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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: 10-78035589-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=78035589&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RPS24",
"hgnc_id": 10411,
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001142285.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9898,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"chr": "10",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Diamond-Blackfan anemia 3",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7418940663337708,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 130,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 534,
"cdna_start": 187,
"cds_end": null,
"cds_length": 393,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_033022.4",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372360.9",
"protein_coding": true,
"protein_id": "NP_148982.1",
"strand": true,
"transcript": "NM_033022.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 130,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 534,
"cdna_start": 187,
"cds_end": null,
"cds_length": 393,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000372360.9",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033022.4",
"protein_coding": true,
"protein_id": "ENSP00000361435.4",
"strand": true,
"transcript": "ENST00000372360.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 131,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 537,
"cdna_start": 187,
"cds_end": null,
"cds_length": 396,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000360830.9",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354074.5",
"strand": true,
"transcript": "ENST00000360830.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 131,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 656,
"cdna_start": 290,
"cds_end": null,
"cds_length": 396,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000435275.5",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415549.1",
"strand": true,
"transcript": "ENST00000435275.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1008,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000478655.6",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "n.187A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000478655.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 289,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": 187,
"cds_end": null,
"cds_length": 870,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001142285.2",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135757.1",
"strand": true,
"transcript": "NM_001142285.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 289,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 187,
"cds_end": null,
"cds_length": 870,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000440692.6",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414321.1",
"strand": true,
"transcript": "ENST00000440692.6",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 183,
"aa_ref": "T",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 694,
"cdna_start": 347,
"cds_end": null,
"cds_length": 552,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000913452.1",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.307A>C",
"hgvs_p": "p.Thr103Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583511.1",
"strand": true,
"transcript": "ENST00000913452.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 174,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 666,
"cdna_start": 187,
"cds_end": null,
"cds_length": 525,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000913453.1",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583512.1",
"strand": true,
"transcript": "ENST00000913453.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 133,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 512,
"cdna_start": 187,
"cds_end": null,
"cds_length": 402,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001026.5",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001017.1",
"strand": true,
"transcript": "NM_001026.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 133,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 634,
"cdna_start": 290,
"cds_end": null,
"cds_length": 402,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000613865.5",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478869.2",
"strand": true,
"transcript": "ENST00000613865.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 132,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 555,
"cdna_start": 187,
"cds_end": null,
"cds_length": 399,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001142283.2",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135755.1",
"strand": true,
"transcript": "NM_001142283.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 132,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 554,
"cdna_start": 187,
"cds_end": null,
"cds_length": 399,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000464716.6",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494231.1",
"strand": true,
"transcript": "ENST00000464716.6",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 131,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 537,
"cdna_start": 187,
"cds_end": null,
"cds_length": 396,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001142282.2",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135754.1",
"strand": true,
"transcript": "NM_001142282.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 131,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 552,
"cdna_start": 187,
"cds_end": null,
"cds_length": 396,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001142284.2",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135756.1",
"strand": true,
"transcript": "NM_001142284.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 131,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 583,
"cdna_start": 214,
"cds_end": null,
"cds_length": 396,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000645440.1",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496738.1",
"strand": true,
"transcript": "ENST00000645440.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 130,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1415,
"cdna_start": 187,
"cds_end": null,
"cds_length": 393,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000913448.1",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583507.1",
"strand": true,
"transcript": "ENST00000913448.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 130,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 651,
"cdna_start": 304,
"cds_end": null,
"cds_length": 393,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000913449.1",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583508.1",
"strand": true,
"transcript": "ENST00000913449.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 130,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 607,
"cdna_start": 268,
"cds_end": null,
"cds_length": 393,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000913450.1",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583509.1",
"strand": true,
"transcript": "ENST00000913450.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 130,
"aa_ref": "T",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 550,
"cdna_start": 183,
"cds_end": null,
"cds_length": 393,
"cds_start": 148,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000913454.1",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Thr50Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583513.1",
"strand": true,
"transcript": "ENST00000913454.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 121,
"aa_ref": "T",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 521,
"cdna_start": 174,
"cds_end": null,
"cds_length": 366,
"cds_start": 121,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000913451.1",
"gene_hgnc_id": 10411,
"gene_symbol": "RPS24",
"hgvs_c": "c.121A>C",
"hgvs_p": "p.Thr41Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583510.1",
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