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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: 1-223259617-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=223259617&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 223259617,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000366878.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUSD4",
"gene_hgnc_id": 25470,
"hgvs_c": "c.724+5013A>G",
"hgvs_p": null,
"transcript": "NM_017982.4",
"protein_id": "NP_060452.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": "ENST00000366878.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUSD4",
"gene_hgnc_id": 25470,
"hgvs_c": "c.724+5013A>G",
"hgvs_p": null,
"transcript": "ENST00000366878.9",
"protein_id": "ENSP00000355843.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": "NM_017982.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SUSD4",
"gene_hgnc_id": 25470,
"hgvs_c": "c.634+5013A>G",
"hgvs_p": null,
"transcript": "ENST00000608996.5",
"protein_id": "ENSP00000477432.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": -4,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SUSD4",
"gene_hgnc_id": 25470,
"hgvs_c": "c.511+5013A>G",
"hgvs_p": null,
"transcript": "ENST00000484758.6",
"protein_id": "ENSP00000477374.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUSD4",
"gene_hgnc_id": 25470,
"hgvs_c": "c.724+5013A>G",
"hgvs_p": null,
"transcript": "ENST00000344029.6",
"protein_id": "ENSP00000339926.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": -4,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SUSD4",
"gene_hgnc_id": 25470,
"hgvs_c": "c.940+5013A>G",
"hgvs_p": null,
"transcript": "NM_001410929.1",
"protein_id": "NP_001397858.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SUSD4",
"gene_hgnc_id": 25470,
"hgvs_c": "c.940+5013A>G",
"hgvs_p": null,
"transcript": "ENST00000681285.1",
"protein_id": "ENSP00000505301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SUSD4",
"gene_hgnc_id": 25470,
"hgvs_c": "c.841+5013A>G",
"hgvs_p": null,
"transcript": "ENST00000680429.1",
"protein_id": "ENSP00000504955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SUSD4",
"gene_hgnc_id": 25470,
"hgvs_c": "c.724+5013A>G",
"hgvs_p": null,
"transcript": "NM_001437664.1",
"protein_id": "NP_001424593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
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"cdna_length": 3081,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SUSD4",
"gene_hgnc_id": 25470,
"hgvs_c": "c.724+5013A>G",
"hgvs_p": null,
"transcript": "ENST00000343846.7",
"protein_id": "ENSP00000344219.3",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 490,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "SUSD4",
"gene_hgnc_id": 25470,
"hgvs_c": "c.724+5013A>G",
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"transcript": "ENST00000681305.1",
"protein_id": "ENSP00000505262.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "SUSD4",
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},
{
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],
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"gene_symbol": "SUSD4",
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"hgvs_c": "c.724+5013A>G",
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"transcript": "ENST00000494793.6",
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},
{
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],
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"gene_symbol": "SUSD4",
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"hgvs_c": "c.940+5013A>G",
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],
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},
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],
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"hgvs_c": "n.*700+5013A>G",
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},
{
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],
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"gene_symbol": "SUSD4",
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"hgvs_c": "n.724+5013A>G",
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"transcript": "ENST00000679975.1",
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],
"exon_rank": null,
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],
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"gene_symbol": "SUSD4",
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"transcript": "XM_017001586.2",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "SUSD4",
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"hgvs_c": "c.724+5013A>G",
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"transcript": "XM_005273169.2",
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}
],
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}