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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: 1-15777183-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=15777183&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FBLIM1",
"hgnc_id": 24686,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_017556.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SPEN-AS1",
"hgnc_id": 55937,
"hgvs_c": "n.348-6198C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000746505.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 86,
"alphamissense_prediction": null,
"alphamissense_score": 0.0869,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.043841391801834106,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 373,
"aa_ref": "V",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3314,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 1122,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_017556.4",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375766.8",
"protein_coding": true,
"protein_id": "NP_060026.2",
"strand": true,
"transcript": "NM_017556.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 373,
"aa_ref": "V",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3314,
"cdna_start": 1168,
"cds_end": null,
"cds_length": 1122,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000375766.8",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017556.4",
"protein_coding": true,
"protein_id": "ENSP00000364921.3",
"strand": true,
"transcript": "ENST00000375766.8",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 373,
"aa_ref": "V",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3498,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 1122,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000375771.5",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364926.1",
"strand": true,
"transcript": "ENST00000375771.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 397,
"aa_ref": "V",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2025,
"cdna_start": 1284,
"cds_end": null,
"cds_length": 1194,
"cds_start": 976,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000915887.1",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.976G>A",
"hgvs_p": "p.Val326Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585946.1",
"strand": true,
"transcript": "ENST00000915887.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 385,
"aa_ref": "V",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2303,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1158,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000908351.1",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Val314Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578410.1",
"strand": true,
"transcript": "ENST00000908351.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 385,
"aa_ref": "V",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 1158,
"cds_start": 940,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000915876.1",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Val314Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585935.1",
"strand": true,
"transcript": "ENST00000915876.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 373,
"aa_ref": "V",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 1122,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001350151.2",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337080.1",
"strand": true,
"transcript": "NM_001350151.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 373,
"aa_ref": "V",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3820,
"cdna_start": 1674,
"cds_end": null,
"cds_length": 1122,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000908346.1",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578405.1",
"strand": true,
"transcript": "ENST00000908346.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 373,
"aa_ref": "V",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3398,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 1122,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908347.1",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578406.1",
"strand": true,
"transcript": "ENST00000908347.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 373,
"aa_ref": "V",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1122,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908348.1",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578407.1",
"strand": true,
"transcript": "ENST00000908348.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 373,
"aa_ref": "V",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2339,
"cdna_start": 1423,
"cds_end": null,
"cds_length": 1122,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000908349.1",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578408.1",
"strand": true,
"transcript": "ENST00000908349.1",
"transcript_support_level": null
},
{
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"aa_length": 373,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 1122,
"cds_start": 904,
"consequences": [
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],
"exon_count": 11,
"exon_rank": 10,
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"feature": "ENST00000908350.1",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578409.1",
"strand": true,
"transcript": "ENST00000908350.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3544,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1122,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908352.1",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578411.1",
"strand": true,
"transcript": "ENST00000908352.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 373,
"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 1345,
"cds_end": null,
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"cds_start": 904,
"consequences": [
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],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000908353.1",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578412.1",
"strand": true,
"transcript": "ENST00000908353.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 373,
"aa_ref": "V",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1759,
"cdna_start": 1466,
"cds_end": null,
"cds_length": 1122,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000908354.1",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578413.1",
"strand": true,
"transcript": "ENST00000908354.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 373,
"aa_ref": "V",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 1122,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000908355.1",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578414.1",
"strand": true,
"transcript": "ENST00000908355.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 373,
"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3351,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 1122,
"cds_start": 904,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000908356.1",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000578415.1",
"strand": true,
"transcript": "ENST00000908356.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 373,
"aa_ref": "V",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3226,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 1122,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000908358.1",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578417.1",
"strand": true,
"transcript": "ENST00000908358.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 373,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 1854,
"cds_end": null,
"cds_length": 1122,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000908360.1",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578419.1",
"strand": true,
"transcript": "ENST00000908360.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 373,
"aa_ref": "V",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3031,
"cdna_start": 2132,
"cds_end": null,
"cds_length": 1122,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000908361.1",
"gene_hgnc_id": 24686,
"gene_symbol": "FBLIM1",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578420.1",
"strand": true,
"transcript": "ENST00000908361.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 373,
"aa_ref": "V",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
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