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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: 8-124558488-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=124558488&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 124558488,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000518547.6",
"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": 10,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.1036-613A>G",
"hgvs_p": null,
"transcript": "NM_014751.6",
"protein_id": "NP_055566.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4994,
"mane_select": "ENST00000518547.6",
"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": 10,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.1036-613A>G",
"hgvs_p": null,
"transcript": "ENST00000518547.6",
"protein_id": "ENSP00000429064.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4994,
"mane_select": "NM_014751.6",
"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": 11,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.1155+225A>G",
"hgvs_p": null,
"transcript": "ENST00000378017.7",
"protein_id": "ENSP00000367256.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": -4,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4458,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.436-2134A>G",
"hgvs_p": null,
"transcript": "ENST00000431961.6",
"protein_id": "ENSP00000393606.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1711,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "n.309-613A>G",
"hgvs_p": null,
"transcript": "ENST00000523587.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1643,
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.1048-613A>G",
"hgvs_p": null,
"transcript": "NM_001282971.2",
"protein_id": "NP_001269900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": -4,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5006,
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.1048-613A>G",
"hgvs_p": null,
"transcript": "ENST00000325064.9",
"protein_id": "ENSP00000322804.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": -4,
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"cds_length": 2280,
"cdna_start": null,
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"cdna_length": 2777,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.1033-613A>G",
"hgvs_p": null,
"transcript": "NM_001363294.2",
"protein_id": "NP_001350223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": -4,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4991,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.1036-613A>G",
"hgvs_p": null,
"transcript": "NM_001363295.2",
"protein_id": "NP_001350224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
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"cdna_length": 4943,
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MTSS1",
"gene_hgnc_id": 20443,
"hgvs_c": "c.1167+225A>G",
"hgvs_p": null,
"transcript": "NM_001363296.2",
"protein_id": "NP_001350225.1",
"transcript_support_level": null,
"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": 15,
"intron_rank": 12,
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"gene_symbol": "MTSS1",
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"hgvs_c": "c.1164+225A>G",
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"transcript": "NM_001363297.2",
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},
{
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],
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"gene_symbol": "MTSS1",
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},
{
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],
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"gene_symbol": "MTSS1",
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],
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"gene_symbol": "MTSS1",
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"hgvs_c": "c.1048-2083A>G",
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},
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],
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},
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],
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},
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],
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"gene_symbol": "MTSS1",
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"transcript": "ENST00000524090.5",
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],
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],
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},
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],
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"gene_symbol": "NDUFB9",
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"hgvs_c": "c.408+11375T>C",
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"transcript": "ENST00000606244.2",
"protein_id": "ENSP00000497750.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "NDUFB9",
"gene_hgnc_id": 7704,
"hgvs_c": "n.409-9159T>C",
"hgvs_p": null,
"transcript": "ENST00000522532.6",
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],
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"splice_prediction_selected": "Benign",
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{
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"BP4_Strong"
],
"verdict": "Likely_benign",
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{
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"verdict": "Likely_benign",
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"inheritance_mode": "AR,Unknown",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}