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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-154031243-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154031243&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154031243,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000453960.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.621C>A",
"hgvs_p": "p.Gly207Gly",
"transcript": "NM_001110792.2",
"protein_id": "NP_001104262.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 498,
"cds_start": 621,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 10343,
"mane_select": "ENST00000453960.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.621C>A",
"hgvs_p": "p.Gly207Gly",
"transcript": "ENST00000453960.7",
"protein_id": "ENSP00000395535.2",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 498,
"cds_start": 621,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 10343,
"mane_select": "NM_001110792.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.585C>A",
"hgvs_p": "p.Gly195Gly",
"transcript": "NM_004992.4",
"protein_id": "NP_004983.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 486,
"cds_start": 585,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 10467,
"mane_select": null,
"mane_plus": "ENST00000303391.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.585C>A",
"hgvs_p": "p.Gly195Gly",
"transcript": "ENST00000303391.11",
"protein_id": "ENSP00000301948.6",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 486,
"cds_start": 585,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 10467,
"mane_select": null,
"mane_plus": "NM_004992.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.512C>A",
"hgvs_p": "p.Ala171Glu",
"transcript": "ENST00000407218.5",
"protein_id": "ENSP00000384865.2",
"transcript_support_level": 5,
"aa_start": 171,
"aa_end": null,
"aa_length": 184,
"cds_start": 512,
"cds_end": null,
"cds_length": 555,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 1174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Glu",
"transcript": "ENST00000415944.4",
"protein_id": "ENSP00000416267.2",
"transcript_support_level": 5,
"aa_start": 159,
"aa_end": null,
"aa_length": 172,
"cds_start": 476,
"cds_end": null,
"cds_length": 519,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.476C>A",
"hgvs_p": "p.Ala159Glu",
"transcript": "ENST00000628176.2",
"protein_id": "ENSP00000486978.1",
"transcript_support_level": 3,
"aa_start": 159,
"aa_end": null,
"aa_length": 172,
"cds_start": 476,
"cds_end": null,
"cds_length": 519,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.585C>A",
"hgvs_p": "p.Gly195Gly",
"transcript": "ENST00000630151.3",
"protein_id": "ENSP00000486089.2",
"transcript_support_level": 5,
"aa_start": 195,
"aa_end": null,
"aa_length": 486,
"cds_start": 585,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 10452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.306C>A",
"hgvs_p": "p.Gly102Gly",
"transcript": "NM_001316337.2",
"protein_id": "NP_001303266.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 393,
"cds_start": 306,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 10635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.306C>A",
"hgvs_p": "p.Gly102Gly",
"transcript": "NM_001369391.2",
"protein_id": "NP_001356320.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 393,
"cds_start": 306,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 10930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.306C>A",
"hgvs_p": "p.Gly102Gly",
"transcript": "NM_001369392.2",
"protein_id": "NP_001356321.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 393,
"cds_start": 306,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 10579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.306C>A",
"hgvs_p": "p.Gly102Gly",
"transcript": "NM_001369393.2",
"protein_id": "NP_001356322.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 393,
"cds_start": 306,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 10455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.306C>A",
"hgvs_p": "p.Gly102Gly",
"transcript": "NM_001369394.2",
"protein_id": "NP_001356323.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 393,
"cds_start": 306,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 10386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.585C>A",
"hgvs_p": "p.Gly195Gly",
"transcript": "XM_047442115.1",
"protein_id": "XP_047298071.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 486,
"cds_start": 585,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 11595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.585C>A",
"hgvs_p": "p.Gly195Gly",
"transcript": "XM_047442116.1",
"protein_id": "XP_047298072.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 486,
"cds_start": 585,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 3087,
"cdna_end": null,
"cdna_length": 12757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.306C>A",
"hgvs_p": "p.Gly102Gly",
"transcript": "XM_024452383.2",
"protein_id": "XP_024308151.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 393,
"cds_start": 306,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 2462,
"cdna_end": null,
"cdna_length": 12132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.306C>A",
"hgvs_p": "p.Gly102Gly",
"transcript": "XM_047442117.1",
"protein_id": "XP_047298073.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 393,
"cds_start": 306,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 10773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.306C>A",
"hgvs_p": "p.Gly102Gly",
"transcript": "XM_047442118.1",
"protein_id": "XP_047298074.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 393,
"cds_start": 306,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 2417,
"cdna_end": null,
"cdna_length": 12087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.306C>A",
"hgvs_p": "p.Gly102Gly",
"transcript": "XM_047442119.1",
"protein_id": "XP_047298075.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 393,
"cds_start": 306,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 11818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.306C>A",
"hgvs_p": "p.Gly102Gly",
"transcript": "XM_047442120.1",
"protein_id": "XP_047298076.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 393,
"cds_start": 306,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 11718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.306C>A",
"hgvs_p": "p.Gly102Gly",
"transcript": "XM_047442121.1",
"protein_id": "XP_047298077.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 393,
"cds_start": 306,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 3497,
"cdna_end": null,
"cdna_length": 13167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.-85C>A",
"hgvs_p": null,
"transcript": "NM_001386137.1",
"protein_id": "NP_001373066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 263,
"cds_start": -4,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.-85C>A",
"hgvs_p": null,
"transcript": "NM_001386138.1",
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],
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"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
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{
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"BP7",
"BS2"
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"verdict": "Benign",
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],
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],
"clinvar_disease": "MECP2-related disorder,Severe neonatal-onset encephalopathy with microcephaly",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Severe neonatal-onset encephalopathy with microcephaly|MECP2-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}