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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: 14-74882601-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74882601&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 74882601,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001933.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Pro25Arg",
"transcript": "NM_001933.5",
"protein_id": "NP_001924.2",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 453,
"cds_start": 74,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334220.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001933.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Pro25Arg",
"transcript": "ENST00000334220.9",
"protein_id": "ENSP00000335304.4",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 453,
"cds_start": 74,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001933.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334220.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.72C>G",
"hgvs_p": "p.Pro24Pro",
"transcript": "ENST00000554806.5",
"protein_id": "ENSP00000451957.1",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 278,
"cds_start": 72,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554806.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "n.74C>G",
"hgvs_p": null,
"transcript": "ENST00000555089.5",
"protein_id": "ENSP00000452422.1",
"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": "ENST00000555089.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Pro25Arg",
"transcript": "ENST00000875051.1",
"protein_id": "ENSP00000545110.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 452,
"cds_start": 74,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875051.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Pro25Arg",
"transcript": "ENST00000875057.1",
"protein_id": "ENSP00000545116.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 449,
"cds_start": 74,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875057.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Pro25Arg",
"transcript": "ENST00000875056.1",
"protein_id": "ENSP00000545115.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 446,
"cds_start": 74,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875056.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Pro25Arg",
"transcript": "ENST00000875061.1",
"protein_id": "ENSP00000545120.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 443,
"cds_start": 74,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875061.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Pro25Arg",
"transcript": "ENST00000875059.1",
"protein_id": "ENSP00000545118.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 436,
"cds_start": 74,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875059.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Pro25Arg",
"transcript": "ENST00000875054.1",
"protein_id": "ENSP00000545113.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 428,
"cds_start": 74,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875054.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Pro25Arg",
"transcript": "ENST00000875052.1",
"protein_id": "ENSP00000545111.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 418,
"cds_start": 74,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875052.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Pro25Arg",
"transcript": "ENST00000875048.1",
"protein_id": "ENSP00000545107.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 397,
"cds_start": 74,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875048.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Pro25Arg",
"transcript": "ENST00000875053.1",
"protein_id": "ENSP00000545112.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 397,
"cds_start": 74,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875053.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Pro25Arg",
"transcript": "NM_001244883.2",
"protein_id": "NP_001231812.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 166,
"cds_start": 74,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244883.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Pro25Arg",
"transcript": "ENST00000626051.1",
"protein_id": "ENSP00000487251.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 83,
"cds_start": 74,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626051.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Pro25Arg",
"transcript": "XM_047431066.1",
"protein_id": "XP_047287022.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 224,
"cds_start": 74,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431066.1"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.63+585C>G",
"hgvs_p": null,
"transcript": "ENST00000875050.1",
"protein_id": "ENSP00000545109.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 448,
"cds_start": null,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875050.1"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.63+585C>G",
"hgvs_p": null,
"transcript": "ENST00000875049.1",
"protein_id": "ENSP00000545108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": null,
"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": "ENST00000875049.1"
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.63+585C>G",
"hgvs_p": null,
"transcript": "ENST00000875058.1",
"protein_id": "ENSP00000545117.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 438,
"cds_start": null,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875058.1"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.63+585C>G",
"hgvs_p": null,
"transcript": "ENST00000875060.1",
"protein_id": "ENSP00000545119.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": null,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875060.1"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.63+585C>G",
"hgvs_p": null,
"transcript": "ENST00000875055.1",
"protein_id": "ENSP00000545114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875055.1"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DLST",
"gene_hgnc_id": 2911,
"hgvs_c": "c.-404+585C>G",
"hgvs_p": null,
"transcript": "XM_047431065.1",
"protein_id": "XP_047287021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431065.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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}
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}