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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: X-154030753-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154030753&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MECP2",
"hgnc_id": 6990,
"hgvs_c": "c.1111T>C",
"hgvs_p": "p.Ser371Pro",
"inheritance_mode": "XL,Unknown,AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001110792.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong",
"acmg_score": -10,
"allele_count_reference_population": 64,
"alphamissense_prediction": null,
"alphamissense_score": 0.0849,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.12,
"chr": "X",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Inborn genetic diseases,MECP2-related disorder,Rett syndrome,Severe neonatal-onset encephalopathy with microcephaly,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14675197005271912,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 498,
"aa_ref": "S",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10343,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001110792.2",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.1111T>C",
"hgvs_p": "p.Ser371Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000453960.7",
"protein_coding": true,
"protein_id": "NP_001104262.1",
"strand": false,
"transcript": "NM_001110792.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 498,
"aa_ref": "S",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10343,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000453960.7",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.1111T>C",
"hgvs_p": "p.Ser371Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001110792.2",
"protein_coding": true,
"protein_id": "ENSP00000395535.2",
"strand": false,
"transcript": "ENST00000453960.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 486,
"aa_ref": "S",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10467,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_004992.4",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.1075T>C",
"hgvs_p": "p.Ser359Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000303391.11",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004983.1",
"strand": false,
"transcript": "NM_004992.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 486,
"aa_ref": "S",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10467,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000303391.11",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.1075T>C",
"hgvs_p": "p.Ser359Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_004992.4",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000301948.6",
"strand": false,
"transcript": "ENST00000303391.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 486,
"aa_ref": "S",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10452,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000630151.3",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.1075T>C",
"hgvs_p": "p.Ser359Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486089.2",
"strand": false,
"transcript": "ENST00000630151.3",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 393,
"aa_ref": "S",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10635,
"cdna_start": 1455,
"cds_end": null,
"cds_length": 1182,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001316337.2",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.796T>C",
"hgvs_p": "p.Ser266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001303266.1",
"strand": false,
"transcript": "NM_001316337.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 393,
"aa_ref": "S",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10930,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 1182,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001369391.2",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.796T>C",
"hgvs_p": "p.Ser266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356320.1",
"strand": false,
"transcript": "NM_001369391.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 393,
"aa_ref": "S",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10579,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 1182,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001369392.2",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.796T>C",
"hgvs_p": "p.Ser266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356321.1",
"strand": false,
"transcript": "NM_001369392.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 393,
"aa_ref": "S",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10455,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1182,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001369393.2",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.796T>C",
"hgvs_p": "p.Ser266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356322.1",
"strand": false,
"transcript": "NM_001369393.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 393,
"aa_ref": "S",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10386,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1182,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001369394.2",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.796T>C",
"hgvs_p": "p.Ser266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356323.1",
"strand": false,
"transcript": "NM_001369394.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 333,
"aa_ref": "S",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1298,
"cdna_start": 848,
"cds_end": null,
"cds_length": 1002,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000637917.2",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.616T>C",
"hgvs_p": "p.Ser206Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489847.2",
"strand": false,
"transcript": "ENST00000637917.2",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 263,
"aa_ref": "S",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10470,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 792,
"cds_start": 406,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001386137.1",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.406T>C",
"hgvs_p": "p.Ser136Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373066.1",
"strand": false,
"transcript": "NM_001386137.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 263,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10358,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 792,
"cds_start": 406,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001386138.1",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.406T>C",
"hgvs_p": "p.Ser136Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373067.1",
"strand": false,
"transcript": "NM_001386138.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 263,
"aa_ref": "S",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10234,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 792,
"cds_start": 406,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001386139.1",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.406T>C",
"hgvs_p": "p.Ser136Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373068.1",
"strand": false,
"transcript": "NM_001386139.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 486,
"aa_ref": "S",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11595,
"cdna_start": 2415,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047442115.1",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.1075T>C",
"hgvs_p": "p.Ser359Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298071.1",
"strand": false,
"transcript": "XM_047442115.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 486,
"aa_ref": "S",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12757,
"cdna_start": 3577,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047442116.1",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.1075T>C",
"hgvs_p": "p.Ser359Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298072.1",
"strand": false,
"transcript": "XM_047442116.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 393,
"aa_ref": "S",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12132,
"cdna_start": 2952,
"cds_end": null,
"cds_length": 1182,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024452383.2",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.796T>C",
"hgvs_p": "p.Ser266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308151.1",
"strand": false,
"transcript": "XM_024452383.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 393,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10773,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 1182,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047442117.1",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.796T>C",
"hgvs_p": "p.Ser266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298073.1",
"strand": false,
"transcript": "XM_047442117.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 393,
"aa_ref": "S",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12087,
"cdna_start": 2907,
"cds_end": null,
"cds_length": 1182,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047442118.1",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.796T>C",
"hgvs_p": "p.Ser266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298074.1",
"strand": false,
"transcript": "XM_047442118.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 393,
"aa_ref": "S",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11818,
"cdna_start": 2638,
"cds_end": null,
"cds_length": 1182,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047442119.1",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.796T>C",
"hgvs_p": "p.Ser266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298075.1",
"strand": false,
"transcript": "XM_047442119.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 393,
"aa_ref": "S",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11718,
"cdna_start": 2538,
"cds_end": null,
"cds_length": 1182,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047442120.1",
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]
}