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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: 1-37997524-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=37997524&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 37997524,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_004468.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*",
"transcript": "NM_004468.5",
"protein_id": "NP_004459.2",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 280,
"cds_start": 724,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373016.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004468.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*",
"transcript": "ENST00000373016.4",
"protein_id": "ENSP00000362107.3",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 280,
"cds_start": 724,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004468.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373016.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "n.714C>T",
"hgvs_p": null,
"transcript": "ENST00000485803.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485803.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*",
"transcript": "ENST00000850578.1",
"protein_id": "ENSP00000520866.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 280,
"cds_start": 724,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850578.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*",
"transcript": "ENST00000882670.1",
"protein_id": "ENSP00000552729.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 280,
"cds_start": 724,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882670.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*",
"transcript": "ENST00000882671.1",
"protein_id": "ENSP00000552730.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 280,
"cds_start": 724,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882671.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*",
"transcript": "ENST00000882672.1",
"protein_id": "ENSP00000552731.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 280,
"cds_start": 724,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882672.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*",
"transcript": "ENST00000882674.1",
"protein_id": "ENSP00000552733.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 280,
"cds_start": 724,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882674.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*",
"transcript": "ENST00000882675.1",
"protein_id": "ENSP00000552734.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 280,
"cds_start": 724,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882675.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*",
"transcript": "ENST00000938707.1",
"protein_id": "ENSP00000608766.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 280,
"cds_start": 724,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938707.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*",
"transcript": "ENST00000956053.1",
"protein_id": "ENSP00000626112.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 280,
"cds_start": 724,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956053.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*",
"transcript": "ENST00000956054.1",
"protein_id": "ENSP00000626113.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 280,
"cds_start": 724,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956054.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*",
"transcript": "ENST00000956055.1",
"protein_id": "ENSP00000626114.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 280,
"cds_start": 724,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956055.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*",
"transcript": "ENST00000956056.1",
"protein_id": "ENSP00000626115.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 280,
"cds_start": 724,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956056.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*",
"transcript": "ENST00000956059.1",
"protein_id": "ENSP00000626118.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 280,
"cds_start": 724,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956059.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241*",
"transcript": "ENST00000938708.1",
"protein_id": "ENSP00000608767.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 279,
"cds_start": 721,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938708.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.721C>T",
"hgvs_p": "p.Arg241*",
"transcript": "ENST00000956058.1",
"protein_id": "ENSP00000626117.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 279,
"cds_start": 721,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956058.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.676C>T",
"hgvs_p": "p.Arg226*",
"transcript": "ENST00000882673.1",
"protein_id": "ENSP00000552732.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 264,
"cds_start": 676,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882673.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Arg134*",
"transcript": "NM_001243878.2",
"protein_id": "NP_001230807.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 172,
"cds_start": 400,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243878.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127*",
"transcript": "ENST00000956057.1",
"protein_id": "ENSP00000626116.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 165,
"cds_start": 379,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956057.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "n.544C>T",
"hgvs_p": null,
"transcript": "ENST00000475084.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000475084.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"hgvs_c": "n.912C>T",
"hgvs_p": null,
"transcript": "ENST00000477194.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000477194.5"
}
],
"gene_symbol": "FHL3",
"gene_hgnc_id": 3704,
"dbsnp": "rs779204510",
"frequency_reference_population": 0.0000012401377,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84221e-7,
"gnomad_genomes_af": 0.00000661341,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5299999713897705,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.53,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.952,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004468.5",
"gene_symbol": "FHL3",
"hgnc_id": 3704,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.724C>T",
"hgvs_p": "p.Arg242*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}