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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: 9-19376509-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=19376509&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RPS6",
"hgnc_id": 10429,
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Leu213Phe",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001010.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 25,
"alphamissense_prediction": null,
"alphamissense_score": 0.9257,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7284626960754395,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 249,
"aa_ref": "L",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1369,
"cdna_start": 680,
"cds_end": null,
"cds_length": 750,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001010.3",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Leu213Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380394.9",
"protein_coding": true,
"protein_id": "NP_001001.2",
"strand": false,
"transcript": "NM_001010.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 249,
"aa_ref": "L",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1369,
"cdna_start": 680,
"cds_end": null,
"cds_length": 750,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000380394.9",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Leu213Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001010.3",
"protein_coding": true,
"protein_id": "ENSP00000369757.4",
"strand": false,
"transcript": "ENST00000380394.9",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 218,
"aa_ref": "L",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1355,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 657,
"cds_start": 546,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000380384.5",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.546G>C",
"hgvs_p": "p.Leu182Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369745.1",
"strand": false,
"transcript": "ENST00000380384.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 257,
"aa_ref": "L",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 860,
"cdna_start": 711,
"cds_end": null,
"cds_length": 774,
"cds_start": 663,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889073.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.663G>C",
"hgvs_p": "p.Leu221Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559132.1",
"strand": false,
"transcript": "ENST00000889073.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 256,
"aa_ref": "L",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 857,
"cdna_start": 711,
"cds_end": null,
"cds_length": 771,
"cds_start": 663,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919423.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.663G>C",
"hgvs_p": "p.Leu221Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589482.1",
"strand": false,
"transcript": "ENST00000919423.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 255,
"aa_ref": "L",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 837,
"cdna_start": 697,
"cds_end": null,
"cds_length": 768,
"cds_start": 660,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948755.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Leu220Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618814.1",
"strand": false,
"transcript": "ENST00000948755.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 250,
"aa_ref": "L",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 833,
"cdna_start": 684,
"cds_end": null,
"cds_length": 753,
"cds_start": 642,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948752.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.642G>C",
"hgvs_p": "p.Leu214Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618811.1",
"strand": false,
"transcript": "ENST00000948752.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 248,
"aa_ref": "L",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 833,
"cdna_start": 684,
"cds_end": null,
"cds_length": 747,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889074.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.636G>C",
"hgvs_p": "p.Leu212Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559133.1",
"strand": false,
"transcript": "ENST00000889074.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 246,
"aa_ref": "L",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 820,
"cdna_start": 680,
"cds_end": null,
"cds_length": 741,
"cds_start": 639,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948753.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Leu213Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618812.1",
"strand": false,
"transcript": "ENST00000948753.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 245,
"aa_ref": "L",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 818,
"cdna_start": 678,
"cds_end": null,
"cds_length": 738,
"cds_start": 636,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948751.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.636G>C",
"hgvs_p": "p.Leu212Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618810.1",
"strand": false,
"transcript": "ENST00000948751.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 242,
"aa_ref": "L",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 821,
"cdna_start": 660,
"cds_end": null,
"cds_length": 729,
"cds_start": 618,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919422.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.618G>C",
"hgvs_p": "p.Leu206Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589481.1",
"strand": false,
"transcript": "ENST00000919422.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 231,
"aa_ref": "L",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 782,
"cdna_start": 633,
"cds_end": null,
"cds_length": 696,
"cds_start": 585,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889075.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.585G>C",
"hgvs_p": "p.Leu195Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559134.1",
"strand": false,
"transcript": "ENST00000889075.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 230,
"aa_ref": "L",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 818,
"cdna_start": 669,
"cds_end": null,
"cds_length": 693,
"cds_start": 582,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889072.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.582G>C",
"hgvs_p": "p.Leu194Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559131.1",
"strand": false,
"transcript": "ENST00000889072.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 228,
"aa_ref": "L",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 766,
"cdna_start": 617,
"cds_end": null,
"cds_length": 687,
"cds_start": 576,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919427.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.576G>C",
"hgvs_p": "p.Leu192Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589486.1",
"strand": false,
"transcript": "ENST00000919427.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 220,
"aa_ref": "L",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 745,
"cdna_start": 596,
"cds_end": null,
"cds_length": 663,
"cds_start": 552,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948750.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.552G>C",
"hgvs_p": "p.Leu184Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618809.1",
"strand": false,
"transcript": "ENST00000948750.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 219,
"aa_ref": "L",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 768,
"cdna_start": 619,
"cds_end": null,
"cds_length": 660,
"cds_start": 549,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919421.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589480.1",
"strand": false,
"transcript": "ENST00000919421.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 218,
"aa_ref": "L",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 863,
"cdna_start": 744,
"cds_end": null,
"cds_length": 657,
"cds_start": 546,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000315377.4",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.546G>C",
"hgvs_p": "p.Leu182Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369743.1",
"strand": false,
"transcript": "ENST00000315377.4",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 215,
"aa_ref": "L",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 733,
"cdna_start": 584,
"cds_end": null,
"cds_length": 648,
"cds_start": 537,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919425.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.537G>C",
"hgvs_p": "p.Leu179Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589484.1",
"strand": false,
"transcript": "ENST00000919425.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 210,
"aa_ref": "L",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 718,
"cdna_start": 569,
"cds_end": null,
"cds_length": 633,
"cds_start": 522,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919424.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.522G>C",
"hgvs_p": "p.Leu174Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589483.1",
"strand": false,
"transcript": "ENST00000919424.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 205,
"aa_ref": "L",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 701,
"cdna_start": 555,
"cds_end": null,
"cds_length": 618,
"cds_start": 507,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889076.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.507G>C",
"hgvs_p": "p.Leu169Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559135.1",
"strand": false,
"transcript": "ENST00000889076.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 204,
"aa_ref": "L",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 727,
"cdna_start": 578,
"cds_end": null,
"cds_length": 615,
"cds_start": 504,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919420.1",
"gene_hgnc_id": 10429,
"gene_symbol": "RPS6",
"hgvs_c": "c.504G>C",
"hgvs_p": "p.Leu168Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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}