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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: 15-65913866-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=65913866&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MEGF11",
"hgnc_id": 29635,
"hgvs_c": "c.2581C>T",
"hgvs_p": "p.Leu861Phe",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001385028.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 139482,
"alphamissense_prediction": null,
"alphamissense_score": 0.0841,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.002332031726837158,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "L",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6212,
"cdna_start": 2735,
"cds_end": null,
"cds_length": 3423,
"cds_start": 2581,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001385028.1",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2581C>T",
"hgvs_p": "p.Leu861Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395614.6",
"protein_coding": true,
"protein_id": "NP_001371957.1",
"strand": false,
"transcript": "NM_001385028.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "L",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6212,
"cdna_start": 2735,
"cds_end": null,
"cds_length": 3423,
"cds_start": 2581,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000395614.6",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2581C>T",
"hgvs_p": "p.Leu861Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001385028.1",
"protein_coding": true,
"protein_id": "ENSP00000378976.2",
"strand": false,
"transcript": "ENST00000395614.6",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "L",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5930,
"cdna_start": 2741,
"cds_end": null,
"cds_length": 3135,
"cds_start": 2581,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000422354.6",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2581C>T",
"hgvs_p": "p.Leu861Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414475.1",
"strand": false,
"transcript": "ENST00000422354.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 969,
"aa_ref": "L",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5707,
"cdna_start": 2515,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000288745.7",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Leu786Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000288745.3",
"strand": false,
"transcript": "ENST00000288745.7",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1124,
"aa_ref": "L",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5177,
"cdna_start": 2796,
"cds_end": null,
"cds_length": 3375,
"cds_start": 2581,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000858878.1",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2581C>T",
"hgvs_p": "p.Leu861Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528937.1",
"strand": false,
"transcript": "ENST00000858878.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "L",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5946,
"cdna_start": 2757,
"cds_end": null,
"cds_length": 3135,
"cds_start": 2581,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001387150.1",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2581C>T",
"hgvs_p": "p.Leu861Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374079.1",
"strand": false,
"transcript": "NM_001387150.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "L",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5924,
"cdna_start": 2735,
"cds_end": null,
"cds_length": 3135,
"cds_start": 2581,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_032445.3",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2581C>T",
"hgvs_p": "p.Leu861Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115821.2",
"strand": false,
"transcript": "NM_032445.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1044,
"aa_ref": "L",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6163,
"cdna_start": 2754,
"cds_end": null,
"cds_length": 3135,
"cds_start": 2581,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000409699.6",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2581C>T",
"hgvs_p": "p.Leu861Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386908.2",
"strand": false,
"transcript": "ENST00000409699.6",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1021,
"aa_ref": "L",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3772,
"cdna_start": 2735,
"cds_end": null,
"cds_length": 3066,
"cds_start": 2581,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001385029.1",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2581C>T",
"hgvs_p": "p.Leu861Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371958.1",
"strand": false,
"transcript": "NM_001385029.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 969,
"aa_ref": "L",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5717,
"cdna_start": 2528,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001385030.1",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Leu786Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371959.1",
"strand": false,
"transcript": "NM_001385030.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 964,
"aa_ref": "L",
"aa_start": 781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5818,
"cdna_start": 2629,
"cds_end": null,
"cds_length": 2895,
"cds_start": 2341,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001385031.1",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2341C>T",
"hgvs_p": "p.Leu781Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371960.1",
"strand": false,
"transcript": "NM_001385031.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 941,
"aa_ref": "L",
"aa_start": 781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3666,
"cdna_start": 2629,
"cds_end": null,
"cds_length": 2826,
"cds_start": 2341,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001385032.1",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2341C>T",
"hgvs_p": "p.Leu781Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371961.1",
"strand": false,
"transcript": "NM_001385032.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 883,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3393,
"cdna_start": 2606,
"cds_end": null,
"cds_length": 2652,
"cds_start": 2452,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001385033.1",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Leu818Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371962.1",
"strand": false,
"transcript": "NM_001385033.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "L",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6088,
"cdna_start": 2611,
"cds_end": null,
"cds_length": 3423,
"cds_start": 2581,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047433165.1",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2581C>T",
"hgvs_p": "p.Leu861Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289121.1",
"strand": false,
"transcript": "XM_047433165.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 1097,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5959,
"cdna_start": 2482,
"cds_end": null,
"cds_length": 3294,
"cds_start": 2452,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017022670.3",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Leu818Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878159.1",
"strand": false,
"transcript": "XM_017022670.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1092,
"aa_ref": "L",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6721,
"cdna_start": 2611,
"cds_end": null,
"cds_length": 3279,
"cds_start": 2581,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017022671.3",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2581C>T",
"hgvs_p": "p.Leu861Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878160.1",
"strand": false,
"transcript": "XM_017022671.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 1022,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3686,
"cdna_start": 2611,
"cds_end": null,
"cds_length": 3069,
"cds_start": 2581,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047433166.1",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2581C>T",
"hgvs_p": "p.Leu861Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289122.1",
"strand": false,
"transcript": "XM_047433166.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_start": 2611,
"cds_end": null,
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"cds_start": 2581,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017022673.3",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2581C>T",
"hgvs_p": "p.Leu861Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878162.1",
"strand": false,
"transcript": "XM_017022673.3",
"transcript_support_level": null
},
{
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"aa_length": 979,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3557,
"cdna_start": 2482,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2452,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047433167.1",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2452C>T",
"hgvs_p": "p.Leu818Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289123.1",
"strand": false,
"transcript": "XM_047433167.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 964,
"aa_ref": "L",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6552,
"cdna_start": 2611,
"cds_end": null,
"cds_length": 2895,
"cds_start": 2581,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047433168.1",
"gene_hgnc_id": 29635,
"gene_symbol": "MEGF11",
"hgvs_c": "c.2581C>T",
"hgvs_p": "p.Leu861Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289124.1",
"strand": false,
"transcript": "XM_047433168.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 883,
"aa_ref": "L",
"aa_start": 818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3269,
"cdna_start": 2482,
"cds_end": null,
"cds_length": 2652,
"cds_start": 2452,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
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