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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: 12-122208431-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122208431&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122208431,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000464942.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"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": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.670G>T",
"hgvs_p": "p.Gly224Trp",
"transcript": "NM_001371333.1",
"protein_id": "NP_001358262.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 239,
"cds_start": 670,
"cds_end": null,
"cds_length": 720,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1471,
"mane_select": "ENST00000464942.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"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": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.670G>T",
"hgvs_p": "p.Gly224Trp",
"transcript": "ENST00000464942.7",
"protein_id": "ENSP00000442360.2",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 239,
"cds_start": 670,
"cds_end": null,
"cds_length": 720,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1471,
"mane_select": "NM_001371333.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.538G>T",
"hgvs_p": "p.Gly180Trp",
"transcript": "ENST00000353548.11",
"protein_id": "ENSP00000320343.6",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 195,
"cds_start": 538,
"cds_end": null,
"cds_length": 588,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 1338,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.*500G>T",
"hgvs_p": null,
"transcript": "ENST00000342392.3",
"protein_id": "ENSP00000339963.3",
"transcript_support_level": 1,
"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": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256861",
"gene_hgnc_id": null,
"hgvs_c": "n.*464G>T",
"hgvs_p": null,
"transcript": "ENST00000535844.1",
"protein_id": "ENSP00000454454.1",
"transcript_support_level": 2,
"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": 2748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT4",
"gene_hgnc_id": 15683,
"hgvs_c": "c.*1043C>A",
"hgvs_p": null,
"transcript": "NM_030765.4",
"protein_id": "NP_110392.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 378,
"cds_start": -4,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2891,
"mane_select": "ENST00000324189.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNT4",
"gene_hgnc_id": 15683,
"hgvs_c": "c.*1043C>A",
"hgvs_p": null,
"transcript": "ENST00000324189.5",
"protein_id": "ENSP00000319636.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 378,
"cds_start": -4,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2891,
"mane_select": "NM_030765.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.*126G>T",
"hgvs_p": null,
"transcript": "ENST00000267169.11",
"protein_id": "ENSP00000267169.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": -4,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.*500G>T",
"hgvs_p": null,
"transcript": "ENST00000342392.3",
"protein_id": "ENSP00000339963.3",
"transcript_support_level": 1,
"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": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256861",
"gene_hgnc_id": null,
"hgvs_c": "n.*464G>T",
"hgvs_p": null,
"transcript": "ENST00000535844.1",
"protein_id": "ENSP00000454454.1",
"transcript_support_level": 2,
"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": 2748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.670G>T",
"hgvs_p": "p.Gly224Trp",
"transcript": "NM_019887.6",
"protein_id": "NP_063940.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 239,
"cds_start": 670,
"cds_end": null,
"cds_length": 720,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.538G>T",
"hgvs_p": "p.Gly180Trp",
"transcript": "NM_001278342.1",
"protein_id": "NP_001265271.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 195,
"cds_start": 538,
"cds_end": null,
"cds_length": 588,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.511G>T",
"hgvs_p": "p.Gly171Trp",
"transcript": "NM_001278304.2",
"protein_id": "NP_001265233.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 186,
"cds_start": 511,
"cds_end": null,
"cds_length": 561,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"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": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.511G>T",
"hgvs_p": "p.Gly171Trp",
"transcript": "NM_138930.3",
"protein_id": "NP_620308.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 186,
"cds_start": 511,
"cds_end": null,
"cds_length": 561,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.451G>T",
"hgvs_p": "p.Gly151Trp",
"transcript": "NM_001278303.1",
"protein_id": "NP_001265232.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 166,
"cds_start": 451,
"cds_end": null,
"cds_length": 501,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.379G>T",
"hgvs_p": "p.Gly127Trp",
"transcript": "NM_001278302.1",
"protein_id": "NP_001265231.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 142,
"cds_start": 379,
"cds_end": null,
"cds_length": 429,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 1832,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.785G>T",
"hgvs_p": null,
"transcript": "ENST00000474004.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 804,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.1275G>T",
"hgvs_p": null,
"transcript": "ENST00000489781.3",
"protein_id": null,
"transcript_support_level": 2,
"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": 1902,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.*584G>T",
"hgvs_p": null,
"transcript": "ENST00000540535.6",
"protein_id": "ENSP00000441139.2",
"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": 1429,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.*368G>T",
"hgvs_p": null,
"transcript": "ENST00000541273.6",
"protein_id": "ENSP00000440971.2",
"transcript_support_level": 2,
"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": 555,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.2514G>T",
"hgvs_p": null,
"transcript": "ENST00000642640.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3103,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.*450G>T",
"hgvs_p": null,
"transcript": "ENST00000644227.1",
"protein_id": "ENSP00000494535.1",
"transcript_support_level": null,
"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": 1523,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.1905G>T",
"hgvs_p": null,
"transcript": "ENST00000644509.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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{
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{
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}
],
"message": null
}