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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: 2-159548987-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=159548987&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "BAZ2B",
"hgnc_id": 963,
"hgvs_c": "c.-3+6836G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_013450.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 48413,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8145,
"cdna_start": null,
"cds_end": null,
"cds_length": 6507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_013450.4",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392783.7",
"protein_coding": true,
"protein_id": "NP_038478.2",
"strand": false,
"transcript": "NM_013450.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8145,
"cdna_start": null,
"cds_end": null,
"cds_length": 6507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392783.7",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013450.4",
"protein_coding": true,
"protein_id": "ENSP00000376534.2",
"strand": false,
"transcript": "ENST00000392783.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2132,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8058,
"cdna_start": null,
"cds_end": null,
"cds_length": 6399,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392782.5",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376533.1",
"strand": false,
"transcript": "ENST00000392782.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6838,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000483316.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "n.252+6836G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000483316.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9000,
"cdna_start": null,
"cds_end": null,
"cds_length": 6507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911534.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-126-190G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581593.1",
"strand": false,
"transcript": "ENST00000911534.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7878,
"cdna_start": null,
"cds_end": null,
"cds_length": 6507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911538.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581597.1",
"strand": false,
"transcript": "ENST00000911538.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2160,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7026,
"cdna_start": null,
"cds_end": null,
"cds_length": 6483,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000718451.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520831.1",
"strand": false,
"transcript": "ENST00000718451.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2149,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8088,
"cdna_start": null,
"cds_end": null,
"cds_length": 6450,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001329857.2",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316786.1",
"strand": false,
"transcript": "NM_001329857.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2143,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7935,
"cdna_start": null,
"cds_end": null,
"cds_length": 6432,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001329858.2",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316787.1",
"strand": false,
"transcript": "NM_001329858.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2134,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8161,
"cdna_start": null,
"cds_end": null,
"cds_length": 6405,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911535.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581594.1",
"strand": false,
"transcript": "ENST00000911535.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_length": 8090,
"cdna_start": null,
"cds_end": null,
"cds_length": 6399,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001289975.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276904.1",
"strand": false,
"transcript": "NM_001289975.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7646,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 35,
"exon_rank": null,
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"feature": "ENST00000911537.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000581596.1",
"strand": false,
"transcript": "ENST00000911537.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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],
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"feature": "ENST00000911536.1",
"gene_hgnc_id": 963,
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"hgvs_c": "c.-3+6836G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000581595.1",
"strand": false,
"transcript": "ENST00000911536.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 640,
"cdna_start": null,
"cds_end": null,
"cds_length": 428,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000437839.5",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415613.1",
"strand": false,
"transcript": "ENST00000437839.5",
"transcript_support_level": 4
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 4,
"exon_rank": null,
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"feature": "ENST00000541068.6",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
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"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000441341.2",
"strand": false,
"transcript": "ENST00000541068.6",
"transcript_support_level": 4
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 6729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246488.3",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246545.2",
"strand": false,
"transcript": "XM_005246488.3",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7961,
"cdna_start": null,
"cds_end": null,
"cds_length": 6729,
"cds_start": null,
"consequences": [
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],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003920.2",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016859409.1",
"strand": false,
"transcript": "XM_017003920.2",
"transcript_support_level": null
},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 43,
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"feature": "XM_047444038.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
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"protein_coding": true,
"protein_id": "XP_047299994.1",
"strand": false,
"transcript": "XM_047444038.1",
"transcript_support_level": null
},
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"consequences": [
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],
"exon_count": 43,
"exon_rank": null,
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"feature": "XM_047444039.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047299995.1",
"strand": false,
"transcript": "XM_047444039.1",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444040.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299996.1",
"strand": false,
"transcript": "XM_047444040.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7856,
"cdna_start": null,
"cds_end": null,
"cds_length": 6729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444041.1",
"gene_hgnc_id": 963,
"gene_symbol": "BAZ2B",
"hgvs_c": "c.-3+6836G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299997.1",
"strand": false,
"transcript": "XM_047444041.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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