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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: 1-37997454-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=37997454&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FHL3",
"hgnc_id": 3704,
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_004468.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 137,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2653,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.02224448323249817,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 280,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1656,
"cdna_start": 972,
"cds_end": null,
"cds_length": 843,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_004468.5",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373016.4",
"protein_coding": true,
"protein_id": "NP_004459.2",
"strand": false,
"transcript": "NM_004468.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 280,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1656,
"cdna_start": 972,
"cds_end": null,
"cds_length": 843,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000373016.4",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004468.5",
"protein_coding": true,
"protein_id": "ENSP00000362107.3",
"strand": false,
"transcript": "ENST00000373016.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1468,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000485803.5",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "n.784C>T",
"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": "ENST00000485803.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 280,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1662,
"cdna_start": 972,
"cds_end": null,
"cds_length": 843,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000850578.1",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520866.1",
"strand": false,
"transcript": "ENST00000850578.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 280,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1559,
"cdna_start": 875,
"cds_end": null,
"cds_length": 843,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882670.1",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552729.1",
"strand": false,
"transcript": "ENST00000882670.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 280,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1592,
"cdna_start": 903,
"cds_end": null,
"cds_length": 843,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882671.1",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552730.1",
"strand": false,
"transcript": "ENST00000882671.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 280,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1605,
"cdna_start": 918,
"cds_end": null,
"cds_length": 843,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882672.1",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552731.1",
"strand": false,
"transcript": "ENST00000882672.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 280,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 843,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882674.1",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552733.1",
"strand": false,
"transcript": "ENST00000882674.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 280,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5182,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 843,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882675.1",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552734.1",
"strand": false,
"transcript": "ENST00000882675.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 280,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 843,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000938707.1",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608766.1",
"strand": false,
"transcript": "ENST00000938707.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 280,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": 948,
"cds_end": null,
"cds_length": 843,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956053.1",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626112.1",
"strand": false,
"transcript": "ENST00000956053.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 280,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1605,
"cdna_start": 918,
"cds_end": null,
"cds_length": 843,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956054.1",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626113.1",
"strand": false,
"transcript": "ENST00000956054.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 280,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1650,
"cdna_start": 969,
"cds_end": null,
"cds_length": 843,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956055.1",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626114.1",
"strand": false,
"transcript": "ENST00000956055.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 280,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1537,
"cdna_start": 850,
"cds_end": null,
"cds_length": 843,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956056.1",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626115.1",
"strand": false,
"transcript": "ENST00000956056.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 280,
"aa_ref": "P",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 843,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956059.1",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.794C>T",
"hgvs_p": "p.Pro265Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626118.1",
"strand": false,
"transcript": "ENST00000956059.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 279,
"aa_ref": "P",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1577,
"cdna_start": 887,
"cds_end": null,
"cds_length": 840,
"cds_start": 791,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000938708.1",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Pro264Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608767.1",
"strand": false,
"transcript": "ENST00000938708.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 279,
"aa_ref": "P",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": 944,
"cds_end": null,
"cds_length": 840,
"cds_start": 791,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956058.1",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Pro264Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626117.1",
"strand": false,
"transcript": "ENST00000956058.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 264,
"aa_ref": "P",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1606,
"cdna_start": 924,
"cds_end": null,
"cds_length": 795,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882673.1",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Pro249Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552732.1",
"strand": false,
"transcript": "ENST00000882673.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 172,
"aa_ref": "P",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1480,
"cdna_start": 796,
"cds_end": null,
"cds_length": 519,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001243878.2",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Pro157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230807.1",
"strand": false,
"transcript": "NM_001243878.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 165,
"aa_ref": "P",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1312,
"cdna_start": 628,
"cds_end": null,
"cds_length": 498,
"cds_start": 449,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000956057.1",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Pro150Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626116.1",
"strand": false,
"transcript": "ENST00000956057.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 882,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000475084.5",
"gene_hgnc_id": 3704,
"gene_symbol": "FHL3",
"hgvs_c": "n.614C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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{
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]
}