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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: 2-134981407-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=134981407&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 134981407,
"ref": "C",
"alt": "A",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "NM_001018047.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3334G>T",
"hgvs_p": "p.Val1112Leu",
"transcript": "NM_025052.5",
"protein_id": "NP_079328.3",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392915.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025052.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3334G>T",
"hgvs_p": "p.Val1112Leu",
"transcript": "ENST00000392915.7",
"protein_id": "ENSP00000376647.2",
"transcript_support_level": 5,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025052.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392915.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3334G>T",
"hgvs_p": "p.Val1112Leu",
"transcript": "ENST00000375845.8",
"protein_id": "ENSP00000365005.3",
"transcript_support_level": 1,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375845.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.2995G>T",
"hgvs_p": "p.Val999Leu",
"transcript": "ENST00000358371.9",
"protein_id": "ENSP00000351140.4",
"transcript_support_level": 1,
"aa_start": 999,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358371.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Val294Leu",
"transcript": "ENST00000375844.7",
"protein_id": "ENSP00000365004.3",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 510,
"cds_start": 880,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375844.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Val244Leu",
"transcript": "ENST00000392917.8",
"protein_id": "ENSP00000376649.3",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 460,
"cds_start": 730,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392917.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.737-1G>T",
"hgvs_p": null,
"transcript": "ENST00000392918.7",
"protein_id": "ENSP00000376650.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": null,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392918.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "n.412G>T",
"hgvs_p": null,
"transcript": "ENST00000478805.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478805.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3334G>T",
"hgvs_p": "p.Val1112Leu",
"transcript": "NM_001400438.1",
"protein_id": "NP_001387367.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400438.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.2995G>T",
"hgvs_p": "p.Val999Leu",
"transcript": "NM_001018044.3",
"protein_id": "NP_001018054.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1215,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018044.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.1504G>T",
"hgvs_p": "p.Val502Leu",
"transcript": "ENST00000437365.2",
"protein_id": "ENSP00000392827.1",
"transcript_support_level": 2,
"aa_start": 502,
"aa_end": null,
"aa_length": 697,
"cds_start": 1504,
"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": "ENST00000437365.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.880G>T",
"hgvs_p": "p.Val294Leu",
"transcript": "NM_001018046.3",
"protein_id": "NP_001018056.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 510,
"cds_start": 880,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018046.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Val244Leu",
"transcript": "NM_001282883.2",
"protein_id": "NP_001269812.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 460,
"cds_start": 730,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282883.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3385G>T",
"hgvs_p": "p.Val1129Leu",
"transcript": "XM_011511891.3",
"protein_id": "XP_011510193.1",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
"aa_length": 1345,
"cds_start": 3385,
"cds_end": null,
"cds_length": 4038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511891.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3250G>T",
"hgvs_p": "p.Val1084Leu",
"transcript": "XM_017005004.3",
"protein_id": "XP_016860493.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3250,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005004.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3250G>T",
"hgvs_p": "p.Val1084Leu",
"transcript": "XM_017005005.3",
"protein_id": "XP_016860494.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3250,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005005.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3049G>T",
"hgvs_p": "p.Val1017Leu",
"transcript": "XM_011511896.4",
"protein_id": "XP_011510198.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3049,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511896.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.3049G>T",
"hgvs_p": "p.Val1017Leu",
"transcript": "XM_011511897.4",
"protein_id": "XP_011510199.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3049,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511897.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.2968G>T",
"hgvs_p": "p.Val990Leu",
"transcript": "XM_017005006.3",
"protein_id": "XP_016860495.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1206,
"cds_start": 2968,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005006.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.*78G>T",
"hgvs_p": null,
"transcript": "NM_001321177.2",
"protein_id": "NP_001308106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1152,
"cds_start": null,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321177.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.*92G>T",
"hgvs_p": null,
"transcript": "XM_017005007.2",
"protein_id": "XP_016860496.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1086,
"cds_start": null,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005007.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MAP3K19",
"gene_hgnc_id": 26249,
"hgvs_c": "c.737-1G>T",
"hgvs_p": null,
"transcript": "NM_001018047.3",
"protein_id": "NP_001018057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": null,
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"cds_length": 1389,
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{
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"verdict": "Uncertain_significance",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}