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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-154032382-AC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154032382&ref=AC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154032382,
"ref": "AC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_001110792.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.237delG",
"hgvs_p": "p.Ser80fs",
"transcript": "NM_001110792.2",
"protein_id": "NP_001104262.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 498,
"cds_start": 237,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 10343,
"mane_select": "ENST00000453960.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.237delG",
"hgvs_p": "p.Ser80fs",
"transcript": "ENST00000453960.7",
"protein_id": "ENSP00000395535.2",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 498,
"cds_start": 237,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 10343,
"mane_select": "NM_001110792.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.201delG",
"hgvs_p": "p.Ser68fs",
"transcript": "NM_004992.4",
"protein_id": "NP_004983.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 486,
"cds_start": 201,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 10467,
"mane_select": null,
"mane_plus": "ENST00000303391.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.201delG",
"hgvs_p": "p.Ser68fs",
"transcript": "ENST00000303391.11",
"protein_id": "ENSP00000301948.6",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 486,
"cds_start": 201,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 10467,
"mane_select": null,
"mane_plus": "NM_004992.4",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "n.332delG",
"hgvs_p": null,
"transcript": "ENST00000496908.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_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": "n.480delG",
"hgvs_p": null,
"transcript": "ENST00000631210.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.201delG",
"hgvs_p": "p.Ser68fs",
"transcript": "ENST00000630151.3",
"protein_id": "ENSP00000486089.2",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 486,
"cds_start": 201,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 10452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.201delG",
"hgvs_p": "p.Ser68fs",
"transcript": "ENST00000637917.2",
"protein_id": "ENSP00000489847.2",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 333,
"cds_start": 201,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.237delG",
"hgvs_p": "p.Ser80fs",
"transcript": "ENST00000407218.5",
"protein_id": "ENSP00000384865.2",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 184,
"cds_start": 237,
"cds_end": null,
"cds_length": 555,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 1174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.201delG",
"hgvs_p": "p.Ser68fs",
"transcript": "ENST00000415944.4",
"protein_id": "ENSP00000416267.2",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 172,
"cds_start": 201,
"cds_end": null,
"cds_length": 519,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.201delG",
"hgvs_p": "p.Ser68fs",
"transcript": "ENST00000628176.2",
"protein_id": "ENSP00000486978.1",
"transcript_support_level": 3,
"aa_start": 67,
"aa_end": null,
"aa_length": 172,
"cds_start": 201,
"cds_end": null,
"cds_length": 519,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.201delG",
"hgvs_p": "p.Ser68fs",
"transcript": "XM_047442115.1",
"protein_id": "XP_047298071.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 486,
"cds_start": 201,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 11595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.201delG",
"hgvs_p": "p.Ser68fs",
"transcript": "XM_047442116.1",
"protein_id": "XP_047298072.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 486,
"cds_start": 201,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 12757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "n.*255delG",
"hgvs_p": null,
"transcript": "ENST00000369957.5",
"protein_id": "ENSP00000358973.4",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "n.2549delG",
"hgvs_p": null,
"transcript": "ENST00000486506.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "n.*517delG",
"hgvs_p": null,
"transcript": "ENST00000674996.2",
"protein_id": "ENSP00000502832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "n.*594delG",
"hgvs_p": null,
"transcript": "ENST00000675526.2",
"protein_id": "ENSP00000501710.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "n.*180delG",
"hgvs_p": null,
"transcript": "ENST00000713611.1",
"protein_id": "ENSP00000518906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 777,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.-79delG",
"hgvs_p": null,
"transcript": "NM_001316337.2",
"protein_id": "NP_001303266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 10635,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.-79delG",
"hgvs_p": null,
"transcript": "NM_001369391.2",
"protein_id": "NP_001356320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10930,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.-79delG",
"hgvs_p": null,
"transcript": "NM_001369392.2",
"protein_id": "NP_001356321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
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"cdna_length": 10579,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.-79delG",
"hgvs_p": null,
"transcript": "NM_001369393.2",
"protein_id": "NP_001356322.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10455,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECP2",
"gene_hgnc_id": 6990,
"hgvs_c": "c.-79delG",
"hgvs_p": null,
"transcript": "NM_001369394.2",
"protein_id": "NP_001356323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
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"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001110792.2",
"gene_symbol": "MECP2",
"hgnc_id": 6990,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "XL,Unknown,AD",
"hgvs_c": "c.237delG",
"hgvs_p": "p.Ser80fs"
}
],
"clinvar_disease": "Rett syndrome,Severe neonatal-onset encephalopathy with microcephaly",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Rett syndrome|Severe neonatal-onset encephalopathy with microcephaly",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}