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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: 11-68041265-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68041265&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68041265,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_006019.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
"hgvs_p": null,
"transcript": "NM_006019.4",
"protein_id": "NP_006010.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": -4,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": "ENST00000265686.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
"hgvs_p": null,
"transcript": "ENST00000265686.8",
"protein_id": "ENSP00000265686.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": -4,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": "NM_006019.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
"hgvs_p": null,
"transcript": "NM_001440552.1",
"protein_id": "NP_001427481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": -4,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
"hgvs_p": null,
"transcript": "NM_001440553.1",
"protein_id": "NP_001427482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": -4,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
"hgvs_p": null,
"transcript": "NM_001440554.1",
"protein_id": "NP_001427483.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": -4,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
"hgvs_p": null,
"transcript": "NM_001440555.1",
"protein_id": "NP_001427484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 816,
"cds_start": -4,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
"hgvs_p": null,
"transcript": "NM_001440556.1",
"protein_id": "NP_001427485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 816,
"cds_start": -4,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
"hgvs_p": null,
"transcript": "ENST00000698255.1",
"protein_id": "ENSP00000513630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 813,
"cds_start": -4,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
"hgvs_p": null,
"transcript": "NM_001440557.1",
"protein_id": "NP_001427486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": -4,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
"hgvs_p": null,
"transcript": "NM_001440558.1",
"protein_id": "NP_001427487.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": -4,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
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"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
"hgvs_p": null,
"transcript": "NM_001440559.1",
"protein_id": "NP_001427488.1",
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
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"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
"hgvs_p": null,
"transcript": "NM_001440560.1",
"protein_id": "NP_001427489.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 2,
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"gene_symbol": "TCIRG1",
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"hgvs_c": "c.-4-3C>T",
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"transcript": "NM_001440561.1",
"protein_id": "NP_001427490.1",
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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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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
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"gene_symbol": "TCIRG1",
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"hgvs_c": "c.-4-3C>T",
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"transcript": "NM_001440562.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
"hgvs_p": null,
"transcript": "NM_001440563.1",
"protein_id": "NP_001427492.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 1,
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"gene_symbol": "TCIRG1",
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"hgvs_c": "c.-4-3C>T",
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"transcript": "NM_001440564.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
"hgvs_p": null,
"transcript": "NM_001440565.1",
"protein_id": "NP_001427494.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
"hgvs_p": null,
"transcript": "NM_001440566.1",
"protein_id": "NP_001427495.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
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"transcript": "NM_001440567.1",
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},
{
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"intron_rank": 1,
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"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
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"transcript": "NM_001440568.1",
"protein_id": "NP_001427497.1",
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},
{
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-4-3C>T",
"hgvs_p": null,
"transcript": "ENST00000698254.1",
"protein_id": "ENSP00000513629.1",
"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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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.-1253-3C>T",
"hgvs_p": null,
"transcript": "NM_001351059.2",
"protein_id": "NP_001337988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
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"cds_length": 1599,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Autosomal recessive osteopetrosis 1",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}