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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: 12-122224520-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122224520&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122224520,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000464942.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Ile59Leu",
"transcript": "NM_001371333.1",
"protein_id": "NP_001358262.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 239,
"cds_start": 175,
"cds_end": null,
"cds_length": 720,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 1471,
"mane_select": "ENST00000464942.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Ile59Leu",
"transcript": "ENST00000464942.7",
"protein_id": "ENSP00000442360.2",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 239,
"cds_start": 175,
"cds_end": null,
"cds_length": 720,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 1471,
"mane_select": "NM_001371333.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Ile59Leu",
"transcript": "ENST00000267169.11",
"protein_id": "ENSP00000267169.7",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 209,
"cds_start": 175,
"cds_end": null,
"cds_length": 630,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 1418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Ile59Leu",
"transcript": "ENST00000353548.11",
"protein_id": "ENSP00000320343.6",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 195,
"cds_start": 175,
"cds_end": null,
"cds_length": 588,
"cdna_start": 213,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.*13+125A>C",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256861",
"gene_hgnc_id": null,
"hgvs_c": "n.1595-6123A>C",
"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": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Ile59Leu",
"transcript": "NM_019887.6",
"protein_id": "NP_063940.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 239,
"cds_start": 175,
"cds_end": null,
"cds_length": 720,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Ile59Leu",
"transcript": "NM_001278342.1",
"protein_id": "NP_001265271.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 195,
"cds_start": 175,
"cds_end": null,
"cds_length": 588,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.169A>C",
"hgvs_p": "p.Ile57Leu",
"transcript": "ENST00000446652.5",
"protein_id": "ENSP00000390103.1",
"transcript_support_level": 3,
"aa_start": 57,
"aa_end": null,
"aa_length": 189,
"cds_start": 169,
"cds_end": null,
"cds_length": 572,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 573,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284934",
"gene_hgnc_id": null,
"hgvs_c": "n.191A>C",
"hgvs_p": null,
"transcript": "ENST00000485724.1",
"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": 560,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.*89A>C",
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.*89A>C",
"hgvs_p": null,
"transcript": "ENST00000541656.6",
"protein_id": "ENSP00000440653.2",
"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": 732,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.175A>C",
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.1503A>C",
"hgvs_p": null,
"transcript": "ENST00000645569.1",
"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": 2641,
"mane_select": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284934",
"gene_hgnc_id": null,
"hgvs_c": "c.*590A>C",
"hgvs_p": null,
"transcript": "ENST00000645606.1",
"protein_id": "ENSP00000493911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 44,
"cds_start": -4,
"cds_end": null,
"cds_length": 135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2257,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.*89A>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.*89A>C",
"hgvs_p": null,
"transcript": "ENST00000541656.6",
"protein_id": "ENSP00000440653.2",
"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": 732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.24+125A>C",
"hgvs_p": null,
"transcript": "NM_001278304.2",
"protein_id": "NP_001265233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": -4,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.24+125A>C",
"hgvs_p": null,
"transcript": "NM_138930.3",
"protein_id": "NP_620308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": -4,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.-37+1445A>C",
"hgvs_p": null,
"transcript": "NM_001278303.1",
"protein_id": "NP_001265232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": -4,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "c.24+125A>C",
"hgvs_p": null,
"transcript": "NM_001278302.1",
"protein_id": "NP_001265231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.*13+125A>C",
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DIABLO",
"gene_hgnc_id": 21528,
"hgvs_c": "n.1418+125A>C",
"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,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
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],
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"acmg_by_gene": [
{
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"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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{
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"PM2",
"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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"hgvs_c": "n.1595-6123A>C",
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},
{
"score": 0,
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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],
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"hgvs_c": "n.191A>C",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
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"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}