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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: 8-100522569-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=100522569&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 100522569,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198401.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "NM_001270377.2",
"protein_id": "NP_001257306.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335659.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270377.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000335659.7",
"protein_id": "ENSP00000335287.3",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001270377.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335659.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000519597.5",
"protein_id": "ENSP00000430056.1",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519597.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.636+37G>A",
"hgvs_p": null,
"transcript": "ENST00000520552.5",
"protein_id": "ENSP00000429015.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 232,
"cds_start": null,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520552.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "NM_001270378.2",
"protein_id": "NP_001257307.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270378.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "NM_198401.4",
"protein_id": "NP_940683.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198401.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000520311.5",
"protein_id": "ENSP00000428388.1",
"transcript_support_level": 2,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520311.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000862175.1",
"protein_id": "ENSP00000532234.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862175.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000862176.1",
"protein_id": "ENSP00000532235.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862176.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000862177.1",
"protein_id": "ENSP00000532236.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862177.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000862178.1",
"protein_id": "ENSP00000532237.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862178.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000862179.1",
"protein_id": "ENSP00000532238.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862179.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000862180.1",
"protein_id": "ENSP00000532239.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862180.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000862181.1",
"protein_id": "ENSP00000532240.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862181.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000862182.1",
"protein_id": "ENSP00000532241.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862182.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000862183.1",
"protein_id": "ENSP00000532242.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862183.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000862184.1",
"protein_id": "ENSP00000532243.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862184.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000862185.1",
"protein_id": "ENSP00000532244.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862185.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000862186.1",
"protein_id": "ENSP00000532245.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862186.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000862187.1",
"protein_id": "ENSP00000532246.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862187.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000862188.1",
"protein_id": "ENSP00000532247.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862188.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD46",
"gene_hgnc_id": 27229,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000862189.1",
"protein_id": "ENSP00000532248.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 228,
"cds_start": 673,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862189.1"
},
{
"aa_ref": "E",
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}