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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: 3-136262024-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=136262024&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 136262024,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001178014.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "NM_000532.5",
"protein_id": "NP_000523.2",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 539,
"cds_start": 502,
"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": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "ENST00000251654.9",
"protein_id": "ENSP00000251654.4",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 539,
"cds_start": 502,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "ENST00000471595.5",
"protein_id": "ENSP00000417549.1",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 550,
"cds_start": 502,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "ENST00000478469.5",
"protein_id": "ENSP00000420759.1",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 303,
"cds_start": 502,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Glu188Lys",
"transcript": "ENST00000878355.1",
"protein_id": "ENSP00000548414.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 579,
"cds_start": 562,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Glu205Lys",
"transcript": "ENST00000878352.1",
"protein_id": "ENSP00000548411.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 576,
"cds_start": 613,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Glu199Lys",
"transcript": "ENST00000468777.5",
"protein_id": "ENSP00000419129.1",
"transcript_support_level": 3,
"aa_start": 199,
"aa_end": null,
"aa_length": 570,
"cds_start": 595,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "ENST00000878348.1",
"protein_id": "ENSP00000548407.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 570,
"cds_start": 502,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "ENST00000878344.1",
"protein_id": "ENSP00000548403.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 568,
"cds_start": 502,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Glu188Lys",
"transcript": "NM_001178014.2",
"protein_id": "NP_001171485.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 559,
"cds_start": 562,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "ENST00000466072.5",
"protein_id": "ENSP00000420158.1",
"transcript_support_level": 3,
"aa_start": 168,
"aa_end": null,
"aa_length": 559,
"cds_start": 502,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Glu188Lys",
"transcript": "ENST00000469217.5",
"protein_id": "ENSP00000419027.1",
"transcript_support_level": 2,
"aa_start": 188,
"aa_end": null,
"aa_length": 559,
"cds_start": 562,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "ENST00000878354.1",
"protein_id": "ENSP00000548413.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 537,
"cds_start": 502,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "ENST00000954230.1",
"protein_id": "ENSP00000624289.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 537,
"cds_start": 502,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Glu149Lys",
"transcript": "ENST00000483687.5",
"protein_id": "ENSP00000420639.1",
"transcript_support_level": 3,
"aa_start": 149,
"aa_end": null,
"aa_length": 520,
"cds_start": 445,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Glu128Lys",
"transcript": "ENST00000954231.1",
"protein_id": "ENSP00000624290.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 519,
"cds_start": 382,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Glu145Lys",
"transcript": "ENST00000462637.5",
"protein_id": "ENSP00000420391.1",
"transcript_support_level": 3,
"aa_start": 145,
"aa_end": null,
"aa_length": 516,
"cds_start": 433,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "ENST00000878345.1",
"protein_id": "ENSP00000548404.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 503,
"cds_start": 502,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "ENST00000878353.1",
"protein_id": "ENSP00000548412.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 502,
"cds_start": 502,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Glu128Lys",
"transcript": "ENST00000878349.1",
"protein_id": "ENSP00000548408.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 499,
"cds_start": 382,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "ENST00000878346.1",
"protein_id": "ENSP00000548405.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 476,
"cds_start": 313,
"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": "ENST00000878346.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCB",
"gene_hgnc_id": 8654,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "ENST00000878351.1",
"protein_id": "ENSP00000548410.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 430,
"cds_start": 502,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878351.1"
},
{
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}
],
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}