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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: 2-230240931-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=230240931&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 230240931,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000392045.8",
"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": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SP140",
"gene_hgnc_id": 17133,
"hgvs_c": "c.407-473C>T",
"hgvs_p": null,
"transcript": "NM_007237.5",
"protein_id": "NP_009168.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": -4,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": "ENST00000392045.8",
"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": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SP140",
"gene_hgnc_id": 17133,
"hgvs_c": "c.407-473C>T",
"hgvs_p": null,
"transcript": "ENST00000392045.8",
"protein_id": "ENSP00000375899.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": -4,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": "NM_007237.5",
"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": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SP140",
"gene_hgnc_id": 17133,
"hgvs_c": "c.407-473C>T",
"hgvs_p": null,
"transcript": "ENST00000420434.7",
"protein_id": "ENSP00000398210.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 840,
"cds_start": -4,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3169,
"mane_select": null,
"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": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SP140",
"gene_hgnc_id": 17133,
"hgvs_c": "c.407-473C>T",
"hgvs_p": null,
"transcript": "ENST00000343805.10",
"protein_id": "ENSP00000342096.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SP140",
"gene_hgnc_id": 17133,
"hgvs_c": "c.407-473C>T",
"hgvs_p": null,
"transcript": "ENST00000417495.7",
"protein_id": "ENSP00000393618.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 753,
"cds_start": -4,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SP140",
"gene_hgnc_id": 17133,
"hgvs_c": "c.407-473C>T",
"hgvs_p": null,
"transcript": "NM_001278451.2",
"protein_id": "NP_001265380.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 840,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "SP140",
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"hgvs_c": "c.407-473C>T",
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"transcript": "NM_001278452.2",
"protein_id": "NP_001265381.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 3,
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"gene_symbol": "SP140",
"gene_hgnc_id": 17133,
"hgvs_c": "c.407-473C>T",
"hgvs_p": null,
"transcript": "NM_001278453.2",
"protein_id": "NP_001265382.1",
"transcript_support_level": null,
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"aa_length": 753,
"cds_start": -4,
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"cds_length": 2262,
"cdna_start": null,
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"cdna_length": 2902,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
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"gene_symbol": "SP140",
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"hgvs_c": "c.407-473C>T",
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"transcript": "XM_006712223.4",
"protein_id": "XP_006712286.1",
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},
{
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],
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],
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