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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-154354825-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154354825&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "FLNA",
"hgnc_id": 3754,
"hgvs_c": "c.5217G>A",
"hgvs_p": "p.Thr1739Thr",
"inheritance_mode": "XL,AD,AR,Unknown",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_001110556.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "X",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " X-linked dominant, periventricular, type II,Frontometaphyseal dysplasia,Heterotopia,Melnick-Needles syndrome,Oto-palato-digital syndrome,Terminal osseous dysplasia-pigmentary defects syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09200000017881393,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2647,
"aa_ref": "T",
"aa_start": 1739,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8507,
"cdna_start": 5462,
"cds_end": null,
"cds_length": 7944,
"cds_start": 5217,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001110556.2",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.5217G>A",
"hgvs_p": "p.Thr1739Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369850.10",
"protein_coding": true,
"protein_id": "NP_001104026.1",
"strand": false,
"transcript": "NM_001110556.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2647,
"aa_ref": "T",
"aa_start": 1739,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8507,
"cdna_start": 5462,
"cds_end": null,
"cds_length": 7944,
"cds_start": 5217,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000369850.10",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.5217G>A",
"hgvs_p": "p.Thr1739Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001110556.2",
"protein_coding": true,
"protein_id": "ENSP00000358866.3",
"strand": false,
"transcript": "ENST00000369850.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2639,
"aa_ref": "T",
"aa_start": 1731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8278,
"cdna_start": 5231,
"cds_end": null,
"cds_length": 7920,
"cds_start": 5193,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000360319.9",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.5193G>A",
"hgvs_p": "p.Thr1731Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353467.4",
"strand": false,
"transcript": "ENST00000360319.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2620,
"aa_ref": "T",
"aa_start": 1712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8240,
"cdna_start": 5194,
"cds_end": null,
"cds_length": 7863,
"cds_start": 5136,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000369856.8",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.5136G>A",
"hgvs_p": "p.Thr1712Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358872.4",
"strand": false,
"transcript": "ENST00000369856.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5374,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000490936.5",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.1206G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000490936.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2650,
"aa_ref": "T",
"aa_start": 1742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8520,
"cdna_start": 5475,
"cds_end": null,
"cds_length": 7953,
"cds_start": 5226,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000888339.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.5226G>A",
"hgvs_p": "p.Thr1742Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558398.1",
"strand": false,
"transcript": "ENST00000888339.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2642,
"aa_ref": "T",
"aa_start": 1734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8489,
"cdna_start": 5445,
"cds_end": null,
"cds_length": 7929,
"cds_start": 5202,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000888343.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.5202G>A",
"hgvs_p": "p.Thr1734Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558402.1",
"strand": false,
"transcript": "ENST00000888343.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2639,
"aa_ref": "T",
"aa_start": 1731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8483,
"cdna_start": 5438,
"cds_end": null,
"cds_length": 7920,
"cds_start": 5193,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001456.4",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.5193G>A",
"hgvs_p": "p.Thr1731Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001447.2",
"strand": false,
"transcript": "NM_001456.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2638,
"aa_ref": "T",
"aa_start": 1730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8482,
"cdna_start": 5435,
"cds_end": null,
"cds_length": 7917,
"cds_start": 5190,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000888340.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.5190G>A",
"hgvs_p": "p.Thr1730Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558399.1",
"strand": false,
"transcript": "ENST00000888340.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2638,
"aa_ref": "T",
"aa_start": 1731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8482,
"cdna_start": 5438,
"cds_end": null,
"cds_length": 7917,
"cds_start": 5193,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000964813.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.5193G>A",
"hgvs_p": "p.Thr1731Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634872.1",
"strand": false,
"transcript": "ENST00000964813.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2631,
"aa_ref": "T",
"aa_start": 1723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8461,
"cdna_start": 5414,
"cds_end": null,
"cds_length": 7896,
"cds_start": 5169,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000888341.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.5169G>A",
"hgvs_p": "p.Thr1723Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558400.1",
"strand": false,
"transcript": "ENST00000888341.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2607,
"aa_ref": "T",
"aa_start": 1731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8393,
"cdna_start": 5442,
"cds_end": null,
"cds_length": 7824,
"cds_start": 5193,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000888338.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.5193G>A",
"hgvs_p": "p.Thr1731Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558397.1",
"strand": false,
"transcript": "ENST00000888338.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2572,
"aa_ref": "T",
"aa_start": 1664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8150,
"cdna_start": 5103,
"cds_end": null,
"cds_length": 7719,
"cds_start": 4992,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000934717.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.4992G>A",
"hgvs_p": "p.Thr1664Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604776.1",
"strand": false,
"transcript": "ENST00000934717.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2450,
"aa_ref": "T",
"aa_start": 1542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7914,
"cdna_start": 4869,
"cds_end": null,
"cds_length": 7353,
"cds_start": 4626,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000888342.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.4626G>A",
"hgvs_p": "p.Thr1542Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558401.1",
"strand": false,
"transcript": "ENST00000888342.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 230,
"aa_ref": "T",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 696,
"cdna_start": 65,
"cds_end": null,
"cds_length": 694,
"cds_start": 63,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000438732.2",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Thr21Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398215.1",
"strand": false,
"transcript": "ENST00000438732.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2317,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7513,
"cdna_start": null,
"cds_end": null,
"cds_length": 6954,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888344.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.4871-1368G>A",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558403.1",
"strand": false,
"transcript": "ENST00000888344.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1574,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5083,
"cdna_start": null,
"cds_end": null,
"cds_length": 4725,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000422373.6",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.3161-2150G>A",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416926.2",
"strand": false,
"transcript": "ENST00000422373.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 989,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": null,
"cds_end": null,
"cds_length": 2970,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964814.1",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.2065-3799G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634873.1",
"strand": false,
"transcript": "ENST00000964814.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 95,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 435,
"cdna_start": null,
"cds_end": null,
"cds_length": 288,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673639.2",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "c.278-6135G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501210.2",
"strand": false,
"transcript": "ENST00000673639.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8225,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 47,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000420627.5",
"gene_hgnc_id": 3754,
"gene_symbol": "FLNA",
"hgvs_c": "n.*3358G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000408921.1",
"strand": false,
"transcript": "ENST00000420627.5",
"transcript_support_level": 5
},
{
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"effect": "splice_region_variant,synonymous_variant",
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"phenotype_combined": "Terminal osseous dysplasia-pigmentary defects syndrome|not provided|Heterotopia, periventricular, X-linked dominant|Heterotopia, periventricular, X-linked dominant;Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II;Melnick-Needles syndrome",
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}
]
}