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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: 6-136261359-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=136261359&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 136261359,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000531224.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2663C>G",
"hgvs_p": "p.Thr888Ser",
"transcript": "NM_014739.3",
"protein_id": "NP_055554.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 920,
"cds_start": 2663,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 7494,
"mane_select": "ENST00000531224.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2663C>G",
"hgvs_p": "p.Thr888Ser",
"transcript": "ENST00000531224.6",
"protein_id": "ENSP00000435210.1",
"transcript_support_level": 1,
"aa_start": 888,
"aa_end": null,
"aa_length": 920,
"cds_start": 2663,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 7494,
"mane_select": "NM_014739.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2657C>G",
"hgvs_p": "p.Thr886Ser",
"transcript": "ENST00000527759.5",
"protein_id": "ENSP00000434826.1",
"transcript_support_level": 1,
"aa_start": 886,
"aa_end": null,
"aa_length": 918,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2854,
"cdna_end": null,
"cdna_length": 4373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2144C>G",
"hgvs_p": "p.Thr715Ser",
"transcript": "ENST00000530767.5",
"protein_id": "ENSP00000436501.1",
"transcript_support_level": 1,
"aa_start": 715,
"aa_end": null,
"aa_length": 747,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 4186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "n.*567C>G",
"hgvs_p": null,
"transcript": "ENST00000527613.5",
"protein_id": "ENSP00000436216.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "n.1130C>G",
"hgvs_p": null,
"transcript": "ENST00000529917.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "n.*1124C>G",
"hgvs_p": null,
"transcript": "ENST00000534269.5",
"protein_id": "ENSP00000433822.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "n.*567C>G",
"hgvs_p": null,
"transcript": "ENST00000527613.5",
"protein_id": "ENSP00000436216.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "n.*1124C>G",
"hgvs_p": null,
"transcript": "ENST00000534269.5",
"protein_id": "ENSP00000433822.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2663C>G",
"hgvs_p": "p.Thr888Ser",
"transcript": "NM_001386700.1",
"protein_id": "NP_001373629.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 920,
"cds_start": 2663,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 3056,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2663C>G",
"hgvs_p": "p.Thr888Ser",
"transcript": "NM_001386701.1",
"protein_id": "NP_001373630.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 920,
"cds_start": 2663,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2931,
"cdna_end": null,
"cdna_length": 5847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2660C>G",
"hgvs_p": "p.Thr887Ser",
"transcript": "NM_001386693.1",
"protein_id": "NP_001373622.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 919,
"cds_start": 2660,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2908,
"cdna_end": null,
"cdna_length": 5824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2657C>G",
"hgvs_p": "p.Thr886Ser",
"transcript": "NM_001301038.3",
"protein_id": "NP_001287967.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 918,
"cds_start": 2657,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2905,
"cdna_end": null,
"cdna_length": 5821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2516C>G",
"hgvs_p": "p.Thr839Ser",
"transcript": "NM_001363659.3",
"protein_id": "NP_001350588.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 871,
"cds_start": 2516,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2764,
"cdna_end": null,
"cdna_length": 5680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2516C>G",
"hgvs_p": "p.Thr839Ser",
"transcript": "ENST00000527536.5",
"protein_id": "ENSP00000435441.1",
"transcript_support_level": 5,
"aa_start": 839,
"aa_end": null,
"aa_length": 871,
"cds_start": 2516,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2747,
"cdna_end": null,
"cdna_length": 5371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2513C>G",
"hgvs_p": "p.Thr838Ser",
"transcript": "NM_001386694.1",
"protein_id": "NP_001373623.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 870,
"cds_start": 2513,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2761,
"cdna_end": null,
"cdna_length": 5677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2510C>G",
"hgvs_p": "p.Thr837Ser",
"transcript": "NM_001077440.3",
"protein_id": "NP_001070908.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 869,
"cds_start": 2510,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 2758,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2510C>G",
"hgvs_p": "p.Thr837Ser",
"transcript": "ENST00000353331.8",
"protein_id": "ENSP00000229446.5",
"transcript_support_level": 5,
"aa_start": 837,
"aa_end": null,
"aa_length": 869,
"cds_start": 2510,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 2763,
"cdna_end": null,
"cdna_length": 7110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2510C>G",
"hgvs_p": "p.Thr837Ser",
"transcript": "ENST00000392348.6",
"protein_id": "ENSP00000376159.2",
"transcript_support_level": 5,
"aa_start": 837,
"aa_end": null,
"aa_length": 869,
"cds_start": 2510,
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"cdna_start": 2510,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2144C>G",
"hgvs_p": "p.Thr715Ser",
"transcript": "NM_001077441.3",
"protein_id": "NP_001070909.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 747,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2392,
"cdna_end": null,
"cdna_length": 5308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2144C>G",
"hgvs_p": "p.Thr715Ser",
"transcript": "NM_001386702.1",
"protein_id": "NP_001373631.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 747,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2412,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCLAF1",
"gene_hgnc_id": 16863,
"hgvs_c": "c.2141C>G",
"hgvs_p": "p.Thr714Ser",
"transcript": "NM_001386695.1",
"protein_id": "NP_001373624.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 746,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2389,
"cdna_end": null,
"cdna_length": 5305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000531224.6",
"gene_symbol": "BCLAF1",
"hgnc_id": 16863,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2663C>G",
"hgvs_p": "p.Thr888Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}