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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: 17-58529763-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=58529763&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 58529763,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000672673.2",
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1615-2785A>G",
"hgvs_p": null,
"transcript": "NM_001368771.2",
"protein_id": "NP_001355700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 996,
"cds_start": -4,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": "ENST00000672673.2",
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1615-2785A>G",
"hgvs_p": null,
"transcript": "ENST00000672673.2",
"protein_id": "ENSP00000500383.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 996,
"cds_start": -4,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": "NM_001368771.2",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.3+2198A>G",
"hgvs_p": null,
"transcript": "ENST00000317256.10",
"protein_id": "ENSP00000321071.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": -4,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1530,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.3+2198A>G",
"hgvs_p": null,
"transcript": "ENST00000426861.5",
"protein_id": "ENSP00000402348.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 274,
"cds_start": -4,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1906,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.3+2198A>G",
"hgvs_p": null,
"transcript": "ENST00000580809.5",
"protein_id": "ENSP00000464382.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": -4,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 952,
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.106-2785A>G",
"hgvs_p": null,
"transcript": "NM_001256782.2",
"protein_id": "NP_001243711.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1797,
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.106-2785A>G",
"hgvs_p": null,
"transcript": "ENST00000457347.6",
"protein_id": "ENSP00000402000.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1795,
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.106-2785A>G",
"hgvs_p": null,
"transcript": "ENST00000672699.1",
"protein_id": "ENSP00000500355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1795,
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.40-2785A>G",
"hgvs_p": null,
"transcript": "NM_001368772.2",
"protein_id": "NP_001355701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": -4,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1658,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.37-2785A>G",
"hgvs_p": null,
"transcript": "NM_001198713.2",
"protein_id": "NP_001185642.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
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"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.37-2785A>G",
"hgvs_p": null,
"transcript": "ENST00000412945.7",
"protein_id": "ENSP00000414779.3",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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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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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "SEPTIN4",
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"hgvs_c": "c.3+2198A>G",
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"transcript": "NM_080416.4",
"protein_id": "NP_536341.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.3+2198A>G",
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"transcript": "NM_080415.4",
"protein_id": "NP_536340.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "SEPTIN4",
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"hgvs_c": "c.75+1717A>G",
"hgvs_p": null,
"transcript": "ENST00000583291.1",
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},
{
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],
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"gene_symbol": "SEPTIN4",
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"hgvs_c": "c.40-2785A>G",
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"transcript": "ENST00000671766.1",
"protein_id": "ENSP00000500629.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "SEPTIN4",
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"hgvs_c": "c.75+1717A>G",
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"transcript": "ENST00000577729.5",
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},
{
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],
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"gene_symbol": "SEPTIN4",
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"hgvs_c": "c.3+1717A>G",
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"transcript": "ENST00000581607.1",
"protein_id": "ENSP00000464360.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "n.90+2198A>G",
"hgvs_p": null,
"transcript": "ENST00000577440.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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},
{
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"protein_coding": false,
"strand": true,
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4-AS1",
"gene_hgnc_id": 51345,
"hgvs_c": "n.358+3946T>C",
"hgvs_p": null,
"transcript": "ENST00000578022.2",
"protein_id": null,
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},
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],
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"gene_symbol": "SEPTIN4",
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"hgvs_c": "n.3+2198A>G",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "SEPTIN4",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4-AS1",
"gene_hgnc_id": 51345,
"hgvs_c": "n.260+3946T>C",
"hgvs_p": null,
"transcript": "ENST00000580589.6",
"protein_id": null,
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"aa_start": null,
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"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "n.147+2377A>G",
"hgvs_p": null,
"transcript": "ENST00000580740.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": null,
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"mane_select": null,
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},
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