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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: 19-48837369-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48837369&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48837369,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001438306.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2260G>T",
"hgvs_p": "p.Ala754Ser",
"transcript": "NM_020904.3",
"protein_id": "NP_065955.2",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 779,
"cds_start": 2260,
"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": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2260G>T",
"hgvs_p": "p.Ala754Ser",
"transcript": "ENST00000263265.11",
"protein_id": "ENSP00000263265.5",
"transcript_support_level": 1,
"aa_start": 754,
"aa_end": null,
"aa_length": 779,
"cds_start": 2260,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.*212G>T",
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2281G>T",
"hgvs_p": "p.Ala761Ser",
"transcript": "ENST00000882972.1",
"protein_id": "ENSP00000553031.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 786,
"cds_start": 2281,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2272G>T",
"hgvs_p": "p.Ala758Ser",
"transcript": "NM_001438306.1",
"protein_id": "NP_001425235.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 783,
"cds_start": 2272,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2272G>T",
"hgvs_p": "p.Ala758Ser",
"transcript": "ENST00000882967.1",
"protein_id": "ENSP00000553026.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 783,
"cds_start": 2272,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2260G>T",
"hgvs_p": "p.Ala754Ser",
"transcript": "ENST00000882976.1",
"protein_id": "ENSP00000553035.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 779,
"cds_start": 2260,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2257G>T",
"hgvs_p": "p.Ala753Ser",
"transcript": "ENST00000882977.1",
"protein_id": "ENSP00000553036.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 778,
"cds_start": 2257,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2257G>T",
"hgvs_p": "p.Ala753Ser",
"transcript": "ENST00000956196.1",
"protein_id": "ENSP00000626255.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 778,
"cds_start": 2257,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2206G>T",
"hgvs_p": "p.Ala736Ser",
"transcript": "ENST00000882973.1",
"protein_id": "ENSP00000553032.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 761,
"cds_start": 2206,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2185G>T",
"hgvs_p": "p.Ala729Ser",
"transcript": "NM_001438307.1",
"protein_id": "NP_001425236.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 754,
"cds_start": 2185,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2185G>T",
"hgvs_p": "p.Ala729Ser",
"transcript": "ENST00000882966.1",
"protein_id": "ENSP00000553025.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 754,
"cds_start": 2185,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2185G>T",
"hgvs_p": "p.Ala729Ser",
"transcript": "ENST00000956197.1",
"protein_id": "ENSP00000626256.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 754,
"cds_start": 2185,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2182G>T",
"hgvs_p": "p.Ala728Ser",
"transcript": "ENST00000882969.1",
"protein_id": "ENSP00000553028.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 753,
"cds_start": 2182,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Ala722Ser",
"transcript": "ENST00000594100.2",
"protein_id": "ENSP00000471274.2",
"transcript_support_level": 3,
"aa_start": 722,
"aa_end": null,
"aa_length": 747,
"cds_start": 2164,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2152G>T",
"hgvs_p": "p.Ala718Ser",
"transcript": "NM_001438308.1",
"protein_id": "NP_001425237.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 743,
"cds_start": 2152,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2152G>T",
"hgvs_p": "p.Ala718Ser",
"transcript": "ENST00000882968.1",
"protein_id": "ENSP00000553027.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 743,
"cds_start": 2152,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2149G>T",
"hgvs_p": "p.Ala717Ser",
"transcript": "ENST00000956195.1",
"protein_id": "ENSP00000626254.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 742,
"cds_start": 2149,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2086G>T",
"hgvs_p": "p.Ala696Ser",
"transcript": "ENST00000882980.1",
"protein_id": "ENSP00000553039.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 721,
"cds_start": 2086,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2083G>T",
"hgvs_p": "p.Ala695Ser",
"transcript": "ENST00000882975.1",
"protein_id": "ENSP00000553034.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 720,
"cds_start": 2083,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2077G>T",
"hgvs_p": "p.Ala693Ser",
"transcript": "ENST00000882978.1",
"protein_id": "ENSP00000553037.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 718,
"cds_start": 2077,
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA4",
"gene_hgnc_id": 14339,
"hgvs_c": "c.2056G>T",
"hgvs_p": "p.Ala686Ser",
"transcript": "ENST00000882979.1",
"protein_id": "ENSP00000553038.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 711,
"cds_start": 2056,
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{
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],
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"phenotype_combined": "not specified",
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"custom_annotations": null
}
],
"message": null
}