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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: 3-122528439-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=122528439&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 122528439,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_031458.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2385T>A",
"hgvs_p": "p.Asp795Glu",
"transcript": "NM_001146105.2",
"protein_id": "NP_001139577.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 819,
"cds_start": 2385,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682323.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146105.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2385T>A",
"hgvs_p": "p.Asp795Glu",
"transcript": "ENST00000682323.1",
"protein_id": "ENSP00000507390.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 819,
"cds_start": 2385,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001146105.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682323.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2490T>A",
"hgvs_p": "p.Asp830Glu",
"transcript": "ENST00000360356.6",
"protein_id": "ENSP00000353512.2",
"transcript_support_level": 1,
"aa_start": 830,
"aa_end": null,
"aa_length": 854,
"cds_start": 2490,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360356.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2385T>A",
"hgvs_p": "p.Asp795Glu",
"transcript": "ENST00000477522.6",
"protein_id": "ENSP00000419506.1",
"transcript_support_level": 1,
"aa_start": 795,
"aa_end": null,
"aa_length": 819,
"cds_start": 2385,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477522.6"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.1125T>A",
"hgvs_p": "p.Asp375Glu",
"transcript": "ENST00000492382.5",
"protein_id": "ENSP00000417664.1",
"transcript_support_level": 1,
"aa_start": 375,
"aa_end": null,
"aa_length": 399,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492382.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2499T>A",
"hgvs_p": "p.Asp833Glu",
"transcript": "ENST00000945479.1",
"protein_id": "ENSP00000615538.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 857,
"cds_start": 2499,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945479.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2490T>A",
"hgvs_p": "p.Asp830Glu",
"transcript": "NM_001146102.2",
"protein_id": "NP_001139574.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 854,
"cds_start": 2490,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146102.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2490T>A",
"hgvs_p": "p.Asp830Glu",
"transcript": "NM_001387871.1",
"protein_id": "NP_001374800.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 854,
"cds_start": 2490,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387871.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2490T>A",
"hgvs_p": "p.Asp830Glu",
"transcript": "NM_001387872.1",
"protein_id": "NP_001374801.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 854,
"cds_start": 2490,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387872.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2490T>A",
"hgvs_p": "p.Asp830Glu",
"transcript": "NM_031458.3",
"protein_id": "NP_113646.2",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 854,
"cds_start": 2490,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031458.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2490T>A",
"hgvs_p": "p.Asp830Glu",
"transcript": "ENST00000893759.1",
"protein_id": "ENSP00000563818.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 854,
"cds_start": 2490,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893759.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2490T>A",
"hgvs_p": "p.Asp830Glu",
"transcript": "ENST00000893764.1",
"protein_id": "ENSP00000563823.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 854,
"cds_start": 2490,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893764.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2490T>A",
"hgvs_p": "p.Asp830Glu",
"transcript": "ENST00000893768.1",
"protein_id": "ENSP00000563827.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 854,
"cds_start": 2490,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893768.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2490T>A",
"hgvs_p": "p.Asp830Glu",
"transcript": "ENST00000945485.1",
"protein_id": "ENSP00000615544.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 854,
"cds_start": 2490,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945485.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2481T>A",
"hgvs_p": "p.Asp827Glu",
"transcript": "ENST00000945484.1",
"protein_id": "ENSP00000615543.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 851,
"cds_start": 2481,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945484.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2433T>A",
"hgvs_p": "p.Asp811Glu",
"transcript": "ENST00000945475.1",
"protein_id": "ENSP00000615534.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 835,
"cds_start": 2433,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945475.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2424T>A",
"hgvs_p": "p.Asp808Glu",
"transcript": "NM_001387873.1",
"protein_id": "NP_001374802.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 832,
"cds_start": 2424,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387873.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2424T>A",
"hgvs_p": "p.Asp808Glu",
"transcript": "NM_001387874.1",
"protein_id": "NP_001374803.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 832,
"cds_start": 2424,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387874.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2424T>A",
"hgvs_p": "p.Asp808Glu",
"transcript": "ENST00000893763.1",
"protein_id": "ENSP00000563822.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 832,
"cds_start": 2424,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893763.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2424T>A",
"hgvs_p": "p.Asp808Glu",
"transcript": "ENST00000945473.1",
"protein_id": "ENSP00000615532.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 832,
"cds_start": 2424,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945473.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2394T>A",
"hgvs_p": "p.Asp798Glu",
"transcript": "ENST00000893755.1",
"protein_id": "ENSP00000563814.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 822,
"cds_start": 2394,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893755.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP9",
"gene_hgnc_id": 24118,
"hgvs_c": "c.2394T>A",
"hgvs_p": "p.Asp798Glu",
"transcript": "ENST00000893765.1",
"protein_id": "ENSP00000563824.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 822,
"cds_start": 2394,
"cds_end": null,
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.014,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_031458.3",
"gene_symbol": "PARP9",
"hgnc_id": 24118,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2490T>A",
"hgvs_p": "p.Asp830Glu"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_001740869.2",
"gene_symbol": "LOC105374071",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.270+648A>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}