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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: 3-136329943-G-GCCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=136329943&ref=G&alt=GCCC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 136329943,
"ref": "G",
"alt": "GCCC",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_001178014.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1538_1540dupCCC",
"hgvs_p": "p.Ala513_Arg514insPro",
"transcript": "NM_000532.5",
"protein_id": "NP_000523.2",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 539,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000251654.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000532.5"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1538_1540dupCCC",
"hgvs_p": "p.Ala513_Arg514insPro",
"transcript": "ENST00000251654.9",
"protein_id": "ENSP00000251654.4",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 539,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000532.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251654.9"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1538_1540dupCCC",
"hgvs_p": "p.Ala513_Arg514insPro",
"transcript": "ENST00000471595.5",
"protein_id": "ENSP00000417549.1",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 550,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471595.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.885-4336_885-4334dupCCC",
"hgvs_p": null,
"transcript": "ENST00000478469.5",
"protein_id": "ENSP00000420759.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478469.5"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1658_1660dupCCC",
"hgvs_p": "p.Ala553_Arg554insPro",
"transcript": "ENST00000878355.1",
"protein_id": "ENSP00000548414.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 579,
"cds_start": 1661,
"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": "ENST00000878355.1"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1649_1651dupCCC",
"hgvs_p": "p.Ala550_Arg551insPro",
"transcript": "ENST00000878352.1",
"protein_id": "ENSP00000548411.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 576,
"cds_start": 1652,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878352.1"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1631_1633dupCCC",
"hgvs_p": "p.Ala544_Arg545insPro",
"transcript": "ENST00000468777.5",
"protein_id": "ENSP00000419129.1",
"transcript_support_level": 3,
"aa_start": 545,
"aa_end": null,
"aa_length": 570,
"cds_start": 1634,
"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": "ENST00000468777.5"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1631_1633dupCCC",
"hgvs_p": "p.Ala544_Arg545insPro",
"transcript": "ENST00000878348.1",
"protein_id": "ENSP00000548407.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 570,
"cds_start": 1634,
"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": "ENST00000878348.1"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1625_1627dupCCC",
"hgvs_p": "p.Ala542_Arg543insPro",
"transcript": "ENST00000878344.1",
"protein_id": "ENSP00000548403.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 568,
"cds_start": 1628,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878344.1"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1598_1600dupCCC",
"hgvs_p": "p.Ala533_Arg534insPro",
"transcript": "NM_001178014.2",
"protein_id": "NP_001171485.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 559,
"cds_start": 1601,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178014.2"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1598_1600dupCCC",
"hgvs_p": "p.Ala533_Arg534insPro",
"transcript": "ENST00000466072.5",
"protein_id": "ENSP00000420158.1",
"transcript_support_level": 3,
"aa_start": 534,
"aa_end": null,
"aa_length": 559,
"cds_start": 1601,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466072.5"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1598_1600dupCCC",
"hgvs_p": "p.Ala533_Arg534insPro",
"transcript": "ENST00000469217.5",
"protein_id": "ENSP00000419027.1",
"transcript_support_level": 2,
"aa_start": 534,
"aa_end": null,
"aa_length": 559,
"cds_start": 1601,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469217.5"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1532_1534dupCCC",
"hgvs_p": "p.Ala511_Arg512insPro",
"transcript": "ENST00000878354.1",
"protein_id": "ENSP00000548413.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 537,
"cds_start": 1535,
"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": "ENST00000878354.1"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1532_1534dupCCC",
"hgvs_p": "p.Ala511_Arg512insPro",
"transcript": "ENST00000954230.1",
"protein_id": "ENSP00000624289.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 537,
"cds_start": 1535,
"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": "ENST00000954230.1"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1481_1483dupCCC",
"hgvs_p": "p.Ala494_Arg495insPro",
"transcript": "ENST00000483687.5",
"protein_id": "ENSP00000420639.1",
"transcript_support_level": 3,
"aa_start": 495,
"aa_end": null,
"aa_length": 520,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483687.5"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1478_1480dupCCC",
"hgvs_p": "p.Ala493_Arg494insPro",
"transcript": "ENST00000954231.1",
"protein_id": "ENSP00000624290.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 519,
"cds_start": 1481,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954231.1"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1469_1471dupCCC",
"hgvs_p": "p.Ala490_Arg491insPro",
"transcript": "ENST00000462637.5",
"protein_id": "ENSP00000420391.1",
"transcript_support_level": 3,
"aa_start": 491,
"aa_end": null,
"aa_length": 516,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462637.5"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1430_1432dupCCC",
"hgvs_p": "p.Ala477_Arg478insPro",
"transcript": "ENST00000878345.1",
"protein_id": "ENSP00000548404.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 503,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878345.1"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1427_1429dupCCC",
"hgvs_p": "p.Ala476_Arg477insPro",
"transcript": "ENST00000878353.1",
"protein_id": "ENSP00000548412.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 502,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878353.1"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1424_1426dupCCC",
"hgvs_p": "p.Ala475_Arg476insPro",
"transcript": "ENST00000954229.1",
"protein_id": "ENSP00000624288.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 501,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954229.1"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1418_1420dupCCC",
"hgvs_p": "p.Ala473_Arg474insPro",
"transcript": "ENST00000878349.1",
"protein_id": "ENSP00000548408.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 499,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878349.1"
},
{
"aa_ref": "R",
"aa_alt": "PR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "PCCB",
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],
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{
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"PM2",
"PM4_Supporting",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1 O:1",
"phenotype_combined": "Propionic acidemia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}