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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: 11-7565639-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=7565639&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPFIBP2",
"hgnc_id": 9250,
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001351853.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0823,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.27554190158843994,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 876,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 310,
"cds_end": null,
"cds_length": 2631,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_003621.5",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000299492.9",
"protein_coding": true,
"protein_id": "NP_003612.3",
"strand": true,
"transcript": "NM_003621.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 876,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 310,
"cds_end": null,
"cds_length": 2631,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000299492.9",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003621.5",
"protein_coding": true,
"protein_id": "ENSP00000299492.4",
"strand": true,
"transcript": "ENST00000299492.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 928,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": 310,
"cds_end": null,
"cds_length": 2787,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001351853.2",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338782.2",
"strand": true,
"transcript": "NM_001351853.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 927,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 361,
"cds_end": null,
"cds_length": 2784,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000684123.1",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507842.1",
"strand": true,
"transcript": "ENST00000684123.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 917,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3027,
"cdna_start": 310,
"cds_end": null,
"cds_length": 2754,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001351854.2",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338783.2",
"strand": true,
"transcript": "NM_001351854.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 887,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3361,
"cdna_start": 310,
"cds_end": null,
"cds_length": 2664,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001351855.2",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338784.2",
"strand": true,
"transcript": "NM_001351855.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 878,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3334,
"cdna_start": 310,
"cds_end": null,
"cds_length": 2637,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001351856.2",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338785.2",
"strand": true,
"transcript": "NM_001351856.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 876,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3484,
"cdna_start": 466,
"cds_end": null,
"cds_length": 2631,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001351862.2",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338791.2",
"strand": true,
"transcript": "NM_001351862.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 876,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3311,
"cdna_start": 291,
"cds_end": null,
"cds_length": 2631,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000857461.1",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527520.1",
"strand": true,
"transcript": "ENST00000857461.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 876,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3650,
"cdna_start": 631,
"cds_end": null,
"cds_length": 2631,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857462.1",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527521.1",
"strand": true,
"transcript": "ENST00000857462.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 875,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": 335,
"cds_end": null,
"cds_length": 2628,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000857460.1",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527519.1",
"strand": true,
"transcript": "ENST00000857460.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 862,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3296,
"cdna_start": 318,
"cds_end": null,
"cds_length": 2589,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933098.1",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603157.1",
"strand": true,
"transcript": "ENST00000933098.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 169,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 625,
"cdna_start": 264,
"cds_end": null,
"cds_length": 512,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000527790.5",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434981.1",
"strand": true,
"transcript": "ENST00000527790.5",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 134,
"aa_ref": "L",
"aa_start": 5,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 407,
"cdna_start": 15,
"cds_end": null,
"cds_length": 405,
"cds_start": 13,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000524548.5",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.13C>A",
"hgvs_p": "p.Leu5Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433917.1",
"strand": true,
"transcript": "ENST00000524548.5",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 88,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 484,
"cdna_start": 367,
"cds_end": null,
"cds_length": 268,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000526873.5",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434641.1",
"strand": true,
"transcript": "ENST00000526873.5",
"transcript_support_level": 4
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 88,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 814,
"cdna_start": 697,
"cds_end": null,
"cds_length": 268,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000528947.5",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431724.1",
"strand": true,
"transcript": "ENST00000528947.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 69,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 534,
"cdna_start": 475,
"cds_end": null,
"cds_length": 210,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000526046.1",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433026.1",
"strand": true,
"transcript": "ENST00000526046.1",
"transcript_support_level": 4
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 927,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4286,
"cdna_start": 310,
"cds_end": null,
"cds_length": 2784,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006718349.4",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006718412.1",
"strand": true,
"transcript": "XM_006718349.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 927,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": 466,
"cds_end": null,
"cds_length": 2784,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011520413.3",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518715.1",
"strand": true,
"transcript": "XM_011520413.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 927,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4248,
"cdna_start": 272,
"cds_end": null,
"cds_length": 2784,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011520414.3",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518716.1",
"strand": true,
"transcript": "XM_011520414.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 916,
"aa_ref": "L",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4253,
"cdna_start": 310,
"cds_end": null,
"cds_length": 2751,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005253177.4",
"gene_hgnc_id": 9250,
"gene_symbol": "PPFIBP2",
"hgvs_c": "c.151C>A",
"hgvs_p": "p.Leu51Ile",
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