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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: 7-107617676-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107617676&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 107617676,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000005259.9",
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BCAP29",
"gene_hgnc_id": 24131,
"hgvs_c": "c.691-652T>C",
"hgvs_p": null,
"transcript": "NM_018844.4",
"protein_id": "NP_061332.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": -4,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": "ENST00000005259.9",
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BCAP29",
"gene_hgnc_id": 24131,
"hgvs_c": "c.691-652T>C",
"hgvs_p": null,
"transcript": "ENST00000005259.9",
"protein_id": "ENSP00000005259.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": -4,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": "NM_018844.4",
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DUS4L-BCAP29",
"gene_hgnc_id": 54422,
"hgvs_c": "c.1411-652T>C",
"hgvs_p": null,
"transcript": "ENST00000673665.1",
"protein_id": "ENSP00000501082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": -4,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7127,
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DUS4L-BCAP29",
"gene_hgnc_id": 54422,
"hgvs_c": "c.1490-652T>C",
"hgvs_p": null,
"transcript": "NM_001371364.2",
"protein_id": "NP_001358293.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 588,
"cds_start": -4,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6828,
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "DUS4L-BCAP29",
"gene_hgnc_id": 54422,
"hgvs_c": "c.1490-652T>C",
"hgvs_p": null,
"transcript": "ENST00000673757.1",
"protein_id": "ENSP00000501026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 588,
"cds_start": -4,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3561,
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DUS4L-BCAP29",
"gene_hgnc_id": 54422,
"hgvs_c": "c.1411-652T>C",
"hgvs_p": null,
"transcript": "NM_001371365.2",
"protein_id": "NP_001358294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": -4,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6787,
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DUS4L-BCAP29",
"gene_hgnc_id": 54422,
"hgvs_c": "c.1411-652T>C",
"hgvs_p": null,
"transcript": "NM_001371366.2",
"protein_id": "NP_001358295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": -4,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6749,
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DUS4L-BCAP29",
"gene_hgnc_id": 54422,
"hgvs_c": "c.1411-652T>C",
"hgvs_p": null,
"transcript": "NM_001371367.2",
"protein_id": "NP_001358296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": -4,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6660,
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DUS4L-BCAP29",
"gene_hgnc_id": 54422,
"hgvs_c": "c.1411-652T>C",
"hgvs_p": null,
"transcript": "ENST00000673720.1",
"protein_id": "ENSP00000501003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": -4,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6660,
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DUS4L-BCAP29",
"gene_hgnc_id": 54422,
"hgvs_c": "c.1411-652T>C",
"hgvs_p": null,
"transcript": "ENST00000673780.1",
"protein_id": "ENSP00000501094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": -4,
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"cds_length": 1446,
"cdna_start": null,
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"cdna_length": 6749,
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DUS4L-BCAP29",
"gene_hgnc_id": 54422,
"hgvs_c": "c.1411-652T>C",
"hgvs_p": null,
"transcript": "ENST00000673970.1",
"protein_id": "ENSP00000501195.1",
"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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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DUS4L-BCAP29",
"gene_hgnc_id": 54422,
"hgvs_c": "c.1048-652T>C",
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"transcript": "ENST00000673689.1",
"protein_id": "ENSP00000501243.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "BCAP29",
"gene_hgnc_id": 24131,
"hgvs_c": "c.770-652T>C",
"hgvs_p": null,
"transcript": "NM_001008405.4",
"protein_id": "NP_001008405.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "BCAP29",
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"hgvs_c": "c.770-652T>C",
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"transcript": "ENST00000445771.6",
"protein_id": "ENSP00000400718.2",
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},
{
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],
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"intron_rank": 7,
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"gene_symbol": "BCAP29",
"gene_hgnc_id": 24131,
"hgvs_c": "c.691-3954T>C",
"hgvs_p": null,
"transcript": "NM_001363482.1",
"protein_id": "NP_001350411.1",
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 7,
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"gene_symbol": "BCAP29",
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"hgvs_c": "c.691-3954T>C",
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"transcript": "NM_001371355.1",
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},
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],
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"gene_symbol": "BCAP29",
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"hgvs_c": "c.562-3954T>C",
"hgvs_p": null,
"transcript": "ENST00000491150.5",
"protein_id": "ENSP00000419681.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "BCAP29",
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"hgvs_c": "c.590-652T>C",
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"transcript": "NM_001371356.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "BCAP29",
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"hgvs_c": "c.820-652T>C",
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"transcript": "NM_001363483.2",
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],
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"gene_symbol": "BCAP29",
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"hgvs_c": "c.691-652T>C",
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},
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],
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BCAP29",
"gene_hgnc_id": 24131,
"hgvs_c": "c.691-652T>C",
"hgvs_p": null,
"transcript": "ENST00000379117.6",
"protein_id": "ENSP00000368412.2",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 241,
"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BCAP29",
"gene_hgnc_id": 24131,
"hgvs_c": "c.690+4244T>C",
"hgvs_p": null,
"transcript": "NM_001371357.1",
"protein_id": "NP_001358286.1",
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}
],
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"gnomad_genomes_ac": 114411,
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"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.624,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000005259.9",
"gene_symbol": "BCAP29",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000673665.1",
"gene_symbol": "DUS4L-BCAP29",
"hgnc_id": 54422,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1411-652T>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}