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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: 16-72058266-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=72058266&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 72058266,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005143.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "NM_005143.5",
"protein_id": "NP_005134.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 406,
"cds_start": 278,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355906.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005143.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "ENST00000355906.10",
"protein_id": "ENSP00000348170.5",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 406,
"cds_start": 278,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005143.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355906.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"transcript": "ENST00000570083.5",
"protein_id": "ENSP00000457629.1",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 347,
"cds_start": 101,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570083.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.191-848C>T",
"hgvs_p": null,
"transcript": "ENST00000398131.6",
"protein_id": "ENSP00000381199.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": null,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398131.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.265+800C>T",
"hgvs_p": null,
"transcript": "ENST00000565574.5",
"protein_id": "ENSP00000454966.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": null,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565574.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310525",
"gene_hgnc_id": null,
"hgvs_c": "n.285-13909G>A",
"hgvs_p": null,
"transcript": "ENST00000562153.6",
"protein_id": "ENSP00000454635.2",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000562153.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Pro129Leu",
"transcript": "ENST00000888281.1",
"protein_id": "ENSP00000558340.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 478,
"cds_start": 386,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888281.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Pro129Leu",
"transcript": "ENST00000888279.1",
"protein_id": "ENSP00000558338.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 457,
"cds_start": 386,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888279.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "ENST00000357763.8",
"protein_id": "ENSP00000350406.5",
"transcript_support_level": 5,
"aa_start": 93,
"aa_end": null,
"aa_length": 442,
"cds_start": 278,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357763.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Pro129Leu",
"transcript": "ENST00000888266.1",
"protein_id": "ENSP00000558325.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 442,
"cds_start": 386,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888266.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000955434.1",
"protein_id": "ENSP00000625493.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 441,
"cds_start": 275,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955434.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "ENST00000888269.1",
"protein_id": "ENSP00000558328.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 422,
"cds_start": 278,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888269.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.326C>T",
"hgvs_p": "p.Pro109Leu",
"transcript": "ENST00000888277.1",
"protein_id": "ENSP00000558336.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 422,
"cds_start": 326,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888277.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "ENST00000888271.1",
"protein_id": "ENSP00000558330.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 421,
"cds_start": 278,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888271.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.323C>T",
"hgvs_p": "p.Pro108Leu",
"transcript": "ENST00000888275.1",
"protein_id": "ENSP00000558334.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 421,
"cds_start": 323,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888275.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.323C>T",
"hgvs_p": "p.Pro108Leu",
"transcript": "ENST00000888276.1",
"protein_id": "ENSP00000558335.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 421,
"cds_start": 323,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888276.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "ENST00000888273.1",
"protein_id": "ENSP00000558332.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 420,
"cds_start": 278,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888273.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.320C>T",
"hgvs_p": "p.Pro107Leu",
"transcript": "ENST00000888280.1",
"protein_id": "ENSP00000558339.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 420,
"cds_start": 320,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888280.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Pro92Leu",
"transcript": "ENST00000888267.1",
"protein_id": "ENSP00000558326.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 405,
"cds_start": 275,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888267.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Pro91Leu",
"transcript": "ENST00000567185.7",
"protein_id": "ENSP00000464070.1",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 403,
"cds_start": 272,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567185.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Pro93Leu",
"transcript": "ENST00000888274.1",
"protein_id": "ENSP00000558333.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 402,
"cds_start": 278,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888274.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HP",
"gene_hgnc_id": 5141,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"transcript": "ENST00000888278.1",
"protein_id": "ENSP00000558337.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 383,
"cds_start": 101,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888278.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"phenotype_combined": "not specified",
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}
],
"message": null
}