← Back to variant description
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-154354639-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154354639&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154354639,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000369850.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.5290G>A",
"hgvs_p": "p.Ala1764Thr",
"transcript": "NM_001110556.2",
"protein_id": "NP_001104026.1",
"transcript_support_level": null,
"aa_start": 1764,
"aa_end": null,
"aa_length": 2647,
"cds_start": 5290,
"cds_end": null,
"cds_length": 7944,
"cdna_start": 5535,
"cdna_end": null,
"cdna_length": 8507,
"mane_select": "ENST00000369850.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.5290G>A",
"hgvs_p": "p.Ala1764Thr",
"transcript": "ENST00000369850.10",
"protein_id": "ENSP00000358866.3",
"transcript_support_level": 1,
"aa_start": 1764,
"aa_end": null,
"aa_length": 2647,
"cds_start": 5290,
"cds_end": null,
"cds_length": 7944,
"cdna_start": 5535,
"cdna_end": null,
"cdna_length": 8507,
"mane_select": "NM_001110556.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.5266G>A",
"hgvs_p": "p.Ala1756Thr",
"transcript": "ENST00000360319.9",
"protein_id": "ENSP00000353467.4",
"transcript_support_level": 1,
"aa_start": 1756,
"aa_end": null,
"aa_length": 2639,
"cds_start": 5266,
"cds_end": null,
"cds_length": 7920,
"cdna_start": 5304,
"cdna_end": null,
"cdna_length": 8278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.5209G>A",
"hgvs_p": "p.Ala1737Thr",
"transcript": "ENST00000369856.8",
"protein_id": "ENSP00000358872.4",
"transcript_support_level": 1,
"aa_start": 1737,
"aa_end": null,
"aa_length": 2620,
"cds_start": 5209,
"cds_end": null,
"cds_length": 7863,
"cdna_start": 5267,
"cdna_end": null,
"cdna_length": 8240,
"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": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.1279G>A",
"hgvs_p": null,
"transcript": "ENST00000490936.5",
"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": 5374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.5266G>A",
"hgvs_p": "p.Ala1756Thr",
"transcript": "NM_001456.4",
"protein_id": "NP_001447.2",
"transcript_support_level": null,
"aa_start": 1756,
"aa_end": null,
"aa_length": 2639,
"cds_start": 5266,
"cds_end": null,
"cds_length": 7920,
"cdna_start": 5511,
"cdna_end": null,
"cdna_length": 8483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.136G>A",
"hgvs_p": "p.Ala46Thr",
"transcript": "ENST00000438732.2",
"protein_id": "ENSP00000398215.1",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 230,
"cds_start": 136,
"cds_end": null,
"cds_length": 694,
"cdna_start": 138,
"cdna_end": null,
"cdna_length": 696,
"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": 31,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.*3431G>A",
"hgvs_p": null,
"transcript": "ENST00000420627.5",
"protein_id": "ENSP00000408921.1",
"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": 8225,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.42G>A",
"hgvs_p": null,
"transcript": "ENST00000474072.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 430,
"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": 32,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.*3898G>A",
"hgvs_p": null,
"transcript": "ENST00000610817.5",
"protein_id": "ENSP00000480593.2",
"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": 8319,
"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": 31,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.*3898G>A",
"hgvs_p": null,
"transcript": "ENST00000676696.1",
"protein_id": "ENSP00000503392.1",
"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": 8541,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.469G>A",
"hgvs_p": null,
"transcript": "ENST00000678304.1",
"protein_id": null,
"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": 3982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.*3431G>A",
"hgvs_p": null,
"transcript": "ENST00000420627.5",
"protein_id": "ENSP00000408921.1",
"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": 8225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.*3898G>A",
"hgvs_p": null,
"transcript": "ENST00000610817.5",
"protein_id": "ENSP00000480593.2",
"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": 8319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.*3898G>A",
"hgvs_p": null,
"transcript": "ENST00000676696.1",
"protein_id": "ENSP00000503392.1",
"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": 8541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.3161-1964G>A",
"hgvs_p": null,
"transcript": "ENST00000422373.6",
"protein_id": "ENSP00000416926.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1574,
"cds_start": -4,
"cds_end": null,
"cds_length": 4725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.278-5949G>A",
"hgvs_p": null,
"transcript": "ENST00000673639.2",
"protein_id": "ENSP00000501210.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": -4,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"dbsnp": "rs57108893",
"frequency_reference_population": 0.00735106,
"hom_count_reference_population": 2793,
"allele_count_reference_population": 8850,
"gnomad_exomes_af": 0.00421325,
"gnomad_genomes_af": 0.0376247,
"gnomad_exomes_ac": 4596,
"gnomad_genomes_ac": 4254,
"gnomad_exomes_homalt": 211,
"gnomad_genomes_homalt": 177,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0013102889060974121,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.0688,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.772,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000369850.10",
"gene_symbol": "FLNA",
"hgnc_id": 3754,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD,AR",
"hgvs_c": "c.5290G>A",
"hgvs_p": "p.Ala1764Thr"
}
],
"clinvar_disease": " X-linked dominant, periventricular, type II,Familial thoracic aortic aneurysm and aortic dissection,Frontometaphyseal dysplasia,Heterotopia,Melnick-Needles syndrome,Oto-palato-digital syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:9",
"phenotype_combined": "not specified|not provided|Familial thoracic aortic aneurysm and aortic dissection|Melnick-Needles syndrome;Heterotopia, periventricular, X-linked dominant;Frontometaphyseal dysplasia;Oto-palato-digital syndrome, type II",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}