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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: 19-48841258-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48841258&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48841258,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001438306.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1796G>C",
"hgvs_p": "p.Arg599Pro",
"transcript": "NM_020904.3",
"protein_id": "NP_065955.2",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 779,
"cds_start": 1796,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263265.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020904.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1796G>C",
"hgvs_p": "p.Arg599Pro",
"transcript": "ENST00000263265.11",
"protein_id": "ENSP00000263265.5",
"transcript_support_level": 1,
"aa_start": 599,
"aa_end": null,
"aa_length": 779,
"cds_start": 1796,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020904.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263265.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1669-3129G>C",
"hgvs_p": null,
"transcript": "ENST00000355496.9",
"protein_id": "ENSP00000347683.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": null,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355496.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1817G>C",
"hgvs_p": "p.Arg606Pro",
"transcript": "ENST00000882972.1",
"protein_id": "ENSP00000553031.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 786,
"cds_start": 1817,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882972.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1808G>C",
"hgvs_p": "p.Arg603Pro",
"transcript": "NM_001438306.1",
"protein_id": "NP_001425235.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 783,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438306.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1808G>C",
"hgvs_p": "p.Arg603Pro",
"transcript": "ENST00000882967.1",
"protein_id": "ENSP00000553026.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 783,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882967.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1796G>C",
"hgvs_p": "p.Arg599Pro",
"transcript": "ENST00000882976.1",
"protein_id": "ENSP00000553035.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 779,
"cds_start": 1796,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882976.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1793G>C",
"hgvs_p": "p.Arg598Pro",
"transcript": "ENST00000882977.1",
"protein_id": "ENSP00000553036.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 778,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882977.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1793G>C",
"hgvs_p": "p.Arg598Pro",
"transcript": "ENST00000956196.1",
"protein_id": "ENSP00000626255.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 778,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956196.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1742G>C",
"hgvs_p": "p.Arg581Pro",
"transcript": "ENST00000882973.1",
"protein_id": "ENSP00000553032.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 761,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882973.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1721G>C",
"hgvs_p": "p.Arg574Pro",
"transcript": "NM_001438307.1",
"protein_id": "NP_001425236.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 754,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438307.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1721G>C",
"hgvs_p": "p.Arg574Pro",
"transcript": "ENST00000882966.1",
"protein_id": "ENSP00000553025.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 754,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882966.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1721G>C",
"hgvs_p": "p.Arg574Pro",
"transcript": "ENST00000956197.1",
"protein_id": "ENSP00000626256.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 754,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956197.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1718G>C",
"hgvs_p": "p.Arg573Pro",
"transcript": "ENST00000882969.1",
"protein_id": "ENSP00000553028.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 753,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882969.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1700G>C",
"hgvs_p": "p.Arg567Pro",
"transcript": "ENST00000594100.2",
"protein_id": "ENSP00000471274.2",
"transcript_support_level": 3,
"aa_start": 567,
"aa_end": null,
"aa_length": 747,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594100.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1688G>C",
"hgvs_p": "p.Arg563Pro",
"transcript": "NM_001438308.1",
"protein_id": "NP_001425237.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 743,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438308.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1688G>C",
"hgvs_p": "p.Arg563Pro",
"transcript": "ENST00000882968.1",
"protein_id": "ENSP00000553027.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 743,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882968.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1685G>C",
"hgvs_p": "p.Arg562Pro",
"transcript": "ENST00000956195.1",
"protein_id": "ENSP00000626254.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 742,
"cds_start": 1685,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956195.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1622G>C",
"hgvs_p": "p.Arg541Pro",
"transcript": "ENST00000882980.1",
"protein_id": "ENSP00000553039.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 721,
"cds_start": 1622,
"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": "ENST00000882980.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1619G>C",
"hgvs_p": "p.Arg540Pro",
"transcript": "ENST00000882975.1",
"protein_id": "ENSP00000553034.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 720,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882975.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1613G>C",
"hgvs_p": "p.Arg538Pro",
"transcript": "ENST00000882978.1",
"protein_id": "ENSP00000553037.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 718,
"cds_start": 1613,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882978.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.1592G>C",
"hgvs_p": "p.Arg531Pro",
"transcript": "ENST00000882979.1",
"protein_id": "ENSP00000553038.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 711,
"cds_start": 1592,
"cds_end": null,
"cds_length": 2136,
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}