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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: 7-33344627-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=33344627&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "BBS9",
"hgnc_id": 30000,
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001348041.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 76,
"alphamissense_prediction": null,
"alphamissense_score": 0.1292,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "BBS9-related disorder,Bardet-Biedl syndrome,Bardet-Biedl syndrome 9,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.43688058853149414,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 887,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_198428.3",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"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": "M",
"aa_end": null,
"aa_length": 887,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000242067.11",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"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": "M",
"aa_end": null,
"aa_length": 453,
"aa_ref": "T",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 21,
"cds_end": null,
"cds_length": 1362,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000434373.3",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.20C>T",
"hgvs_p": "p.Thr7Met",
"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": 12,
"exon_rank_end": null,
"feature": "ENST00000433714.5",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "n.1322C>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": "M",
"aa_end": null,
"aa_length": 929,
"aa_ref": "T",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 1487,
"cds_end": null,
"cds_length": 2790,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000942912.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1448C>T",
"hgvs_p": "p.Thr483Met",
"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": "M",
"aa_end": null,
"aa_length": 928,
"aa_ref": "T",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3822,
"cdna_start": 1948,
"cds_end": null,
"cds_length": 2787,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000671871.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1445C>T",
"hgvs_p": "p.Thr482Met",
"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": "M",
"aa_end": null,
"aa_length": 923,
"aa_ref": "T",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3213,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 2772,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000942913.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1445C>T",
"hgvs_p": "p.Thr482Met",
"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": "M",
"aa_end": null,
"aa_length": 908,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3712,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 2727,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001348041.4",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"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": "M",
"aa_end": null,
"aa_length": 908,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3456,
"cdna_start": 1555,
"cds_end": null,
"cds_length": 2727,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000673056.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"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": "M",
"aa_end": null,
"aa_length": 887,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3785,
"cdna_start": 1601,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001348036.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"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": "M",
"aa_end": null,
"aa_length": 886,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3993,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 2661,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001348043.3",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"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": "M",
"aa_end": null,
"aa_length": 886,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3976,
"cdna_start": 2079,
"cds_end": null,
"cds_length": 2661,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000942907.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"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": "M",
"aa_end": null,
"aa_length": 882,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 2649,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001033605.2",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"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": "M",
"aa_end": null,
"aa_length": 882,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4004,
"cdna_start": 1835,
"cds_end": null,
"cds_length": 2649,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000355070.6",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"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": "M",
"aa_end": null,
"aa_length": 871,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3625,
"cdna_start": 1835,
"cds_end": null,
"cds_length": 2616,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001362679.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"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": "M",
"aa_end": null,
"aa_length": 871,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": 1553,
"cds_end": null,
"cds_length": 2616,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000671952.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"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": "M",
"aa_end": null,
"aa_length": 866,
"aa_ref": "T",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3496,
"cdna_start": 1748,
"cds_end": null,
"cds_length": 2601,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000942908.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Thr420Met",
"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": "M",
"aa_end": null,
"aa_length": 855,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 2568,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000942911.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"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": "M",
"aa_end": null,
"aa_length": 854,
"aa_ref": "T",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3243,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 2565,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000942910.1",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1319C>T",
"hgvs_p": "p.Thr440Met",
"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": "M",
"aa_end": null,
"aa_length": 852,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3891,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 2559,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001033604.2",
"gene_hgnc_id": 30000,
"gene_symbol": "BBS9",
"hgvs_c": "c.1322C>T",
"hgvs_p": "p.Thr441Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001028776.1",
"strand": true,
"transcript": "NM_001033604.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 852,
"aa_ref": "T",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3914,
"cdna_start": 1835,
"cds_end": null,
"cds_length": 2559,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000396127.6",
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]
}