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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: 7-80661068-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=80661068&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 80661068,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001001548.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "NM_001001548.3",
"protein_id": "NP_001001548.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 472,
"cds_start": 287,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": "ENST00000447544.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "ENST00000447544.7",
"protein_id": "ENSP00000415743.2",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 472,
"cds_start": 287,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": "NM_001001548.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "ENST00000309881.11",
"protein_id": "ENSP00000308165.7",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 472,
"cds_start": 287,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "ENST00000394788.7",
"protein_id": "ENSP00000378268.3",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 472,
"cds_start": 287,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "ENST00000432207.5",
"protein_id": "ENSP00000411411.1",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 472,
"cds_start": 287,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "ENST00000419819.2",
"protein_id": "ENSP00000392298.2",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 462,
"cds_start": 287,
"cds_end": null,
"cds_length": 1391,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "NM_000072.3",
"protein_id": "NP_000063.2",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 472,
"cds_start": 287,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 2106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "NM_001001547.3",
"protein_id": "NP_001001547.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 472,
"cds_start": 287,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "NM_001127443.2",
"protein_id": "NP_001120915.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 472,
"cds_start": 287,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "NM_001127444.2",
"protein_id": "NP_001120916.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 472,
"cds_start": 287,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "NM_001371074.1",
"protein_id": "NP_001358003.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 472,
"cds_start": 287,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 2044,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "NM_001371075.1",
"protein_id": "NP_001358004.1",
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"aa_start": 96,
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"aa_length": 472,
"cds_start": 287,
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"cdna_start": 643,
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"cdna_length": 4666,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "NM_001371077.1",
"protein_id": "NP_001358006.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 472,
"cds_start": 287,
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"cdna_start": 569,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "NM_001371078.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "CD36",
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"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "ENST00000435819.5",
"protein_id": "ENSP00000399421.1",
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"aa_start": 96,
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"cdna_start": 971,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.185G>C",
"hgvs_p": "p.Arg62Pro",
"transcript": "NM_001371079.1",
"protein_id": "NP_001358008.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "NM_001289908.1",
"protein_id": "NP_001276837.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "ENST00000433696.6",
"protein_id": "ENSP00000401863.2",
"transcript_support_level": 5,
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"cds_start": 287,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "CD36",
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"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "NM_001289909.1",
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},
{
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],
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"gene_symbol": "CD36",
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"hgvs_c": "c.287G>C",
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"transcript": "ENST00000538969.5",
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},
{
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],
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"gene_symbol": "CD36",
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"hgvs_c": "c.59G>C",
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"transcript": "NM_001289911.2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.59G>C",
"hgvs_p": "p.Arg20Pro",
"transcript": "ENST00000534394.5",
"protein_id": "ENSP00000431296.1",
"transcript_support_level": 2,
"aa_start": 20,
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"cds_start": 59,
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"cdna_start": 340,
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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": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "CD36",
"gene_hgnc_id": 1663,
"hgvs_c": "c.287G>C",
"hgvs_p": "p.Arg96Pro",
"transcript": "ENST00000544133.5",
"protein_id": "ENSP00000441956.1",
"transcript_support_level": 5,
"aa_start": 96,
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"phenotype_combined": "not specified",
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}
],
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}