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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: 4-152829682-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=152829682&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 152829682,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001025595.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "NM_001025595.3",
"protein_id": "NP_001020766.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 3542,
"mane_select": "ENST00000353617.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025595.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000353617.7",
"protein_id": "ENSP00000296557.4",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 3542,
"mane_select": "NM_001025595.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353617.7"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000451320.6",
"protein_id": "ENSP00000395083.2",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451320.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000356064.3",
"protein_id": "ENSP00000348360.3",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 341,
"cds_start": 49,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356064.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000405727.6",
"protein_id": "ENSP00000384189.2",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 341,
"cds_start": 49,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405727.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000891691.1",
"protein_id": "ENSP00000561750.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 390,
"cds_start": 49,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891691.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "NM_001287431.2",
"protein_id": "NP_001274360.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287431.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "NM_001287432.2",
"protein_id": "NP_001274361.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 3659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287432.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000891683.1",
"protein_id": "ENSP00000561742.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891683.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000891684.1",
"protein_id": "ENSP00000561743.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891684.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000891688.1",
"protein_id": "ENSP00000561747.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 2998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891688.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000891689.1",
"protein_id": "ENSP00000561748.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891689.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000891692.1",
"protein_id": "ENSP00000561751.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891692.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000891693.1",
"protein_id": "ENSP00000561752.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891693.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000891694.1",
"protein_id": "ENSP00000561753.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891694.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000891696.1",
"protein_id": "ENSP00000561755.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 2932,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891696.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000891699.1",
"protein_id": "ENSP00000561758.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891699.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000891700.1",
"protein_id": "ENSP00000561759.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 3014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891700.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000891701.1",
"protein_id": "ENSP00000561760.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 1550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891701.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000891702.1",
"protein_id": "ENSP00000561761.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 1534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891702.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000891703.1",
"protein_id": "ENSP00000561762.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891703.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARFIP1",
"gene_hgnc_id": 21496,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ser17Gly",
"transcript": "ENST00000914065.1",
"protein_id": "ENSP00000584124.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 373,
"cds_start": 49,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 285,
"cdna_end": null,
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}