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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: 18-9950423-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=9950423&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "VAPA",
"hgnc_id": 12648,
"hgvs_c": "c.581C>A",
"hgvs_p": "p.Pro194Gln",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_003574.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.1114,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25951963663101196,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 249,
"aa_ref": "P",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6801,
"cdna_start": 687,
"cds_end": null,
"cds_length": 750,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_194434.3",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.446C>A",
"hgvs_p": "p.Pro149Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000400000.7",
"protein_coding": true,
"protein_id": "NP_919415.2",
"strand": true,
"transcript": "NM_194434.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 249,
"aa_ref": "P",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6801,
"cdna_start": 687,
"cds_end": null,
"cds_length": 750,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000400000.7",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.446C>A",
"hgvs_p": "p.Pro149Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_194434.3",
"protein_coding": true,
"protein_id": "ENSP00000382880.3",
"strand": true,
"transcript": "ENST00000400000.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 316,
"aa_ref": "P",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 654,
"cds_end": null,
"cds_length": 951,
"cds_start": 647,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000971051.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.647C>A",
"hgvs_p": "p.Pro216Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641110.1",
"strand": true,
"transcript": "ENST00000971051.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 294,
"aa_ref": "P",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6936,
"cdna_start": 822,
"cds_end": null,
"cds_length": 885,
"cds_start": 581,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_003574.6",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.581C>A",
"hgvs_p": "p.Pro194Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003565.4",
"strand": true,
"transcript": "NM_003574.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 294,
"aa_ref": "P",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1227,
"cdna_start": 776,
"cds_end": null,
"cds_length": 885,
"cds_start": 581,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000340541.4",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.581C>A",
"hgvs_p": "p.Pro194Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345656.4",
"strand": true,
"transcript": "ENST00000340541.4",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 267,
"aa_ref": "P",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": 718,
"cds_end": null,
"cds_length": 804,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000928107.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Pro167Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598166.1",
"strand": true,
"transcript": "ENST00000928107.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 252,
"aa_ref": "P",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1577,
"cdna_start": 650,
"cds_end": null,
"cds_length": 759,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971050.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.446C>A",
"hgvs_p": "p.Pro149Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641109.1",
"strand": true,
"transcript": "ENST00000971050.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "P",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": 667,
"cds_end": null,
"cds_length": 753,
"cds_start": 449,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897660.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.449C>A",
"hgvs_p": "p.Pro150Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567719.1",
"strand": true,
"transcript": "ENST00000897660.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 248,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": 677,
"cds_end": null,
"cds_length": 747,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000928106.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Pro148Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598165.1",
"strand": true,
"transcript": "ENST00000928106.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 248,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3612,
"cdna_start": 784,
"cds_end": null,
"cds_length": 747,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971047.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.443C>A",
"hgvs_p": "p.Pro148Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641106.1",
"strand": true,
"transcript": "ENST00000971047.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 248,
"aa_ref": "P",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 673,
"cds_end": null,
"cds_length": 747,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971048.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.446C>A",
"hgvs_p": "p.Pro149Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641107.1",
"strand": true,
"transcript": "ENST00000971048.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 246,
"aa_ref": "P",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 691,
"cds_end": null,
"cds_length": 741,
"cds_start": 437,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971049.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.437C>A",
"hgvs_p": "p.Pro146Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641108.1",
"strand": true,
"transcript": "ENST00000971049.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 243,
"aa_ref": "P",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 464,
"cds_end": null,
"cds_length": 732,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897662.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Pro143Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567721.1",
"strand": true,
"transcript": "ENST00000897662.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 222,
"aa_ref": "P",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1487,
"cdna_start": 606,
"cds_end": null,
"cds_length": 669,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897661.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Pro122Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567720.1",
"strand": true,
"transcript": "ENST00000897661.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 198,
"aa_ref": "P",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": 572,
"cds_end": null,
"cds_length": 597,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897659.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.293C>A",
"hgvs_p": "p.Pro98Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567718.1",
"strand": true,
"transcript": "ENST00000897659.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6940,
"cdna_start": 826,
"cds_end": null,
"cds_length": 846,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047437928.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.542C>A",
"hgvs_p": "p.Pro181Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293884.1",
"strand": true,
"transcript": "XM_047437928.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9337,
"cdna_start": 3223,
"cds_end": null,
"cds_length": 846,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047437929.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.542C>A",
"hgvs_p": "p.Pro181Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293885.1",
"strand": true,
"transcript": "XM_047437929.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7237,
"cdna_start": 1123,
"cds_end": null,
"cds_length": 846,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047437930.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.542C>A",
"hgvs_p": "p.Pro181Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293886.1",
"strand": true,
"transcript": "XM_047437930.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 281,
"aa_ref": "P",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6863,
"cdna_start": 749,
"cds_end": null,
"cds_length": 846,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047437931.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.542C>A",
"hgvs_p": "p.Pro181Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293887.1",
"strand": true,
"transcript": "XM_047437931.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 236,
"aa_ref": "P",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7102,
"cdna_start": 988,
"cds_end": null,
"cds_length": 711,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017026079.2",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Pro136Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881568.1",
"strand": true,
"transcript": "XM_017026079.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 236,
"aa_ref": "P",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7205,
"cdna_start": 1091,
"cds_end": null,
"cds_length": 711,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047437932.1",
"gene_hgnc_id": 12648,
"gene_symbol": "VAPA",
"hgvs_c": "c.407C>A",
"hgvs_p": "p.Pro136Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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