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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: 3-136329928-CCTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=136329928&ref=CCTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 136329928,
"ref": "CCTT",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001178014.2",
"consequences": [
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1527_1529delTTC",
"hgvs_p": "p.Ser510del",
"transcript": "NM_000532.5",
"protein_id": "NP_000523.2",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 539,
"cds_start": 1527,
"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": "SS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1527_1529delTTC",
"hgvs_p": "p.Ser510del",
"transcript": "ENST00000251654.9",
"protein_id": "ENSP00000251654.4",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 539,
"cds_start": 1527,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1527_1529delTTC",
"hgvs_p": "p.Ser510del",
"transcript": "ENST00000471595.5",
"protein_id": "ENSP00000417549.1",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 550,
"cds_start": 1527,
"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.885-4347_885-4345delTTC",
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1647_1649delTTC",
"hgvs_p": "p.Ser550del",
"transcript": "ENST00000878355.1",
"protein_id": "ENSP00000548414.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 579,
"cds_start": 1647,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1638_1640delTTC",
"hgvs_p": "p.Ser547del",
"transcript": "ENST00000878352.1",
"protein_id": "ENSP00000548411.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 576,
"cds_start": 1638,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1620_1622delTTC",
"hgvs_p": "p.Ser541del",
"transcript": "ENST00000468777.5",
"protein_id": "ENSP00000419129.1",
"transcript_support_level": 3,
"aa_start": 540,
"aa_end": null,
"aa_length": 570,
"cds_start": 1620,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1620_1622delTTC",
"hgvs_p": "p.Ser541del",
"transcript": "ENST00000878348.1",
"protein_id": "ENSP00000548407.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 570,
"cds_start": 1620,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1614_1616delTTC",
"hgvs_p": "p.Ser539del",
"transcript": "ENST00000878344.1",
"protein_id": "ENSP00000548403.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 568,
"cds_start": 1614,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1587_1589delTTC",
"hgvs_p": "p.Ser530del",
"transcript": "NM_001178014.2",
"protein_id": "NP_001171485.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 559,
"cds_start": 1587,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1587_1589delTTC",
"hgvs_p": "p.Ser530del",
"transcript": "ENST00000466072.5",
"protein_id": "ENSP00000420158.1",
"transcript_support_level": 3,
"aa_start": 529,
"aa_end": null,
"aa_length": 559,
"cds_start": 1587,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1587_1589delTTC",
"hgvs_p": "p.Ser530del",
"transcript": "ENST00000469217.5",
"protein_id": "ENSP00000419027.1",
"transcript_support_level": 2,
"aa_start": 529,
"aa_end": null,
"aa_length": 559,
"cds_start": 1587,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1521_1523delTTC",
"hgvs_p": "p.Ser508del",
"transcript": "ENST00000878354.1",
"protein_id": "ENSP00000548413.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 537,
"cds_start": 1521,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1521_1523delTTC",
"hgvs_p": "p.Ser508del",
"transcript": "ENST00000954230.1",
"protein_id": "ENSP00000624289.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 537,
"cds_start": 1521,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1470_1472delTTC",
"hgvs_p": "p.Ser491del",
"transcript": "ENST00000483687.5",
"protein_id": "ENSP00000420639.1",
"transcript_support_level": 3,
"aa_start": 490,
"aa_end": null,
"aa_length": 520,
"cds_start": 1470,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1467_1469delTTC",
"hgvs_p": "p.Ser490del",
"transcript": "ENST00000954231.1",
"protein_id": "ENSP00000624290.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 519,
"cds_start": 1467,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1458_1460delTTC",
"hgvs_p": "p.Ser487del",
"transcript": "ENST00000462637.5",
"protein_id": "ENSP00000420391.1",
"transcript_support_level": 3,
"aa_start": 486,
"aa_end": null,
"aa_length": 516,
"cds_start": 1458,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1419_1421delTTC",
"hgvs_p": "p.Ser474del",
"transcript": "ENST00000878345.1",
"protein_id": "ENSP00000548404.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 503,
"cds_start": 1419,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1416_1418delTTC",
"hgvs_p": "p.Ser473del",
"transcript": "ENST00000878353.1",
"protein_id": "ENSP00000548412.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 502,
"cds_start": 1416,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1413_1415delTTC",
"hgvs_p": "p.Ser472del",
"transcript": "ENST00000954229.1",
"protein_id": "ENSP00000624288.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 501,
"cds_start": 1413,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1407_1409delTTC",
"hgvs_p": "p.Ser470del",
"transcript": "ENST00000878349.1",
"protein_id": "ENSP00000548408.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 499,
"cds_start": 1407,
"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": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.1356_1358delTTC",
"hgvs_p": "p.Ser453del",
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{
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{
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],
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{
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},
{
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],
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000484181.5"
}
],
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"dbsnp": "rs1553785152",
"frequency_reference_population": 6.8405814e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84058e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.274,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001178014.2",
"gene_symbol": "PCCB",
"hgnc_id": 8654,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1587_1589delTTC",
"hgvs_p": "p.Ser530del"
}
],
"clinvar_disease": "Propionic acidemia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Propionic acidemia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}