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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: X-47456440-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47456440&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 47456440,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000684689.1",
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.73-42A>G",
"hgvs_p": null,
"transcript": "NM_001324144.2",
"protein_id": "NP_001311073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": -4,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4999,
"mane_select": "ENST00000684689.1",
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.73-42A>G",
"hgvs_p": null,
"transcript": "ENST00000684689.1",
"protein_id": "ENSP00000508254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": -4,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4999,
"mane_select": "NM_001324144.2",
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.73-42A>G",
"hgvs_p": null,
"transcript": "ENST00000313116.11",
"protein_id": "ENSP00000315173.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": -4,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4297,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.73-42A>G",
"hgvs_p": null,
"transcript": "ENST00000377065.8",
"protein_id": "ENSP00000366265.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": -4,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.63-2A>G",
"hgvs_p": null,
"transcript": "ENST00000432977.1",
"protein_id": "ENSP00000390385.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": -4,
"cds_end": null,
"cds_length": 536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 613,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "n.226-42A>G",
"hgvs_p": null,
"transcript": "ENST00000465311.1",
"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": 659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.159-2A>G",
"hgvs_p": null,
"transcript": "NM_001324155.1",
"protein_id": "NP_001311084.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 821,
"cds_start": -4,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4907,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.159-26A>G",
"hgvs_p": null,
"transcript": "NM_001324154.1",
"protein_id": "NP_001311083.1",
"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": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.63-2A>G",
"hgvs_p": null,
"transcript": "NM_001324151.2",
"protein_id": "NP_001311080.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 789,
"cds_start": -4,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.63-2A>G",
"hgvs_p": null,
"transcript": "NM_001324153.2",
"protein_id": "NP_001311082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 789,
"cds_start": -4,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4949,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.63-26A>G",
"hgvs_p": null,
"transcript": "NM_001324142.2",
"protein_id": "NP_001311071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 781,
"cds_start": -4,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4925,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.63-26A>G",
"hgvs_p": null,
"transcript": "NM_001324148.2",
"protein_id": "NP_001311077.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 781,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5015,
"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,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.73-42A>G",
"hgvs_p": null,
"transcript": "NM_001324140.2",
"protein_id": "NP_001311069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"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": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.73-42A>G",
"hgvs_p": null,
"transcript": "NM_001324147.2",
"protein_id": "NP_001311076.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.73-42A>G",
"hgvs_p": null,
"transcript": "NM_001324150.2",
"protein_id": "NP_001311079.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 779,
"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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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.73-42A>G",
"hgvs_p": null,
"transcript": "NM_007130.4",
"protein_id": "NP_009061.1",
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},
{
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],
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.73-42A>G",
"hgvs_p": null,
"transcript": "NM_153380.3",
"protein_id": "NP_700359.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 779,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.63-26A>G",
"hgvs_p": null,
"transcript": "NM_001324156.1",
"protein_id": "NP_001311085.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 745,
"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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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.73-42A>G",
"hgvs_p": null,
"transcript": "NM_001324157.1",
"protein_id": "NP_001311086.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.-186-42A>G",
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"transcript": "NM_001324139.2",
"protein_id": "NP_001311068.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "ZNF41",
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"hgvs_c": "c.-186-42A>G",
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"transcript": "NM_001324141.2",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.-186-42A>G",
"hgvs_p": null,
"transcript": "NM_001324143.2",
"protein_id": "NP_001311072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 693,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4666,
"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,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF41",
"gene_hgnc_id": 13107,
"hgvs_c": "c.-202-26A>G",
"hgvs_p": null,
"transcript": "NM_001324145.2",
"protein_id": "NP_001311074.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 693,
"cds_start": -4,
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"cdna_start": null,
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{
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{
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.58,
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"dbscsnv_ada_prediction": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}