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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: 12-68809744-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=68809744&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 68809744,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000258149.11",
"consequences": [
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MDM2",
"gene_hgnc_id": 6973,
"hgvs_c": "c.99+452T>A",
"hgvs_p": null,
"transcript": "NM_002392.6",
"protein_id": "NP_002383.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": -4,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7490,
"mane_select": "ENST00000258149.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MDM2",
"gene_hgnc_id": 6973,
"hgvs_c": "c.99+452T>A",
"hgvs_p": null,
"transcript": "ENST00000258149.11",
"protein_id": "ENSP00000258149.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": -4,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7490,
"mane_select": "NM_002392.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MDM2",
"gene_hgnc_id": 6973,
"hgvs_c": "c.81+452T>A",
"hgvs_p": null,
"transcript": "ENST00000539479.6",
"protein_id": "ENSP00000444430.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 491,
"cds_start": -4,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MDM2",
"gene_hgnc_id": 6973,
"hgvs_c": "c.81+452T>A",
"hgvs_p": null,
"transcript": "ENST00000350057.9",
"protein_id": "ENSP00000266624.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": -4,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MDM2",
"gene_hgnc_id": 6973,
"hgvs_c": "c.99+452T>A",
"hgvs_p": null,
"transcript": "ENST00000258148.11",
"protein_id": "ENSP00000258148.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": -4,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MDM2",
"gene_hgnc_id": 6973,
"hgvs_c": "c.81+452T>A",
"hgvs_p": null,
"transcript": "ENST00000299252.8",
"protein_id": "ENSP00000299252.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": -4,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MDM2",
"gene_hgnc_id": 6973,
"hgvs_c": "c.81+452T>A",
"hgvs_p": null,
"transcript": "ENST00000360430.6",
"protein_id": "ENSP00000353611.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": -4,
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"cds_length": 891,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MDM2",
"gene_hgnc_id": 6973,
"hgvs_c": "c.66+452T>A",
"hgvs_p": null,
"transcript": "ENST00000348801.7",
"protein_id": "ENSP00000335096.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": -4,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MDM2",
"gene_hgnc_id": 6973,
"hgvs_c": "c.81+452T>A",
"hgvs_p": null,
"transcript": "ENST00000393410.5",
"protein_id": "ENSP00000377062.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": -4,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "MDM2",
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"hgvs_c": "c.81+452T>A",
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"transcript": "ENST00000393413.7",
"protein_id": "ENSP00000377065.3",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "MDM2",
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"hgvs_c": "c.81+452T>A",
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"transcript": "ENST00000523991.5",
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},
{
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],
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},
{
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],
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},
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],
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],
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},
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],
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},
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],
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"transcript": "ENST00000540352.5",
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},
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],
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},
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],
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"hgvs_c": "c.81+452T>A",
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},
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