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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: 16-86541774-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=86541774&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 86541774,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001159377.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.604G>C",
"hgvs_p": "p.Asp202His",
"transcript": "NM_001159377.2",
"protein_id": "NP_001152849.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 383,
"cds_start": 604,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360900.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159377.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.604G>C",
"hgvs_p": "p.Asp202His",
"transcript": "ENST00000360900.11",
"protein_id": "ENSP00000354152.6",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 383,
"cds_start": 604,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001159377.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360900.11"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.604G>C",
"hgvs_p": "p.Asp202His",
"transcript": "ENST00000381214.9",
"protein_id": "ENSP00000370612.5",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 383,
"cds_start": 604,
"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": "ENST00000381214.9"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.601G>C",
"hgvs_p": "p.Asp201His",
"transcript": "ENST00000543303.6",
"protein_id": "ENSP00000444003.2",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 382,
"cds_start": 601,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543303.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.601G>C",
"hgvs_p": "p.Asp201His",
"transcript": "ENST00000634347.1",
"protein_id": "ENSP00000489295.1",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 382,
"cds_start": 601,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634347.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.586G>C",
"hgvs_p": "p.Asp196His",
"transcript": "ENST00000562940.6",
"protein_id": "ENSP00000456652.2",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 223,
"cds_start": 586,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562940.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "n.*409G>C",
"hgvs_p": null,
"transcript": "ENST00000566050.5",
"protein_id": "ENSP00000456910.1",
"transcript_support_level": 1,
"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": "ENST00000566050.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "n.*409G>C",
"hgvs_p": null,
"transcript": "ENST00000566050.5",
"protein_id": "ENSP00000456910.1",
"transcript_support_level": 1,
"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": "ENST00000566050.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.604G>C",
"hgvs_p": "p.Asp202His",
"transcript": "NM_001159378.2",
"protein_id": "NP_001152850.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 383,
"cds_start": 604,
"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": "NM_001159378.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.601G>C",
"hgvs_p": "p.Asp201His",
"transcript": "NM_001159379.2",
"protein_id": "NP_001152851.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 382,
"cds_start": 601,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159379.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.601G>C",
"hgvs_p": "p.Asp201His",
"transcript": "NM_022764.3",
"protein_id": "NP_073601.2",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 382,
"cds_start": 601,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022764.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.544G>C",
"hgvs_p": "p.Asp182His",
"transcript": "NM_001159380.2",
"protein_id": "NP_001152852.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 363,
"cds_start": 544,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159380.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.169G>C",
"hgvs_p": "p.Asp57His",
"transcript": "ENST00000950129.1",
"protein_id": "ENSP00000620188.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 238,
"cds_start": 169,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950129.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.583G>C",
"hgvs_p": "p.Asp195His",
"transcript": "ENST00000566469.5",
"protein_id": "ENSP00000455940.1",
"transcript_support_level": 2,
"aa_start": 195,
"aa_end": null,
"aa_length": 232,
"cds_start": 583,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566469.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.115G>C",
"hgvs_p": "p.Asp39His",
"transcript": "ENST00000546093.5",
"protein_id": "ENSP00000438761.1",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 220,
"cds_start": 115,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546093.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.487G>C",
"hgvs_p": "p.Asp163His",
"transcript": "ENST00000569000.5",
"protein_id": "ENSP00000454807.1",
"transcript_support_level": 4,
"aa_start": 163,
"aa_end": null,
"aa_length": 173,
"cds_start": 487,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569000.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.544G>C",
"hgvs_p": "p.Asp182His",
"transcript": "XM_005256101.2",
"protein_id": "XP_005256158.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 363,
"cds_start": 544,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256101.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.544G>C",
"hgvs_p": "p.Asp182His",
"transcript": "XM_011523280.3",
"protein_id": "XP_011521582.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 363,
"cds_start": 544,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523280.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.544G>C",
"hgvs_p": "p.Asp182His",
"transcript": "XM_047434497.1",
"protein_id": "XP_047290453.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 363,
"cds_start": 544,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434497.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.544G>C",
"hgvs_p": "p.Asp182His",
"transcript": "XM_047434498.1",
"protein_id": "XP_047290454.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 363,
"cds_start": 544,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434498.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.544G>C",
"hgvs_p": "p.Asp182His",
"transcript": "XM_047434499.1",
"protein_id": "XP_047290455.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 363,
"cds_start": 544,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434499.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.490G>C",
"hgvs_p": "p.Asp164His",
"transcript": "XM_017023571.2",
"protein_id": "XP_016879060.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 345,
"cds_start": 490,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023571.2"
},
{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}