00000538146.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 912,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868087.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1613G>A",
"hgvs_p": "p.Gly538Asp",
"transcript": "NM_001289051.2",
"protein_id": "NP_001275980.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 894,
"cds_start": 1613,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 3718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289051.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1613G>A",
"hgvs_p": "p.Gly538Asp",
"transcript": "NM_001345986.2",
"protein_id": "NP_001332915.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 894,
"cds_start": 1613,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345986.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1613G>A",
"hgvs_p": "p.Gly538Asp",
"transcript": "ENST00000504346.5",
"protein_id": "ENSP00000424800.1",
"transcript_support_level": 2,
"aa_start": 538,
"aa_end": null,
"aa_length": 894,
"cds_start": 1613,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 1788,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504346.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"transcript": "NM_001345987.2",
"protein_id": "NP_001332916.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 886,
"cds_start": 1589,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2218,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345987.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1481G>A",
"hgvs_p": "p.Gly494Asp",
"transcript": "NM_001289052.2",
"protein_id": "NP_001275981.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 850,
"cds_start": 1481,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289052.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.851G>A",
"hgvs_p": "p.Gly284Asp",
"transcript": "NM_001345988.2",
"protein_id": "NP_001332917.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 640,
"cds_start": 851,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 2100,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345988.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.782G>A",
"hgvs_p": "p.Gly261Asp",
"transcript": "NM_001345994.2",
"protein_id": "NP_001332923.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 617,
"cds_start": 782,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 2356,
"cdna_end": null,
"cdna_length": 4259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345994.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "NM_001345990.2",
"protein_id": "NP_001332919.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 472,
"cds_start": 347,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345990.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "NM_001345991.2",
"protein_id": "NP_001332920.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 472,
"cds_start": 347,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 2196,
"cdna_end": null,
"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345991.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1880G>A",
"hgvs_p": "p.Gly627Asp",
"transcript": "XM_011513490.4",
"protein_id": "XP_011511792.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 930,
"cds_start": 1880,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 5655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513490.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Gly505Asp",
"transcript": "XM_047415846.1",
"protein_id": "XP_047271802.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 861,
"cds_start": 1514,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 3495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415846.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1880G>A",
"hgvs_p": "p.Gly627Asp",
"transcript": "XM_047415847.1",
"protein_id": "XP_047271803.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 701,
"cds_start": 1880,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 2829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415847.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Asp",
"transcript": "XM_047415848.1",
"protein_id": "XP_047271804.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 657,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415848.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.806G>A",
"hgvs_p": "p.Gly269Asp",
"transcript": "XM_011513492.2",
"protein_id": "XP_011511794.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 625,
"cds_start": 806,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513492.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGG",
"gene_hgnc_id": 25985,
"hgvs_c": "c.557G>A",
"hgvs_p": "p.Gly186Asp",
"transcript": "XM_047415852.1",
"protein_id": "XP_047271808.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 542,
"cds_start": 557,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 635,
"cdna_end": null,
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Intellectual disability, autosomal recessive 53|not provided|Inborn genetic diseases",
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"custom_annotations": null
}
],
"message": null
}