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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: 1-29196234-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=29196234&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 29196234,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000263702.11",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.855T>C",
"hgvs_p": "p.Tyr285Tyr",
"transcript": "NM_016011.5",
"protein_id": "NP_057095.4",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 373,
"cds_start": 855,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": "ENST00000263702.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.855T>C",
"hgvs_p": "p.Tyr285Tyr",
"transcript": "ENST00000263702.11",
"protein_id": "ENSP00000263702.6",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 373,
"cds_start": 855,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": "NM_016011.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.1084T>C",
"hgvs_p": "p.Trp362Arg",
"transcript": "XM_011541539.2",
"protein_id": "XP_011539841.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 459,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.1000T>C",
"hgvs_p": "p.Trp334Arg",
"transcript": "XM_011541540.3",
"protein_id": "XP_011539842.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 431,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 2194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.772T>C",
"hgvs_p": "p.Trp258Arg",
"transcript": "XM_011541546.2",
"protein_id": "XP_011539848.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 355,
"cds_start": 772,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.960T>C",
"hgvs_p": "p.Tyr320Tyr",
"transcript": "NM_001349715.2",
"protein_id": "NP_001336644.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 408,
"cds_start": 960,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.939T>C",
"hgvs_p": "p.Tyr313Tyr",
"transcript": "NM_001349716.2",
"protein_id": "NP_001336645.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 401,
"cds_start": 939,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.705T>C",
"hgvs_p": "p.Tyr235Tyr",
"transcript": "NM_001349717.2",
"protein_id": "NP_001336646.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 323,
"cds_start": 705,
"cds_end": null,
"cds_length": 972,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.627T>C",
"hgvs_p": "p.Tyr209Tyr",
"transcript": "NM_001024732.4",
"protein_id": "NP_001019903.3",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 297,
"cds_start": 627,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.627T>C",
"hgvs_p": "p.Tyr209Tyr",
"transcript": "NM_001349711.2",
"protein_id": "NP_001336640.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 297,
"cds_start": 627,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.627T>C",
"hgvs_p": "p.Tyr209Tyr",
"transcript": "NM_001349712.2",
"protein_id": "NP_001336641.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 297,
"cds_start": 627,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.627T>C",
"hgvs_p": "p.Tyr209Tyr",
"transcript": "NM_001349713.2",
"protein_id": "NP_001336642.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 297,
"cds_start": 627,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.627T>C",
"hgvs_p": "p.Tyr209Tyr",
"transcript": "NM_001349714.2",
"protein_id": "NP_001336643.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 297,
"cds_start": 627,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.627T>C",
"hgvs_p": "p.Tyr209Tyr",
"transcript": "ENST00000373791.7",
"protein_id": "ENSP00000362896.3",
"transcript_support_level": 2,
"aa_start": 209,
"aa_end": null,
"aa_length": 297,
"cds_start": 627,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.939T>C",
"hgvs_p": "p.Tyr313Tyr",
"transcript": "XM_011541541.2",
"protein_id": "XP_011539843.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 364,
"cds_start": 939,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.855T>C",
"hgvs_p": "p.Tyr285Tyr",
"transcript": "XM_047422042.1",
"protein_id": "XP_047277998.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 336,
"cds_start": 855,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 883,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.627T>C",
"hgvs_p": "p.Tyr209Tyr",
"transcript": "XM_047422051.1",
"protein_id": "XP_047278007.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 297,
"cds_start": 627,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "n.517T>C",
"hgvs_p": null,
"transcript": "ENST00000453185.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "n.474T>C",
"hgvs_p": null,
"transcript": "ENST00000463412.1",
"protein_id": "ENSP00000436831.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "n.504T>C",
"hgvs_p": null,
"transcript": "ENST00000473030.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "n.273T>C",
"hgvs_p": null,
"transcript": "ENST00000475773.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "n.754T>C",
"hgvs_p": null,
"transcript": "ENST00000478505.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "n.99T>C",
"hgvs_p": null,
"transcript": "ENST00000483435.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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}
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}