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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: 12-100262365-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=100262365&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 100262365,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001387201.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"transcript": "NM_001364818.2",
"protein_id": "NP_001351747.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 496,
"cds_start": 599,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000550587.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364818.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"transcript": "ENST00000550587.6",
"protein_id": "ENSP00000448385.2",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 496,
"cds_start": 599,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001364818.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550587.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Gly133Asp",
"transcript": "ENST00000549249.5",
"protein_id": "ENSP00000448338.1",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 332,
"cds_start": 398,
"cds_end": null,
"cds_length": 1000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549249.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"transcript": "ENST00000416321.5",
"protein_id": "ENSP00000396234.1",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 294,
"cds_start": 599,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416321.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"transcript": "ENST00000551642.1",
"protein_id": "ENSP00000449590.1",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 286,
"cds_start": 578,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551642.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "n.*28G>A",
"hgvs_p": null,
"transcript": "ENST00000299185.12",
"protein_id": "ENSP00000299185.8",
"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": "ENST00000299185.12"
},
{
"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": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "n.*28G>A",
"hgvs_p": null,
"transcript": "ENST00000549341.1",
"protein_id": "ENSP00000447392.1",
"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": "ENST00000549341.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "n.*28G>A",
"hgvs_p": null,
"transcript": "ENST00000299185.12",
"protein_id": "ENSP00000299185.8",
"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": "ENST00000299185.12"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "n.*28G>A",
"hgvs_p": null,
"transcript": "ENST00000549341.1",
"protein_id": "ENSP00000447392.1",
"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": "ENST00000549341.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"transcript": "NM_001387201.1",
"protein_id": "NP_001374130.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 555,
"cds_start": 599,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387201.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"transcript": "NM_001387205.1",
"protein_id": "NP_001374134.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 517,
"cds_start": 599,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387205.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"transcript": "NM_001387206.1",
"protein_id": "NP_001374135.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 517,
"cds_start": 599,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387206.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"transcript": "NM_001319311.2",
"protein_id": "NP_001306240.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 509,
"cds_start": 599,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319311.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"transcript": "NM_001387207.1",
"protein_id": "NP_001374136.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 496,
"cds_start": 599,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387207.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"transcript": "ENST00000873178.1",
"protein_id": "ENSP00000543237.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 496,
"cds_start": 599,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873178.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"transcript": "NM_001387208.1",
"protein_id": "NP_001374137.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 485,
"cds_start": 599,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387208.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Gly133Asp",
"transcript": "NM_001387209.1",
"protein_id": "NP_001374138.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 429,
"cds_start": 398,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387209.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Gly133Asp",
"transcript": "ENST00000920380.1",
"protein_id": "ENSP00000590439.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 429,
"cds_start": 398,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920380.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Gly11Asp",
"transcript": "NM_001387212.1",
"protein_id": "NP_001374141.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 309,
"cds_start": 32,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387212.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.32G>A",
"hgvs_p": "p.Gly11Asp",
"transcript": "NM_001387213.1",
"protein_id": "NP_001374142.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 307,
"cds_start": 32,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387213.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"transcript": "NM_152317.4",
"protein_id": "NP_689530.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 294,
"cds_start": 599,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152317.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "DEPDC4",
"gene_hgnc_id": 22952,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"transcript": "NM_001319310.2",
"protein_id": "NP_001306239.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 293,
"cds_start": 599,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319310.2"
},
{
"aa_ref": "G",
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}
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}