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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: 16-58504632-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=58504632&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 58504632,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000570248.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"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": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Val119Leu",
"transcript": "NM_001242835.2",
"protein_id": "NP_001229764.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 352,
"cds_start": 355,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": "ENST00000570248.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Val119Leu",
"transcript": "ENST00000570248.6",
"protein_id": "ENSP00000457659.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 352,
"cds_start": 355,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": "NM_001242835.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.511G>C",
"hgvs_p": "p.Val171Leu",
"transcript": "ENST00000394282.8",
"protein_id": "ENSP00000377823.4",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 391,
"cds_start": 511,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.451G>C",
"hgvs_p": "p.Val151Leu",
"transcript": "ENST00000258187.9",
"protein_id": "ENSP00000258187.5",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 371,
"cds_start": 451,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 3324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Val119Leu",
"transcript": "ENST00000566192.5",
"protein_id": "ENSP00000454410.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 339,
"cds_start": 355,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.601G>C",
"hgvs_p": "p.Val201Leu",
"transcript": "NM_001378332.1",
"protein_id": "NP_001365261.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 434,
"cds_start": 601,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Val189Leu",
"transcript": "NM_001378333.1",
"protein_id": "NP_001365262.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 422,
"cds_start": 565,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 3461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.601G>C",
"hgvs_p": "p.Val201Leu",
"transcript": "NM_001378334.1",
"protein_id": "NP_001365263.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 421,
"cds_start": 601,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 3458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Val189Leu",
"transcript": "NM_001378335.1",
"protein_id": "NP_001365264.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 409,
"cds_start": 565,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.511G>C",
"hgvs_p": "p.Val171Leu",
"transcript": "NM_001378336.1",
"protein_id": "NP_001365265.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 404,
"cds_start": 511,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.544G>C",
"hgvs_p": "p.Val182Leu",
"transcript": "NM_001378337.1",
"protein_id": "NP_001365266.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 402,
"cds_start": 544,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Val169Leu",
"transcript": "NM_001378338.1",
"protein_id": "NP_001365267.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 402,
"cds_start": 505,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.541G>C",
"hgvs_p": "p.Val181Leu",
"transcript": "NM_001378339.1",
"protein_id": "NP_001365268.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 401,
"cds_start": 541,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 3355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.541G>C",
"hgvs_p": "p.Val181Leu",
"transcript": "NM_001378340.1",
"protein_id": "NP_001365269.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 401,
"cds_start": 541,
"cds_end": null,
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"cdna_start": 835,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.490G>C",
"hgvs_p": "p.Val164Leu",
"transcript": "NM_001378341.1",
"protein_id": "NP_001365270.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 397,
"cds_start": 490,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.511G>C",
"hgvs_p": "p.Val171Leu",
"transcript": "NM_001130487.2",
"protein_id": "NP_001123959.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 391,
"cds_start": 511,
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"cdna_start": 660,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Val169Leu",
"transcript": "NM_001378342.1",
"protein_id": "NP_001365271.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 389,
"cds_start": 505,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 3319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.490G>C",
"hgvs_p": "p.Val164Leu",
"transcript": "NM_001378343.1",
"protein_id": "NP_001365272.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 384,
"cds_start": 490,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 3308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.451G>C",
"hgvs_p": "p.Val151Leu",
"transcript": "NM_001378345.1",
"protein_id": "NP_001365274.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 384,
"cds_start": 451,
"cds_end": null,
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"cdna_start": 557,
"cdna_end": null,
"cdna_length": 3304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.445G>C",
"hgvs_p": "p.Val149Leu",
"transcript": "NM_001378344.1",
"protein_id": "NP_001365273.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 382,
"cds_start": 445,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.451G>C",
"hgvs_p": "p.Val151Leu",
"transcript": "NM_001378346.1",
"protein_id": "NP_001365275.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 371,
"cds_start": 451,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.451G>C",
"hgvs_p": "p.Val151Leu",
"transcript": "NM_020465.4",
"protein_id": "NP_065198.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 371,
"cds_start": 451,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG4",
"gene_hgnc_id": 14466,
"hgvs_c": "c.451G>C",
"hgvs_p": "p.Val151Leu",
"transcript": "NM_022910.4",
"protein_id": "NP_075061.1",
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}