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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: 16-1587961-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1587961&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1587961,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000426508.7",
"consequences": [
{
"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": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "NM_014714.4",
"protein_id": "NP_055529.2",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1462,
"cds_start": 874,
"cds_end": null,
"cds_length": 4389,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 5232,
"mane_select": "ENST00000426508.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "ENST00000426508.7",
"protein_id": "ENSP00000406012.2",
"transcript_support_level": 5,
"aa_start": 292,
"aa_end": null,
"aa_length": 1462,
"cds_start": 874,
"cds_end": null,
"cds_length": 4389,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 5232,
"mane_select": "NM_014714.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_006720990.4",
"protein_id": "XP_006721053.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1462,
"cds_start": 874,
"cds_end": null,
"cds_length": 4389,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 5222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_006720991.4",
"protein_id": "XP_006721054.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1462,
"cds_start": 874,
"cds_end": null,
"cds_length": 4389,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 6238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_047434965.1",
"protein_id": "XP_047290921.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1462,
"cds_start": 874,
"cds_end": null,
"cds_length": 4389,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 4975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_047434966.1",
"protein_id": "XP_047290922.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1462,
"cds_start": 874,
"cds_end": null,
"cds_length": 4389,
"cdna_start": 1756,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_047434967.1",
"protein_id": "XP_047290923.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1462,
"cds_start": 874,
"cds_end": null,
"cds_length": 4389,
"cdna_start": 2332,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_047434968.1",
"protein_id": "XP_047290924.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1462,
"cds_start": 874,
"cds_end": null,
"cds_length": 4389,
"cdna_start": 2343,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_047434969.1",
"protein_id": "XP_047290925.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1462,
"cds_start": 874,
"cds_end": null,
"cds_length": 4389,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_047434970.1",
"protein_id": "XP_047290926.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1380,
"cds_start": 874,
"cds_end": null,
"cds_length": 4143,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 4986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_011522769.4",
"protein_id": "XP_011521071.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 817,
"cds_start": 874,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_047434972.1",
"protein_id": "XP_047290928.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 811,
"cds_start": 874,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1200,
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"cdna_length": 5824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_005255725.6",
"protein_id": "XP_005255782.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 807,
"cds_start": 874,
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"cdna_start": 1200,
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"cdna_length": 3260,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_047434973.1",
"protein_id": "XP_047290929.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 8,
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_011522771.4",
"protein_id": "XP_011521073.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 806,
"cds_start": 874,
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"cdna_start": 1200,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_047434974.1",
"protein_id": "XP_047290930.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_047434975.1",
"protein_id": "XP_047290931.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_011522772.4",
"protein_id": "XP_011521074.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 804,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
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"intron_rank": null,
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"gene_symbol": "IFT140",
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"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_047434976.1",
"protein_id": "XP_047290932.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
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"intron_rank": null,
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"gene_symbol": "IFT140",
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"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_005255726.5",
"protein_id": "XP_005255783.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "IFT140",
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"transcript": "XM_047434977.1",
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"cds_start": 874,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "XM_047434978.1",
"protein_id": "XP_047290934.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 801,
"cds_start": 874,
"cds_end": null,
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"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT140",
"gene_hgnc_id": 29077,
"hgvs_c": "c.874G>C",
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{
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"PM5"
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"verdict": "Uncertain_significance",
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{
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{
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
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}
],
"message": null
}