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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: 1-206453482-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=206453482&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 206453482,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000573034.8",
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.2360+102G>C",
"hgvs_p": null,
"transcript": "NM_015326.5",
"protein_id": "NP_056141.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": -4,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6884,
"mane_select": "ENST00000573034.8",
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.2360+102G>C",
"hgvs_p": null,
"transcript": "ENST00000573034.8",
"protein_id": "ENSP00000459615.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": -4,
"cds_end": null,
"cds_length": 3216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6884,
"mane_select": "NM_015326.5",
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.2357+102G>C",
"hgvs_p": null,
"transcript": "ENST00000624873.3",
"protein_id": "ENSP00000485517.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": -4,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4705,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.1202+102G>C",
"hgvs_p": null,
"transcript": "ENST00000605476.5",
"protein_id": "ENSP00000474270.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": -4,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2484,
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.2357+102G>C",
"hgvs_p": null,
"transcript": "NM_001170637.4",
"protein_id": "NP_001164108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1070,
"cds_start": -4,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6881,
"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": 24,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.2360+102G>C",
"hgvs_p": null,
"transcript": "NM_001377444.1",
"protein_id": "NP_001364373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 973,
"cds_start": -4,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6979,
"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": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.2360+102G>C",
"hgvs_p": null,
"transcript": "NM_001377445.1",
"protein_id": "NP_001364374.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 841,
"cds_start": -4,
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"cdna_start": null,
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"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": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.2357+102G>C",
"hgvs_p": null,
"transcript": "NM_001377446.1",
"protein_id": "NP_001364375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 840,
"cds_start": -4,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3543,
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.2360+102G>C",
"hgvs_p": null,
"transcript": "NM_001377447.1",
"protein_id": "NP_001364376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 790,
"cds_start": -4,
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"cds_length": 2373,
"cdna_start": null,
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"cdna_length": 5028,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 20,
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"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.2357+102G>C",
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"transcript": "NM_001300952.2",
"protein_id": "NP_001287881.1",
"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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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 19,
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"gene_symbol": "SRGAP2",
"gene_hgnc_id": 19751,
"hgvs_c": "c.2357+102G>C",
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"transcript": "ENST00000605610.5",
"protein_id": "ENSP00000473954.1",
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},
{
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],
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"gene_symbol": "SRGAP2",
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"transcript": "ENST00000604010.1",
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},
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],
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"gene_symbol": "SRGAP2",
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],
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],
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},
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],
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"gene_symbol": "SRGAP2",
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"hgvs_c": "c.2360+102G>C",
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],
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],
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"gene_symbol": "SRGAP2",
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"hgvs_c": "c.2267+102G>C",
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},
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],
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"gene_symbol": "SRGAP2",
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},
{
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}
],
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"computational_score_selected": -0.9300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"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": "ENST00000573034.8",
"gene_symbol": "SRGAP2",
"hgnc_id": 19751,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2360+102G>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
}