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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: 22-46218336-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=46218336&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 46218336,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005036.6",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "NM_005036.6",
"protein_id": "NP_005027.2",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000407236.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005036.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "ENST00000407236.6",
"protein_id": "ENSP00000385523.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005036.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407236.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "ENST00000402126.2",
"protein_id": "ENSP00000385246.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402126.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "n.653A>G",
"hgvs_p": null,
"transcript": "ENST00000493286.1",
"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": "retained_intron",
"feature": "ENST00000493286.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "NM_001001928.4",
"protein_id": "NP_001001928.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001928.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "NM_001001929.3",
"protein_id": "NP_001001929.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001929.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "NM_001362872.2",
"protein_id": "NP_001349801.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362872.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "NM_001362873.3",
"protein_id": "NP_001349802.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362873.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "NM_001393941.1",
"protein_id": "NP_001380870.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393941.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "NM_001393942.1",
"protein_id": "NP_001380871.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393942.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "NM_001393943.1",
"protein_id": "NP_001380872.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393943.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "NM_001393944.1",
"protein_id": "NP_001380873.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393944.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "NM_001393945.1",
"protein_id": "NP_001380874.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393945.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "ENST00000873468.1",
"protein_id": "ENSP00000543527.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873468.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "ENST00000873469.1",
"protein_id": "ENSP00000543528.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873469.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "ENST00000873470.1",
"protein_id": "ENSP00000543529.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873470.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "ENST00000873471.1",
"protein_id": "ENSP00000543530.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873471.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "ENST00000873472.1",
"protein_id": "ENSP00000543531.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873472.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "ENST00000873473.1",
"protein_id": "ENSP00000543532.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873473.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "ENST00000873475.1",
"protein_id": "ENSP00000543534.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873475.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "ENST00000873477.1",
"protein_id": "ENSP00000543536.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873477.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "ENST00000873478.1",
"protein_id": "ENSP00000543537.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 468,
"cds_start": 443,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873478.1"
},
{
"aa_ref": "K",
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"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg",
"transcript": "XM_047441430.1",
"protein_id": "XP_047297386.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 174,
"cds_start": 443,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441430.1"
}
],
"gene_symbol": "PPARA",
"gene_hgnc_id": 9232,
"dbsnp": "rs759044698",
"frequency_reference_population": 0.0000037173893,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.0000027362,
"gnomad_genomes_af": 0.0000131444,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.45829442143440247,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.533,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1562,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.241,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_005036.6",
"gene_symbol": "PPARA",
"hgnc_id": 9232,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.443A>G",
"hgvs_p": "p.Lys148Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}