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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-154031026-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154031026&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PP3",
"BS2",
"BP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MECP2",
"hgnc_id": 6990,
"hgvs_c": "c.838C>T",
"hgvs_p": "p.Arg280Trp",
"inheritance_mode": "XL,Unknown,AD",
"pathogenic_score": 1,
"score": -4,
"transcript": "NM_001110792.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3,BS2,BP5",
"acmg_score": -4,
"allele_count_reference_population": 30,
"alphamissense_prediction": null,
"alphamissense_score": 0.9837,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " X-linked 3, susceptibility to,Autism,Inborn genetic diseases,MECP2-related disorder,Rett syndrome,Severe neonatal-onset encephalopathy with microcephaly,Syndromic X-linked intellectual disability Lubs type,X-linked intellectual disability-psychosis-macroorchidism syndrome,not provided",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "US:7 LB:2 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8510445356369019,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 498,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10343,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1497,
"cds_start": 838,
"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.838C>T",
"hgvs_p": "p.Arg280Trp",
"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": "W",
"aa_end": null,
"aa_length": 498,
"aa_ref": "R",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10343,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1497,
"cds_start": 838,
"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.838C>T",
"hgvs_p": "p.Arg280Trp",
"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": "W",
"aa_end": null,
"aa_length": 486,
"aa_ref": "R",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10467,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1461,
"cds_start": 802,
"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.802C>T",
"hgvs_p": "p.Arg268Trp",
"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": "W",
"aa_end": null,
"aa_length": 486,
"aa_ref": "R",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10467,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1461,
"cds_start": 802,
"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.802C>T",
"hgvs_p": "p.Arg268Trp",
"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": "W",
"aa_end": null,
"aa_length": 486,
"aa_ref": "R",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10452,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1461,
"cds_start": 802,
"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.802C>T",
"hgvs_p": "p.Arg268Trp",
"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": "W",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10635,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1182,
"cds_start": 523,
"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.523C>T",
"hgvs_p": "p.Arg175Trp",
"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": "W",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10930,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1182,
"cds_start": 523,
"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.523C>T",
"hgvs_p": "p.Arg175Trp",
"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": "W",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10579,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1182,
"cds_start": 523,
"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.523C>T",
"hgvs_p": "p.Arg175Trp",
"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": "W",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10455,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 1182,
"cds_start": 523,
"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.523C>T",
"hgvs_p": "p.Arg175Trp",
"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": "W",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10386,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1182,
"cds_start": 523,
"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.523C>T",
"hgvs_p": "p.Arg175Trp",
"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": "W",
"aa_end": null,
"aa_length": 263,
"aa_ref": "R",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10470,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 792,
"cds_start": 133,
"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.133C>T",
"hgvs_p": "p.Arg45Trp",
"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": "W",
"aa_end": null,
"aa_length": 263,
"aa_ref": "R",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10358,
"cdna_start": 905,
"cds_end": null,
"cds_length": 792,
"cds_start": 133,
"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.133C>T",
"hgvs_p": "p.Arg45Trp",
"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": "W",
"aa_end": null,
"aa_length": 263,
"aa_ref": "R",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10234,
"cdna_start": 781,
"cds_end": null,
"cds_length": 792,
"cds_start": 133,
"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.133C>T",
"hgvs_p": "p.Arg45Trp",
"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": "W",
"aa_end": null,
"aa_length": 486,
"aa_ref": "R",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11595,
"cdna_start": 2142,
"cds_end": null,
"cds_length": 1461,
"cds_start": 802,
"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.802C>T",
"hgvs_p": "p.Arg268Trp",
"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": "W",
"aa_end": null,
"aa_length": 486,
"aa_ref": "R",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12757,
"cdna_start": 3304,
"cds_end": null,
"cds_length": 1461,
"cds_start": 802,
"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.802C>T",
"hgvs_p": "p.Arg268Trp",
"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": "W",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12132,
"cdna_start": 2679,
"cds_end": null,
"cds_length": 1182,
"cds_start": 523,
"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.523C>T",
"hgvs_p": "p.Arg175Trp",
"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": "W",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10773,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 1182,
"cds_start": 523,
"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.523C>T",
"hgvs_p": "p.Arg175Trp",
"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": "W",
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"aa_length": 393,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12087,
"cdna_start": 2634,
"cds_end": null,
"cds_length": 1182,
"cds_start": 523,
"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.523C>T",
"hgvs_p": "p.Arg175Trp",
"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": "W",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11818,
"cdna_start": 2365,
"cds_end": null,
"cds_length": 1182,
"cds_start": 523,
"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.523C>T",
"hgvs_p": "p.Arg175Trp",
"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": "W",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11718,
"cdna_start": 2265,
"cds_end": null,
"cds_length": 1182,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047442120.1",
"gene_hgnc_id": 6990,
"gene_symbol": "MECP2",
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298076.1",
"strand": false,
"transcript": "XM_047442120.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13167,
"cdna_start": 3714,
"cds_end": null,
"cds_length": 1182,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
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"phenotype_combined": "not provided|Severe neonatal-onset encephalopathy with microcephaly|X-linked intellectual disability-psychosis-macroorchidism syndrome|Rett syndrome;Severe neonatal-onset encephalopathy with microcephaly;Syndromic X-linked intellectual disability Lubs type;X-linked intellectual disability-psychosis-macroorchidism syndrome;Autism, susceptibility to, X-linked 3|Inborn genetic diseases|MECP2-related disorder|Rett syndrome",
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}
]
}