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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: 2-105361300-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=105361300&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 105361300,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001450.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "NM_001318895.3",
"protein_id": "NP_001305824.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": "ENST00000530340.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318895.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "ENST00000530340.6",
"protein_id": "ENSP00000433567.2",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": "NM_001318895.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530340.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "ENST00000322142.13",
"protein_id": "ENSP00000322909.8",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322142.13"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "ENST00000344213.9",
"protein_id": "ENSP00000344266.5",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344213.9"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "ENST00000393352.7",
"protein_id": "ENSP00000377020.3",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393352.7"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "ENST00000393353.7",
"protein_id": "ENSP00000377021.3",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393353.7"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "ENST00000409177.6",
"protein_id": "ENSP00000386892.3",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 4881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409177.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "ENST00000409807.5",
"protein_id": "ENSP00000386665.1",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409807.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.979T>C",
"hgvs_p": "p.Cys327Arg",
"transcript": "ENST00000971465.1",
"protein_id": "ENSP00000641524.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 331,
"cds_start": 979,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971465.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.979T>C",
"hgvs_p": "p.Cys327Arg",
"transcript": "ENST00000971473.1",
"protein_id": "ENSP00000641532.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 331,
"cds_start": 979,
"cds_end": null,
"cds_length": 996,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971473.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "NM_001039492.3",
"protein_id": "NP_001034581.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 4568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039492.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "NM_001318894.1",
"protein_id": "NP_001305823.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 1767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318894.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "NM_001318896.2",
"protein_id": "NP_001305825.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 4517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318896.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "NM_001374399.1",
"protein_id": "NP_001361328.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 1503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374399.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "NM_001450.4",
"protein_id": "NP_001441.4",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001450.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "NM_201555.3",
"protein_id": "NP_963849.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 1703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201555.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "NM_201557.5",
"protein_id": "NP_963851.2",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 1436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201557.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "ENST00000408995.5",
"protein_id": "ENSP00000386633.1",
"transcript_support_level": 2,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 1367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408995.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "ENST00000876103.1",
"protein_id": "ENSP00000546162.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 1573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876103.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "ENST00000876104.1",
"protein_id": "ENSP00000546163.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 2534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876104.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "ENST00000876105.1",
"protein_id": "ENSP00000546164.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876105.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.823T>C",
"hgvs_p": "p.Cys275Arg",
"transcript": "ENST00000876106.1",
"protein_id": "ENSP00000546165.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 279,
"cds_start": 823,
"cds_end": null,
"cds_length": 840,
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{
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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{
"score": 4,
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"PP3_Moderate"
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"verdict": "Uncertain_significance",
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}