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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: 1-27617254-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=27617254&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 27617254,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005248.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "NM_005248.3",
"protein_id": "NP_005239.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374005.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005248.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000374005.8",
"protein_id": "ENSP00000363117.3",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005248.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374005.8"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000374004.5",
"protein_id": "ENSP00000363116.1",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374004.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000968119.1",
"protein_id": "ENSP00000638178.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 534,
"cds_start": 471,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968119.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "NM_001042729.2",
"protein_id": "NP_001036194.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042729.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "NM_001042747.2",
"protein_id": "NP_001036212.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042747.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000374003.7",
"protein_id": "ENSP00000363115.3",
"transcript_support_level": 2,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374003.7"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000399173.5",
"protein_id": "ENSP00000382126.1",
"transcript_support_level": 5,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399173.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000859115.1",
"protein_id": "ENSP00000529174.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859115.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000859116.1",
"protein_id": "ENSP00000529175.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859116.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000859117.1",
"protein_id": "ENSP00000529176.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859117.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000859118.1",
"protein_id": "ENSP00000529177.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859118.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000859121.1",
"protein_id": "ENSP00000529180.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859121.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000859122.1",
"protein_id": "ENSP00000529181.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859122.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000859123.1",
"protein_id": "ENSP00000529182.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859123.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000859124.1",
"protein_id": "ENSP00000529183.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859124.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000859125.1",
"protein_id": "ENSP00000529184.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859125.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000859127.1",
"protein_id": "ENSP00000529186.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859127.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000859128.1",
"protein_id": "ENSP00000529187.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859128.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000859129.1",
"protein_id": "ENSP00000529188.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859129.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000859131.1",
"protein_id": "ENSP00000529190.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859131.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGR",
"gene_hgnc_id": 3697,
"hgvs_c": "c.471G>C",
"hgvs_p": "p.Gln157His",
"transcript": "ENST00000968122.1",
"protein_id": "ENSP00000638181.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 529,
"cds_start": 471,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968122.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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],
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"clinvar_classification": "Uncertain significance",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}