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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: 2-105363397-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=105363397&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FHL2",
"hgnc_id": 3703,
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001450.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000238273",
"hgnc_id": null,
"hgvs_c": "n.40+320C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000457290.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "C2orf49",
"hgnc_id": 28772,
"hgvs_c": "n.765+18008C>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "XR_007081585.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.3398,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1819087266921997,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1582,
"cdna_start": 861,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001318895.3",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000530340.6",
"protein_coding": true,
"protein_id": "NP_001305824.1",
"strand": false,
"transcript": "NM_001318895.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1582,
"cdna_start": 861,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000530340.6",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001318895.3",
"protein_coding": true,
"protein_id": "ENSP00000433567.2",
"strand": false,
"transcript": "ENST00000530340.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": 743,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000322142.13",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322909.8",
"strand": false,
"transcript": "ENST00000322142.13",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000344213.9",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344266.5",
"strand": false,
"transcript": "ENST00000344213.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1426,
"cdna_start": 705,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000393352.7",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377020.3",
"strand": false,
"transcript": "ENST00000393352.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1531,
"cdna_start": 810,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000393353.7",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377021.3",
"strand": false,
"transcript": "ENST00000393353.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4881,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000409177.6",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386892.3",
"strand": false,
"transcript": "ENST00000409177.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1601,
"cdna_start": 911,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000409807.5",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386665.1",
"strand": false,
"transcript": "ENST00000409807.5",
"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": 2044,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000457290.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000238273",
"hgvs_c": "n.40+320C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000457290.2",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1636,
"cdna_start": 919,
"cds_end": null,
"cds_length": 996,
"cds_start": 732,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000971465.1",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.732G>T",
"hgvs_p": "p.Arg244Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641524.1",
"strand": false,
"transcript": "ENST00000971465.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": 961,
"cds_end": null,
"cds_length": 996,
"cds_start": 732,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000971473.1",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.732G>T",
"hgvs_p": "p.Arg244Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641532.1",
"strand": false,
"transcript": "ENST00000971473.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4568,
"cdna_start": 733,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001039492.3",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001034581.1",
"strand": false,
"transcript": "NM_001039492.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001318894.1",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305823.1",
"strand": false,
"transcript": "NM_001318894.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4517,
"cdna_start": 682,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001318896.2",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305825.1",
"strand": false,
"transcript": "NM_001318896.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1503,
"cdna_start": 782,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001374399.1",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361328.1",
"strand": false,
"transcript": "NM_001374399.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4645,
"cdna_start": 810,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001450.4",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001441.4",
"strand": false,
"transcript": "NM_001450.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1703,
"cdna_start": 982,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_201555.3",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963849.1",
"strand": false,
"transcript": "NM_201555.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1436,
"cdna_start": 715,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_201557.5",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963851.2",
"strand": false,
"transcript": "NM_201557.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1367,
"cdna_start": 681,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000408995.5",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386633.1",
"strand": false,
"transcript": "ENST00000408995.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 279,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1573,
"cdna_start": 838,
"cds_end": null,
"cds_length": 840,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000876103.1",
"gene_hgnc_id": 3703,
"gene_symbol": "FHL2",
"hgvs_c": "c.576G>T",
"hgvs_p": "p.Arg192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546162.1",
"strand": false,
"transcript": "ENST00000876103.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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