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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: 2-24298897-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=24298897&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 24298897,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000355123.9",
"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": 40,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.1345-83G>A",
"hgvs_p": null,
"transcript": "NM_006277.3",
"protein_id": "NP_006268.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1697,
"cds_start": -4,
"cds_end": null,
"cds_length": 5094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6122,
"mane_select": "ENST00000355123.9",
"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": 40,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.1345-83G>A",
"hgvs_p": null,
"transcript": "ENST00000355123.9",
"protein_id": "ENSP00000347244.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1697,
"cds_start": -4,
"cds_end": null,
"cds_length": 5094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6122,
"mane_select": "NM_006277.3",
"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": 39,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.1345-83G>A",
"hgvs_p": null,
"transcript": "ENST00000361999.7",
"protein_id": "ENSP00000354561.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1670,
"cds_start": -4,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5814,
"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": 30,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.1345-83G>A",
"hgvs_p": null,
"transcript": "ENST00000406921.7",
"protein_id": "ENSP00000384499.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1249,
"cds_start": -4,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4563,
"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": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.1420-83G>A",
"hgvs_p": null,
"transcript": "ENST00000412011.5",
"protein_id": "ENSP00000391224.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": -4,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2066,
"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": 41,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.1303-83G>A",
"hgvs_p": null,
"transcript": "NM_001348181.2",
"protein_id": "NP_001335110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1683,
"cds_start": -4,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6189,
"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": 39,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.1345-83G>A",
"hgvs_p": null,
"transcript": "NM_019595.4",
"protein_id": "NP_062541.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1670,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 6041,
"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": 39,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.1345-83G>A",
"hgvs_p": null,
"transcript": "NM_001348182.2",
"protein_id": "NP_001335111.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1657,
"cds_start": -4,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6002,
"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": 30,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.1345-83G>A",
"hgvs_p": null,
"transcript": "NM_147152.3",
"protein_id": "NP_671494.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1249,
"cds_start": -4,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.1345-83G>A",
"hgvs_p": null,
"transcript": "NM_001348185.2",
"protein_id": "NP_001335114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1179,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 29,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.1345-83G>A",
"hgvs_p": null,
"transcript": "NM_001348183.2",
"protein_id": "NP_001335112.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "ITSN2",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ITSN2",
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"hgvs_c": "c.1303-83G>A",
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"transcript": "NM_001348184.2",
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},
{
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],
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"gene_symbol": "ITSN2",
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"hgvs_c": "c.1345-83G>A",
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},
{
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],
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"gene_symbol": "ITSN2",
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"transcript": "XM_024452931.2",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "ITSN2",
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"hgvs_c": "c.1345-83G>A",
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},
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],
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"gene_symbol": "ITSN2",
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"hgvs_c": "c.1345-83G>A",
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"protein_id": "XP_024308701.1",
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},
{
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],
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"intron_rank": 12,
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"gene_symbol": "ITSN2",
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"hgvs_c": "c.1303-83G>A",
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"transcript": "XM_024452932.2",
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},
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],
"exon_rank": null,
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"gene_symbol": "ITSN2",
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"hgvs_c": "c.1303-83G>A",
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},
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],
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},
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"consequences": [
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],
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"gene_symbol": "ITSN2",
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"hgvs_c": "c.1345-83G>A",
"hgvs_p": null,
"transcript": "XM_047444583.1",
"protein_id": "XP_047300539.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ITSN2",
"gene_hgnc_id": 6184,
"hgvs_c": "c.1345-83G>A",
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"transcript": "XM_047444586.1",
"protein_id": "XP_047300542.1",
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}