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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: 11-64772163-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64772163&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64772163,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000377390.8",
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.236+1267C>T",
"hgvs_p": null,
"transcript": "NM_004630.4",
"protein_id": "NP_004621.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": -4,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": "ENST00000377390.8",
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.236+1267C>T",
"hgvs_p": null,
"transcript": "ENST00000377390.8",
"protein_id": "ENSP00000366607.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": -4,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": "NM_004630.4",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.611+1267C>T",
"hgvs_p": null,
"transcript": "ENST00000377387.5",
"protein_id": "ENSP00000366604.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2947,
"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": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.236+1267C>T",
"hgvs_p": null,
"transcript": "ENST00000334944.9",
"protein_id": "ENSP00000334414.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3094,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.236+1267C>T",
"hgvs_p": null,
"transcript": "ENST00000377394.7",
"protein_id": "ENSP00000366611.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": -4,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2854,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.236+1267C>T",
"hgvs_p": null,
"transcript": "ENST00000227503.13",
"protein_id": "ENSP00000227503.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": -4,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2850,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "n.161-1755C>T",
"hgvs_p": null,
"transcript": "ENST00000448404.5",
"protein_id": "ENSP00000407962.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2778,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.611+1267C>T",
"hgvs_p": null,
"transcript": "NM_001378957.1",
"protein_id": "NP_001365886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": -4,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3657,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.611+1267C>T",
"hgvs_p": null,
"transcript": "ENST00000681407.1",
"protein_id": "ENSP00000505779.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 764,
"cds_start": -4,
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"cds_length": 2295,
"cdna_start": null,
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"cdna_length": 3631,
"mane_select": null,
"mane_plus": null,
"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": 14,
"intron_rank": 3,
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"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.611+1267C>T",
"hgvs_p": null,
"transcript": "NM_001378956.1",
"protein_id": "NP_001365885.1",
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 3,
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"gene_symbol": "SF1",
"gene_hgnc_id": 12950,
"hgvs_c": "c.611+1267C>T",
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"transcript": "ENST00000706684.1",
"protein_id": "ENSP00000516498.1",
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},
{
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],
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"gene_symbol": "SF1",
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},
{
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],
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"gene_symbol": "SF1",
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"transcript": "NM_001440581.1",
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},
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],
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"gene_symbol": "SF1",
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],
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},
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],
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"gene_symbol": "SF1",
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"hgvs_c": "c.158+1267C>T",
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},
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],
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"gene_symbol": "SF1",
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"hgvs_c": "c.236+1267C>T",
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"transcript": "NM_001346363.2",
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],
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],
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],
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"gene_symbol": "SF1",
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"hgvs_c": "c.158+1267C>T",
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"transcript": "NM_001440584.1",
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},
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"strand": false,
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],
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"intron_rank": 4,
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"gene_symbol": "SF1",
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}