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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: 2-105363302-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=105363302&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 105363302,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001450.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "NM_001318895.3",
"protein_id": "NP_001305824.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000530340.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318895.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "ENST00000530340.6",
"protein_id": "ENSP00000433567.2",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001318895.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530340.6"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "ENST00000322142.13",
"protein_id": "ENSP00000322909.8",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "ENST00000322142.13"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "ENST00000344213.9",
"protein_id": "ENSP00000344266.5",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "ENST00000344213.9"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "ENST00000393352.7",
"protein_id": "ENSP00000377020.3",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "ENST00000393352.7"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "ENST00000393353.7",
"protein_id": "ENSP00000377021.3",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "ENST00000393353.7"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "ENST00000409177.6",
"protein_id": "ENSP00000386892.3",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "ENST00000409177.6"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "ENST00000409807.5",
"protein_id": "ENSP00000386665.1",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "ENST00000409807.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000238273",
"gene_hgnc_id": null,
"hgvs_c": "n.40+225C>T",
"hgvs_p": null,
"transcript": "ENST00000457290.2",
"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": "ENST00000457290.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Cys276Tyr",
"transcript": "ENST00000971465.1",
"protein_id": "ENSP00000641524.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 331,
"cds_start": 827,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971465.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.827G>A",
"hgvs_p": "p.Cys276Tyr",
"transcript": "ENST00000971473.1",
"protein_id": "ENSP00000641532.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 331,
"cds_start": 827,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971473.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "NM_001039492.3",
"protein_id": "NP_001034581.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "NM_001039492.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "NM_001318894.1",
"protein_id": "NP_001305823.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "NM_001318894.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "NM_001318896.2",
"protein_id": "NP_001305825.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "NM_001318896.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "NM_001374399.1",
"protein_id": "NP_001361328.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "NM_001374399.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "NM_001450.4",
"protein_id": "NP_001441.4",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "NM_001450.4"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "NM_201555.3",
"protein_id": "NP_963849.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "NM_201555.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "NM_201557.5",
"protein_id": "NP_963851.2",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "NM_201557.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "ENST00000408995.5",
"protein_id": "ENSP00000386633.1",
"transcript_support_level": 2,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "ENST00000408995.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "ENST00000876103.1",
"protein_id": "ENSP00000546162.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "ENST00000876103.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "ENST00000876104.1",
"protein_id": "ENSP00000546163.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "ENST00000876104.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHL2",
"gene_hgnc_id": 3703,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Cys224Tyr",
"transcript": "ENST00000876105.1",
"protein_id": "ENSP00000546164.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 279,
"cds_start": 671,
"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": "ENST00000876105.1"
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{
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"verdict": "Likely_pathogenic",
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{
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}
],
"message": null
}