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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: 7-33534018-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=33534018&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BBS9",
"hgnc_id": 30000,
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Ser788Phe",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001348041.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_score": -5,
"allele_count_reference_population": 1226,
"alphamissense_prediction": null,
"alphamissense_score": 0.246,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"chr": "7",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Bardet-Biedl syndrome,Bardet-Biedl syndrome 9,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.010642826557159424,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 887,
"aa_ref": "S",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": 2852,
"cds_end": null,
"cds_length": 2664,
"cds_start": 2363,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_198428.3",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Ser788Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000242067.11",
"protein_coding": true,
"protein_id": "NP_940820.1",
"strand": true,
"transcript": "NM_198428.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 887,
"aa_ref": "S",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": 2852,
"cds_end": null,
"cds_length": 2664,
"cds_start": 2363,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000242067.11",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Ser788Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198428.3",
"protein_coding": true,
"protein_id": "ENSP00000242067.6",
"strand": true,
"transcript": "ENST00000242067.11",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 453,
"aa_ref": "S",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1061,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000434373.3",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ser354Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388114.1",
"strand": true,
"transcript": "ENST00000434373.3",
"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": 3705,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000433714.5",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "n.*1124C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000412159.1",
"strand": true,
"transcript": "ENST00000433714.5",
"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": 3705,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000433714.5",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "n.*1124C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000412159.1",
"strand": true,
"transcript": "ENST00000433714.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 929,
"aa_ref": "S",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 2528,
"cds_end": null,
"cds_length": 2790,
"cds_start": 2489,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000942912.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2489C>T",
"hgvs_p": "p.Ser830Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612971.1",
"strand": true,
"transcript": "ENST00000942912.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 928,
"aa_ref": "S",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3822,
"cdna_start": 2989,
"cds_end": null,
"cds_length": 2787,
"cds_start": 2486,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000671871.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2486C>T",
"hgvs_p": "p.Ser829Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499908.1",
"strand": true,
"transcript": "ENST00000671871.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 923,
"aa_ref": "S",
"aa_start": 824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3213,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2471,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000942913.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2471C>T",
"hgvs_p": "p.Ser824Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612972.1",
"strand": true,
"transcript": "ENST00000942913.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 908,
"aa_ref": "S",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3712,
"cdna_start": 2852,
"cds_end": null,
"cds_length": 2727,
"cds_start": 2363,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001348041.4",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Ser788Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334970.1",
"strand": true,
"transcript": "NM_001348041.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 908,
"aa_ref": "S",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3456,
"cdna_start": 2596,
"cds_end": null,
"cds_length": 2727,
"cds_start": 2363,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000673056.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Ser788Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499989.1",
"strand": true,
"transcript": "ENST00000673056.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 887,
"aa_ref": "S",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3785,
"cdna_start": 2642,
"cds_end": null,
"cds_length": 2664,
"cds_start": 2363,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001348036.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Ser788Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334965.1",
"strand": true,
"transcript": "NM_001348036.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 886,
"aa_ref": "S",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3993,
"cdna_start": 2852,
"cds_end": null,
"cds_length": 2661,
"cds_start": 2363,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001348043.3",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Ser788Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334972.1",
"strand": true,
"transcript": "NM_001348043.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 886,
"aa_ref": "S",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3976,
"cdna_start": 3120,
"cds_end": null,
"cds_length": 2661,
"cds_start": 2363,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000942907.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Ser788Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612966.1",
"strand": true,
"transcript": "ENST00000942907.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 882,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 2837,
"cds_end": null,
"cds_length": 2649,
"cds_start": 2348,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001033605.2",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2348C>T",
"hgvs_p": "p.Ser783Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001028777.1",
"strand": true,
"transcript": "NM_001033605.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 882,
"aa_ref": "S",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4004,
"cdna_start": 2861,
"cds_end": null,
"cds_length": 2649,
"cds_start": 2348,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000355070.6",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2348C>T",
"hgvs_p": "p.Ser783Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347182.2",
"strand": true,
"transcript": "ENST00000355070.6",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 871,
"aa_ref": "S",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3625,
"cdna_start": 2876,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2363,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001362679.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Ser788Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349608.1",
"strand": true,
"transcript": "NM_001362679.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 871,
"aa_ref": "S",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": 2594,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2363,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000671952.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2363C>T",
"hgvs_p": "p.Ser788Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500239.1",
"strand": true,
"transcript": "ENST00000671952.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 866,
"aa_ref": "S",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3496,
"cdna_start": 2789,
"cds_end": null,
"cds_length": 2601,
"cds_start": 2300,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000942908.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2300C>T",
"hgvs_p": "p.Ser767Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612967.1",
"strand": true,
"transcript": "ENST00000942908.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 855,
"aa_ref": "S",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 2306,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2267,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000942911.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2267C>T",
"hgvs_p": "p.Ser756Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612970.1",
"strand": true,
"transcript": "ENST00000942911.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 854,
"aa_ref": "S",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3243,
"cdna_start": 2544,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2264,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000942910.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.2264C>T",
"hgvs_p": "p.Ser755Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612969.1",
"strand": true,
"transcript": "ENST00000942910.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 852,
"aa_ref": "S",
"aa_start": 753,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3891,
"cdna_start": 2747,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2258,
"consequences": [
"missense_variant"
],
"exon_count": 22,
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