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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: 22-44185808-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=44185808&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 44185808,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_022141.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "NM_022141.7",
"protein_id": "NP_071424.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 331,
"cds_start": 80,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000444313.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022141.7"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000444313.8",
"protein_id": "ENSP00000391583.2",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 331,
"cds_start": 80,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022141.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444313.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "n.300G>A",
"hgvs_p": null,
"transcript": "ENST00000453888.7",
"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": "ENST00000453888.7"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000964885.1",
"protein_id": "ENSP00000634944.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 349,
"cds_start": 80,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964885.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000877232.1",
"protein_id": "ENSP00000547291.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 338,
"cds_start": 80,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877232.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000877238.1",
"protein_id": "ENSP00000547297.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 338,
"cds_start": 80,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877238.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000964877.1",
"protein_id": "ENSP00000634936.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 338,
"cds_start": 80,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964877.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000964878.1",
"protein_id": "ENSP00000634937.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 334,
"cds_start": 80,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964878.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000877234.1",
"protein_id": "ENSP00000547293.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 332,
"cds_start": 80,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877234.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000964876.1",
"protein_id": "ENSP00000634935.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 332,
"cds_start": 80,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964876.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "NM_001137605.3",
"protein_id": "NP_001131077.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 331,
"cds_start": 80,
"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": "NM_001137605.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000422871.5",
"protein_id": "ENSP00000391453.1",
"transcript_support_level": 5,
"aa_start": 27,
"aa_end": null,
"aa_length": 331,
"cds_start": 80,
"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": "ENST00000422871.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000877233.1",
"protein_id": "ENSP00000547292.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 331,
"cds_start": 80,
"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": "ENST00000877233.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000877235.1",
"protein_id": "ENSP00000547294.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 331,
"cds_start": 80,
"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": "ENST00000877235.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000877236.1",
"protein_id": "ENSP00000547295.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 331,
"cds_start": 80,
"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": "ENST00000877236.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000877237.1",
"protein_id": "ENSP00000547296.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 331,
"cds_start": 80,
"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": "ENST00000877237.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000877239.1",
"protein_id": "ENSP00000547298.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 331,
"cds_start": 80,
"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": "ENST00000877239.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000877240.1",
"protein_id": "ENSP00000547299.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 331,
"cds_start": 80,
"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": "ENST00000877240.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000877241.1",
"protein_id": "ENSP00000547300.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 331,
"cds_start": 80,
"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": "ENST00000877241.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000877243.1",
"protein_id": "ENSP00000547302.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 331,
"cds_start": 80,
"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": "ENST00000877243.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000877244.1",
"protein_id": "ENSP00000547303.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 331,
"cds_start": 80,
"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": "ENST00000877244.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARVG",
"gene_hgnc_id": 14654,
"hgvs_c": "c.80G>A",
"hgvs_p": "p.Gly27Glu",
"transcript": "ENST00000964879.1",
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{
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}