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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: 5-150121305-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150121305&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PDGFRB",
"hgnc_id": 8804,
"hgvs_c": "c.2362C>A",
"hgvs_p": "p.Arg788Arg",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_002609.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7900000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "R",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5700,
"cdna_start": 2817,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2362,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_002609.4",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2362C>A",
"hgvs_p": "p.Arg788Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261799.9",
"protein_coding": true,
"protein_id": "NP_002600.1",
"strand": false,
"transcript": "NM_002609.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "R",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5700,
"cdna_start": 2817,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2362,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000261799.9",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2362C>A",
"hgvs_p": "p.Arg788Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002609.4",
"protein_coding": true,
"protein_id": "ENSP00000261799.4",
"strand": false,
"transcript": "ENST00000261799.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000520579.5",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "n.*1676C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000430026.1",
"strand": false,
"transcript": "ENST00000520579.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000520579.5",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "n.*1676C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000430026.1",
"strand": false,
"transcript": "ENST00000520579.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "R",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5961,
"cdna_start": 2976,
"cds_end": null,
"cds_length": 3423,
"cds_start": 2362,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000890716.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2362C>A",
"hgvs_p": "p.Arg788Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560775.1",
"strand": false,
"transcript": "ENST00000890716.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "R",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5766,
"cdna_start": 2891,
"cds_end": null,
"cds_length": 3402,
"cds_start": 2443,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000890721.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2443C>A",
"hgvs_p": "p.Arg815Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560780.1",
"strand": false,
"transcript": "ENST00000890721.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "R",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5661,
"cdna_start": 2781,
"cds_end": null,
"cds_length": 3378,
"cds_start": 2419,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000890727.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2419C>A",
"hgvs_p": "p.Arg807Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560786.1",
"strand": false,
"transcript": "ENST00000890727.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "R",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5496,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2362,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000890715.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2362C>A",
"hgvs_p": "p.Arg788Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560774.1",
"strand": false,
"transcript": "ENST00000890715.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "R",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5850,
"cdna_start": 2969,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2362,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000890717.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2362C>A",
"hgvs_p": "p.Arg788Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560776.1",
"strand": false,
"transcript": "ENST00000890717.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "R",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5872,
"cdna_start": 2991,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2362,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000890718.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2362C>A",
"hgvs_p": "p.Arg788Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560777.1",
"strand": false,
"transcript": "ENST00000890718.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "R",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5394,
"cdna_start": 2517,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2362,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000890723.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2362C>A",
"hgvs_p": "p.Arg788Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560782.1",
"strand": false,
"transcript": "ENST00000890723.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "R",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5381,
"cdna_start": 2500,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2362,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000890724.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2362C>A",
"hgvs_p": "p.Arg788Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560783.1",
"strand": false,
"transcript": "ENST00000890724.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "R",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5383,
"cdna_start": 2500,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2362,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000890725.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2362C>A",
"hgvs_p": "p.Arg788Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560784.1",
"strand": false,
"transcript": "ENST00000890725.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "R",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5619,
"cdna_start": 2736,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2362,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000890726.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2362C>A",
"hgvs_p": "p.Arg788Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560785.1",
"strand": false,
"transcript": "ENST00000890726.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "R",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5303,
"cdna_start": 2420,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2362,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000951660.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2362C>A",
"hgvs_p": "p.Arg788Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621719.1",
"strand": false,
"transcript": "ENST00000951660.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "R",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5527,
"cdna_start": 2651,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2362,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000951664.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2362C>A",
"hgvs_p": "p.Arg788Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621723.1",
"strand": false,
"transcript": "ENST00000951664.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "R",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5688,
"cdna_start": 2807,
"cds_end": null,
"cds_length": 3318,
"cds_start": 2359,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000890720.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2359C>A",
"hgvs_p": "p.Arg787Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560779.1",
"strand": false,
"transcript": "ENST00000890720.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "R",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5668,
"cdna_start": 2794,
"cds_end": null,
"cds_length": 3318,
"cds_start": 2359,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000951663.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2359C>A",
"hgvs_p": "p.Arg787Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621722.1",
"strand": false,
"transcript": "ENST00000951663.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1100,
"aa_ref": "R",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5641,
"cdna_start": 2779,
"cds_end": null,
"cds_length": 3303,
"cds_start": 2362,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000951661.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2362C>A",
"hgvs_p": "p.Arg788Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621720.1",
"strand": false,
"transcript": "ENST00000951661.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1076,
"aa_ref": "R",
"aa_start": 758,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5466,
"cdna_start": 2585,
"cds_end": null,
"cds_length": 3231,
"cds_start": 2272,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000951662.1",
"gene_hgnc_id": 8804,
"gene_symbol": "PDGFRB",
"hgvs_c": "c.2272C>A",
"hgvs_p": "p.Arg758Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621721.1",
"strand": false,
"transcript": "ENST00000951662.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "R",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5535,
"cdna_start": 2658,
"cds_end": null,
"cds_length": 3162,
"cds_start": 2203,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000890719.1",
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