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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: 2-118967393-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=118967393&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 118967393,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_006770.4",
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.98-1767C>G",
"hgvs_p": null,
"transcript": "NM_006770.4",
"protein_id": "NP_006761.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": null,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327097.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006770.4"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.98-1767C>G",
"hgvs_p": null,
"transcript": "ENST00000327097.5",
"protein_id": "ENSP00000318916.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": null,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006770.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327097.5"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.98-1767C>G",
"hgvs_p": null,
"transcript": "ENST00000874357.1",
"protein_id": "ENSP00000544416.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": null,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874357.1"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.98-1767C>G",
"hgvs_p": null,
"transcript": "ENST00000958830.1",
"protein_id": "ENSP00000628889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": null,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958830.1"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.98-1767C>G",
"hgvs_p": null,
"transcript": "ENST00000874354.1",
"protein_id": "ENSP00000544413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": null,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874354.1"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.98-1737C>G",
"hgvs_p": null,
"transcript": "ENST00000874358.1",
"protein_id": "ENSP00000544417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": null,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874358.1"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.98-1767C>G",
"hgvs_p": null,
"transcript": "ENST00000958823.1",
"protein_id": "ENSP00000628882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": null,
"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": "ENST00000958823.1"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.98-1767C>G",
"hgvs_p": null,
"transcript": "ENST00000958825.1",
"protein_id": "ENSP00000628884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": null,
"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": "ENST00000958825.1"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.98-1767C>G",
"hgvs_p": null,
"transcript": "ENST00000958829.1",
"protein_id": "ENSP00000628888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": null,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958829.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.98-1767C>G",
"hgvs_p": null,
"transcript": "ENST00000874356.1",
"protein_id": "ENSP00000544415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": null,
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"cds_length": 1551,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874356.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.98-1767C>G",
"hgvs_p": null,
"transcript": "ENST00000874351.1",
"protein_id": "ENSP00000544410.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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},
{
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],
"exon_rank": null,
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"gene_symbol": "MARCO",
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"transcript": "ENST00000874349.1",
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"feature": "ENST00000874349.1"
},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "MARCO",
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"transcript": "ENST00000874352.1",
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"feature": "ENST00000874352.1"
},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "MARCO",
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},
{
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],
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"gene_symbol": "MARCO",
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"hgvs_c": "c.98-1767C>G",
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"transcript": "ENST00000874359.1",
"protein_id": "ENSP00000544418.1",
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"feature": "ENST00000874359.1"
},
{
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],
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"gene_symbol": "MARCO",
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"hgvs_c": "c.98-1767C>G",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "MARCO",
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"hgvs_c": "c.98-1767C>G",
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"transcript": "ENST00000958833.1",
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},
{
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"protein_coding": true,
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],
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"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "MARCO",
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"hgvs_c": "c.98-1767C>G",
"hgvs_p": null,
"transcript": "ENST00000958826.1",
"protein_id": "ENSP00000628885.1",
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"transcript": "ENST00000958828.1",
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},
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],
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"gene_symbol": "MARCO",
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},
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],
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"biotype": "protein_coding",
"feature": "ENST00000874355.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "MARCO",
"gene_hgnc_id": 6895,
"hgvs_c": "c.98-1767C>G",
"hgvs_p": null,
"transcript": "ENST00000958831.1",
"protein_id": "ENSP00000628890.1",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958831.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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}