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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: 11-47328418-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47328418&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47328418,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001376571.1",
"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": 37,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4802-240C>A",
"hgvs_p": null,
"transcript": "NM_001376571.1",
"protein_id": "NP_001363500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1650,
"cds_start": null,
"cds_end": null,
"cds_length": 4953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000706887.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376571.1"
},
{
"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": 37,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4802-240C>A",
"hgvs_p": null,
"transcript": "ENST00000706887.1",
"protein_id": "ENSP00000516604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1650,
"cds_start": null,
"cds_end": null,
"cds_length": 4953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001376571.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706887.1"
},
{
"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": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4793-240C>A",
"hgvs_p": null,
"transcript": "ENST00000311027.9",
"protein_id": "ENSP00000310933.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1647,
"cds_start": null,
"cds_end": null,
"cds_length": 4944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311027.9"
},
{
"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": 34,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4676-240C>A",
"hgvs_p": null,
"transcript": "ENST00000349238.7",
"protein_id": "ENSP00000304505.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1608,
"cds_start": null,
"cds_end": null,
"cds_length": 4827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349238.7"
},
{
"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": 33,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4616-240C>A",
"hgvs_p": null,
"transcript": "ENST00000342922.8",
"protein_id": "ENSP00000343902.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1588,
"cds_start": null,
"cds_end": null,
"cds_length": 4767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342922.8"
},
{
"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": 33,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4613-240C>A",
"hgvs_p": null,
"transcript": "ENST00000402192.6",
"protein_id": "ENSP00000384287.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1587,
"cds_start": null,
"cds_end": null,
"cds_length": 4764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402192.6"
},
{
"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": 35,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4723-240C>A",
"hgvs_p": null,
"transcript": "ENST00000395336.7",
"protein_id": "ENSP00000378745.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": null,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395336.7"
},
{
"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": 34,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4547-240C>A",
"hgvs_p": null,
"transcript": "ENST00000407859.7",
"protein_id": "ENSP00000384204.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1565,
"cds_start": null,
"cds_end": null,
"cds_length": 4698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407859.7"
},
{
"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": 33,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4487-240C>A",
"hgvs_p": null,
"transcript": "ENST00000402799.5",
"protein_id": "ENSP00000385585.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1545,
"cds_start": null,
"cds_end": null,
"cds_length": 4638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402799.5"
},
{
"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": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4417-240C>A",
"hgvs_p": null,
"transcript": "ENST00000406482.5",
"protein_id": "ENSP00000384435.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1479,
"cds_start": null,
"cds_end": null,
"cds_length": 4440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406482.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "n.277C>A",
"hgvs_p": null,
"transcript": "ENST00000469699.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000469699.1"
},
{
"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": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4793-240C>A",
"hgvs_p": null,
"transcript": "NM_003682.4",
"protein_id": "NP_003673.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1647,
"cds_start": null,
"cds_end": null,
"cds_length": 4944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003682.4"
},
{
"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": 37,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4790-240C>A",
"hgvs_p": null,
"transcript": "NM_001376572.1",
"protein_id": "NP_001363501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1646,
"cds_start": null,
"cds_end": null,
"cds_length": 4941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376572.1"
},
{
"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": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4781-240C>A",
"hgvs_p": null,
"transcript": "NM_001376573.1",
"protein_id": "NP_001363502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1643,
"cds_start": null,
"cds_end": null,
"cds_length": 4932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376573.1"
},
{
"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": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4781-240C>A",
"hgvs_p": null,
"transcript": "ENST00000945134.1",
"protein_id": "ENSP00000615193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1643,
"cds_start": null,
"cds_end": null,
"cds_length": 4932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945134.1"
},
{
"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": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4748-240C>A",
"hgvs_p": null,
"transcript": "NM_001376574.1",
"protein_id": "NP_001363503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1632,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376574.1"
},
{
"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": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4742-240C>A",
"hgvs_p": null,
"transcript": "NM_001376575.1",
"protein_id": "NP_001363504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1630,
"cds_start": null,
"cds_end": null,
"cds_length": 4893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376575.1"
},
{
"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": 35,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4739-240C>A",
"hgvs_p": null,
"transcript": "ENST00000908695.1",
"protein_id": "ENSP00000578754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1629,
"cds_start": null,
"cds_end": null,
"cds_length": 4890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908695.1"
},
{
"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": 35,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4736-240C>A",
"hgvs_p": null,
"transcript": "ENST00000945137.1",
"protein_id": "ENSP00000615196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945137.1"
},
{
"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": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4730-240C>A",
"hgvs_p": null,
"transcript": "NM_001376576.1",
"protein_id": "NP_001363505.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1626,
"cds_start": null,
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"cds_length": 4881,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376576.1"
},
{
"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": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4730-240C>A",
"hgvs_p": null,
"transcript": "NM_001376577.1",
"protein_id": "NP_001363506.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1626,
"cds_start": null,
"cds_end": null,
"cds_length": 4881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376577.1"
},
{
"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": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "MADD",
"gene_hgnc_id": 6766,
"hgvs_c": "c.4730-240C>A",
"hgvs_p": null,
"transcript": "ENST00000634938.2",
"protein_id": "ENSP00000489300.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1626,
"cds_start": null,
"cds_end": null,
"cds_length": 4881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634938.2"
},
{
"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": 35,
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