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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: 9-19380191-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=19380191&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 19380191,
"ref": "T",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001010.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "NM_001010.3",
"protein_id": "NP_001001.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 249,
"cds_start": 5,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380394.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010.3"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000380394.9",
"protein_id": "ENSP00000369757.4",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 249,
"cds_start": 5,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001010.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380394.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.-660A>C",
"hgvs_p": null,
"transcript": "ENST00000380384.5",
"protein_id": "ENSP00000369745.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380384.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000889073.1",
"protein_id": "ENSP00000559132.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 257,
"cds_start": 5,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889073.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000919423.1",
"protein_id": "ENSP00000589482.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 256,
"cds_start": 5,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919423.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000948755.1",
"protein_id": "ENSP00000618814.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 255,
"cds_start": 5,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948755.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000948752.1",
"protein_id": "ENSP00000618811.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 250,
"cds_start": 5,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948752.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000889074.1",
"protein_id": "ENSP00000559133.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 248,
"cds_start": 5,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889074.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000948753.1",
"protein_id": "ENSP00000618812.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 246,
"cds_start": 5,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948753.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000948751.1",
"protein_id": "ENSP00000618810.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 245,
"cds_start": 5,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948751.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000919422.1",
"protein_id": "ENSP00000589481.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 242,
"cds_start": 5,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919422.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000889075.1",
"protein_id": "ENSP00000559134.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 231,
"cds_start": 5,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889075.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000889072.1",
"protein_id": "ENSP00000559131.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 230,
"cds_start": 5,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889072.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000919427.1",
"protein_id": "ENSP00000589486.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 228,
"cds_start": 5,
"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": "ENST00000919427.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000948750.1",
"protein_id": "ENSP00000618809.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 220,
"cds_start": 5,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948750.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000919421.1",
"protein_id": "ENSP00000589480.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 219,
"cds_start": 5,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919421.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000919425.1",
"protein_id": "ENSP00000589484.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 215,
"cds_start": 5,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919425.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000919424.1",
"protein_id": "ENSP00000589483.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 210,
"cds_start": 5,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919424.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000889076.1",
"protein_id": "ENSP00000559135.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 205,
"cds_start": 5,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889076.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000919420.1",
"protein_id": "ENSP00000589479.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 204,
"cds_start": 5,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919420.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.5A>C",
"hgvs_p": "p.Lys2Thr",
"transcript": "ENST00000889077.1",
"protein_id": "ENSP00000559136.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 200,
"cds_start": 5,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889077.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "RPS6",
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"computational_prediction_selected": "Pathogenic",
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"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}