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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: 6-127147129-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=127147129&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 127147129,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000356698.9",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RSPO3",
"gene_hgnc_id": 20866,
"hgvs_c": "c.98-1519A>C",
"hgvs_p": null,
"transcript": "NM_032784.5",
"protein_id": "NP_116173.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": -4,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4815,
"mane_select": "ENST00000356698.9",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RSPO3",
"gene_hgnc_id": 20866,
"hgvs_c": "c.98-1519A>C",
"hgvs_p": null,
"transcript": "ENST00000356698.9",
"protein_id": "ENSP00000349131.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": -4,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4815,
"mane_select": "NM_032784.5",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RSPO3",
"gene_hgnc_id": 20866,
"hgvs_c": "c.98-1519A>C",
"hgvs_p": null,
"transcript": "ENST00000368317.3",
"protein_id": "ENSP00000357300.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": -4,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RSPO3",
"gene_hgnc_id": 20866,
"hgvs_c": "n.143-1519A>C",
"hgvs_p": null,
"transcript": "ENST00000485757.1",
"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": 526,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293110",
"gene_hgnc_id": null,
"hgvs_c": "n.401+30187T>G",
"hgvs_p": null,
"transcript": "ENST00000650648.1",
"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": 1842,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293110",
"gene_hgnc_id": null,
"hgvs_c": "n.473+30187T>G",
"hgvs_p": null,
"transcript": "ENST00000650684.1",
"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": 3632,
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293110",
"gene_hgnc_id": null,
"hgvs_c": "n.440+30187T>G",
"hgvs_p": null,
"transcript": "ENST00000650727.1",
"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": 4898,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293110",
"gene_hgnc_id": null,
"hgvs_c": "n.473-21238T>G",
"hgvs_p": null,
"transcript": "ENST00000650777.1",
"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": 1677,
"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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293110",
"gene_hgnc_id": null,
"hgvs_c": "n.448+30187T>G",
"hgvs_p": null,
"transcript": "ENST00000650823.1",
"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": 1626,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293110",
"gene_hgnc_id": null,
"hgvs_c": "n.440+30187T>G",
"hgvs_p": null,
"transcript": "ENST00000650841.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "ENSG00000293110",
"gene_hgnc_id": null,
"hgvs_c": "n.467+30187T>G",
"hgvs_p": null,
"transcript": "ENST00000650899.1",
"protein_id": null,
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"aa_start": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 3,
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"gene_symbol": "ENSG00000293110",
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"hgvs_c": "n.471+30187T>G",
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"transcript": "ENST00000651038.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 4,
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"gene_symbol": "ENSG00000293110",
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},
{
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],
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"gene_symbol": "ENSG00000293110",
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},
{
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],
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},
{
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],
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"gene_symbol": "ENSG00000293110",
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},
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],
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],
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],
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"intron_rank": 3,
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"gene_symbol": "ENSG00000293110",
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],
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],
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},
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],
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000293110",
"gene_hgnc_id": null,
"hgvs_c": "n.91+30187T>G",
"hgvs_p": null,
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"protein_id": null,
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},
{
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"strand": false,
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],
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"exon_count": 7,
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}