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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: 5-75344257-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75344257&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 75344257,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000859.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "NM_000859.3",
"protein_id": "NP_000850.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 888,
"cds_start": 290,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000287936.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000859.3"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000287936.9",
"protein_id": "ENSP00000287936.4",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 888,
"cds_start": 290,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000859.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287936.9"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000343975.9",
"protein_id": "ENSP00000340816.5",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 835,
"cds_start": 290,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343975.9"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "NM_001364187.1",
"protein_id": "NP_001351116.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 888,
"cds_start": 290,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364187.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000511206.5",
"protein_id": "ENSP00000426745.1",
"transcript_support_level": 2,
"aa_start": 97,
"aa_end": null,
"aa_length": 888,
"cds_start": 290,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511206.5"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000680940.1",
"protein_id": "ENSP00000505561.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 888,
"cds_start": 290,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680940.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000681271.1",
"protein_id": "ENSP00000505805.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 888,
"cds_start": 290,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681271.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000681410.1",
"protein_id": "ENSP00000506232.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 888,
"cds_start": 290,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681410.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000863955.1",
"protein_id": "ENSP00000534014.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 888,
"cds_start": 290,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863955.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000863957.1",
"protein_id": "ENSP00000534016.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 888,
"cds_start": 290,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863957.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000863961.1",
"protein_id": "ENSP00000534020.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 888,
"cds_start": 290,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863961.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000863963.1",
"protein_id": "ENSP00000534022.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 888,
"cds_start": 290,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863963.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000863965.1",
"protein_id": "ENSP00000534024.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 888,
"cds_start": 290,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863965.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000863966.1",
"protein_id": "ENSP00000534025.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 888,
"cds_start": 290,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863966.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000969680.1",
"protein_id": "ENSP00000639739.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 888,
"cds_start": 290,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969680.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000969679.1",
"protein_id": "ENSP00000639738.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 874,
"cds_start": 290,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969679.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000680160.1",
"protein_id": "ENSP00000505315.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 873,
"cds_start": 290,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680160.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000919690.1",
"protein_id": "ENSP00000589749.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 873,
"cds_start": 290,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919690.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000863960.1",
"protein_id": "ENSP00000534019.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 871,
"cds_start": 290,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863960.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000863956.1",
"protein_id": "ENSP00000534015.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 857,
"cds_start": 290,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863956.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000863959.1",
"protein_id": "ENSP00000534018.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 857,
"cds_start": 290,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863959.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.290T>A",
"hgvs_p": "p.Leu97His",
"transcript": "ENST00000863962.1",
"protein_id": "ENSP00000534021.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 857,
"cds_start": 290,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"phenotype_combined": "Inborn genetic diseases",
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}
],
"message": null
}