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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: 8-30394110-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=30394110&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 30394110,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000397323.9",
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBPMS",
"gene_hgnc_id": 19097,
"hgvs_c": "c.66+8952C>T",
"hgvs_p": null,
"transcript": "NM_001008710.3",
"protein_id": "NP_001008710.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2874,
"mane_select": "ENST00000397323.9",
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBPMS",
"gene_hgnc_id": 19097,
"hgvs_c": "c.66+8952C>T",
"hgvs_p": null,
"transcript": "ENST00000397323.9",
"protein_id": "ENSP00000380486.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2874,
"mane_select": "NM_001008710.3",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBPMS",
"gene_hgnc_id": 19097,
"hgvs_c": "c.66+8952C>T",
"hgvs_p": null,
"transcript": "ENST00000339877.8",
"protein_id": "ENSP00000340176.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1341,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBPMS",
"gene_hgnc_id": 19097,
"hgvs_c": "c.66+8952C>T",
"hgvs_p": null,
"transcript": "ENST00000287771.9",
"protein_id": "ENSP00000287771.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": -4,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2974,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBPMS",
"gene_hgnc_id": 19097,
"hgvs_c": "c.66+8952C>T",
"hgvs_p": null,
"transcript": "ENST00000320203.8",
"protein_id": "ENSP00000318102.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3110,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBPMS",
"gene_hgnc_id": 19097,
"hgvs_c": "c.66+8952C>T",
"hgvs_p": null,
"transcript": "NM_001438067.1",
"protein_id": "NP_001424996.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": -4,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2084,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBPMS",
"gene_hgnc_id": 19097,
"hgvs_c": "c.66+8952C>T",
"hgvs_p": null,
"transcript": "ENST00000517860.5",
"protein_id": "ENSP00000428675.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": -4,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1076,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBPMS",
"gene_hgnc_id": 19097,
"hgvs_c": "c.66+8952C>T",
"hgvs_p": null,
"transcript": "NM_001008712.3",
"protein_id": "NP_001008712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1308,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBPMS",
"gene_hgnc_id": 19097,
"hgvs_c": "c.66+8952C>T",
"hgvs_p": null,
"transcript": "NM_001008711.3",
"protein_id": "NP_001008711.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": -4,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2960,
"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,
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"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "RBPMS",
"gene_hgnc_id": 19097,
"hgvs_c": "c.66+8952C>T",
"hgvs_p": null,
"transcript": "NM_006867.4",
"protein_id": "NP_006858.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "RBPMS",
"gene_hgnc_id": 19097,
"hgvs_c": "c.66+8952C>T",
"hgvs_p": null,
"transcript": "NM_001438566.1",
"protein_id": "NP_001425495.1",
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"cds_start": -4,
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},
{
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],
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"transcript": "ENST00000519647.5",
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},
{
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],
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"gene_symbol": "RBPMS",
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"hgvs_c": "c.-247+8720C>T",
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"transcript": "ENST00000520161.5",
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},
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],
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"gene_symbol": "RBPMS",
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"hgvs_c": "c.-247+6992C>T",
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],
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "RBPMS",
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"hgvs_c": "c.66+8952C>T",
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},
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"hgvs_c": "c.66+8952C>T",
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"transcript": "XM_017012981.3",
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},
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],
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"gene_symbol": "RBPMS",
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"hgvs_c": "c.66+8952C>T",
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"transcript": "XM_017012982.2",
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},
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],
"exon_rank": null,
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],
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},
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],
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"gene_symbol": "RBPMS",
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"hgvs_c": "c.66+8952C>T",
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"transcript": "XM_047421277.1",
"protein_id": "XP_047277233.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBPMS",
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"hgvs_c": "c.66+8952C>T",
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"transcript": "XM_017012989.3",
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{
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"verdict": "Likely_benign",
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"clinvar_disease": "",
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"clinvar_review_status": "",
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}
],
"message": null
}