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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: 3-49682366-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49682366&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49682366,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001640.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1622C>A",
"hgvs_p": "p.Thr541Lys",
"transcript": "NM_001640.4",
"protein_id": "NP_001631.3",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 732,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296456.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001640.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1622C>A",
"hgvs_p": "p.Thr541Lys",
"transcript": "ENST00000296456.10",
"protein_id": "ENSP00000296456.5",
"transcript_support_level": 1,
"aa_start": 541,
"aa_end": null,
"aa_length": 732,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001640.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296456.10"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1622C>A",
"hgvs_p": "p.Thr541Lys",
"transcript": "ENST00000438011.5",
"protein_id": "ENSP00000415862.1",
"transcript_support_level": 1,
"aa_start": 541,
"aa_end": null,
"aa_length": 737,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438011.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1703C>A",
"hgvs_p": "p.Thr568Lys",
"transcript": "ENST00000863169.1",
"protein_id": "ENSP00000533228.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 759,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863169.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1646C>A",
"hgvs_p": "p.Thr549Lys",
"transcript": "ENST00000863165.1",
"protein_id": "ENSP00000533224.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 740,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863165.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1613C>A",
"hgvs_p": "p.Thr538Lys",
"transcript": "ENST00000863163.1",
"protein_id": "ENSP00000533222.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 729,
"cds_start": 1613,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863163.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1613C>A",
"hgvs_p": "p.Thr538Lys",
"transcript": "ENST00000863172.1",
"protein_id": "ENSP00000533231.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 729,
"cds_start": 1613,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863172.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1622C>A",
"hgvs_p": "p.Thr541Lys",
"transcript": "ENST00000863166.1",
"protein_id": "ENSP00000533225.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 725,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863166.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1613C>A",
"hgvs_p": "p.Thr538Lys",
"transcript": "ENST00000959864.1",
"protein_id": "ENSP00000629923.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 722,
"cds_start": 1613,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959864.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1589C>A",
"hgvs_p": "p.Thr530Lys",
"transcript": "ENST00000863164.1",
"protein_id": "ENSP00000533223.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 721,
"cds_start": 1589,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863164.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1577C>A",
"hgvs_p": "p.Thr526Lys",
"transcript": "ENST00000925195.1",
"protein_id": "ENSP00000595254.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 717,
"cds_start": 1577,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925195.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1565C>A",
"hgvs_p": "p.Thr522Lys",
"transcript": "ENST00000863160.1",
"protein_id": "ENSP00000533219.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 713,
"cds_start": 1565,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863160.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1577C>A",
"hgvs_p": "p.Thr526Lys",
"transcript": "ENST00000863171.1",
"protein_id": "ENSP00000533230.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 710,
"cds_start": 1577,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863171.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1541C>A",
"hgvs_p": "p.Thr514Lys",
"transcript": "ENST00000863170.1",
"protein_id": "ENSP00000533229.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 705,
"cds_start": 1541,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863170.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1538C>A",
"hgvs_p": "p.Thr513Lys",
"transcript": "ENST00000863161.1",
"protein_id": "ENSP00000533220.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 704,
"cds_start": 1538,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863161.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1529C>A",
"hgvs_p": "p.Thr510Lys",
"transcript": "ENST00000863158.1",
"protein_id": "ENSP00000533217.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 701,
"cds_start": 1529,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863158.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1622C>A",
"hgvs_p": "p.Thr541Lys",
"transcript": "ENST00000863162.1",
"protein_id": "ENSP00000533221.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 697,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863162.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1508C>A",
"hgvs_p": "p.Thr503Lys",
"transcript": "ENST00000925196.1",
"protein_id": "ENSP00000595255.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 694,
"cds_start": 1508,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925196.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1484C>A",
"hgvs_p": "p.Thr495Lys",
"transcript": "ENST00000863167.1",
"protein_id": "ENSP00000533226.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 691,
"cds_start": 1484,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863167.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1487C>A",
"hgvs_p": "p.Thr496Lys",
"transcript": "ENST00000959868.1",
"protein_id": "ENSP00000629927.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 687,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959868.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1484C>A",
"hgvs_p": "p.Thr495Lys",
"transcript": "ENST00000863157.1",
"protein_id": "ENSP00000533216.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 686,
"cds_start": 1484,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863157.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEH",
"gene_hgnc_id": 586,
"hgvs_c": "c.1484C>A",
"hgvs_p": "p.Thr495Lys",
"transcript": "ENST00000959866.1",
"protein_id": "ENSP00000629925.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 679,
"cds_start": 1484,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}