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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: 9-36211722-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=36211722&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLTA",
"hgnc_id": 2090,
"hgvs_c": "c.695C>G",
"hgvs_p": "p.Ser232Cys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_007096.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124902151",
"hgnc_id": null,
"hgvs_c": "n.726+1564G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "XR_007061474.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9693,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.2,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7049692273139954,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 218,
"aa_ref": "S",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1078,
"cdna_start": 741,
"cds_end": null,
"cds_length": 657,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001833.4",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ser202Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000345519.10",
"protein_coding": true,
"protein_id": "NP_001824.1",
"strand": true,
"transcript": "NM_001833.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 218,
"aa_ref": "S",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1078,
"cdna_start": 741,
"cds_end": null,
"cds_length": 657,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000345519.10",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ser202Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001833.4",
"protein_coding": true,
"protein_id": "ENSP00000242284.6",
"strand": true,
"transcript": "ENST00000345519.10",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 248,
"aa_ref": "S",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1168,
"cdna_start": 831,
"cds_end": null,
"cds_length": 747,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000242285.11",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.695C>G",
"hgvs_p": "p.Ser232Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000242285.6",
"strand": true,
"transcript": "ENST00000242285.11",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 236,
"aa_ref": "S",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1090,
"cdna_start": 753,
"cds_end": null,
"cds_length": 711,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000396603.6",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.659C>G",
"hgvs_p": "p.Ser220Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379848.2",
"strand": true,
"transcript": "ENST00000396603.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 248,
"aa_ref": "S",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1168,
"cdna_start": 831,
"cds_end": null,
"cds_length": 747,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_007096.4",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.695C>G",
"hgvs_p": "p.Ser232Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_009027.1",
"strand": true,
"transcript": "NM_007096.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 236,
"aa_ref": "S",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1132,
"cdna_start": 795,
"cds_end": null,
"cds_length": 711,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001076677.3",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.659C>G",
"hgvs_p": "p.Ser220Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001070145.1",
"strand": true,
"transcript": "NM_001076677.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 230,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1114,
"cdna_start": 777,
"cds_end": null,
"cds_length": 693,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001184760.2",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.641C>G",
"hgvs_p": "p.Ser214Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171689.1",
"strand": true,
"transcript": "NM_001184760.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 230,
"aa_ref": "S",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1102,
"cdna_start": 766,
"cds_end": null,
"cds_length": 693,
"cds_start": 641,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000470744.5",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.641C>G",
"hgvs_p": "p.Ser214Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419746.1",
"strand": true,
"transcript": "ENST00000470744.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 218,
"aa_ref": "S",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 984,
"cdna_start": 645,
"cds_end": null,
"cds_length": 657,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000869064.1",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ser202Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539123.1",
"strand": true,
"transcript": "ENST00000869064.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 216,
"aa_ref": "S",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1070,
"cdna_start": 733,
"cds_end": null,
"cds_length": 651,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000938561.1",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.599C>G",
"hgvs_p": "p.Ser200Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608620.1",
"strand": true,
"transcript": "ENST00000938561.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 202,
"aa_ref": "S",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 993,
"cdna_start": 658,
"cds_end": null,
"cds_length": 609,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000869066.1",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.557C>G",
"hgvs_p": "p.Ser186Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539125.1",
"strand": true,
"transcript": "ENST00000869066.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 196,
"aa_ref": "S",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1012,
"cdna_start": 675,
"cds_end": null,
"cds_length": 591,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001311204.2",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.539C>G",
"hgvs_p": "p.Ser180Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001298133.1",
"strand": true,
"transcript": "NM_001311204.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 196,
"aa_ref": "S",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1012,
"cdna_start": 675,
"cds_end": null,
"cds_length": 591,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000466396.6",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.539C>G",
"hgvs_p": "p.Ser180Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417698.1",
"strand": true,
"transcript": "ENST00000466396.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 184,
"aa_ref": "S",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 974,
"cdna_start": 637,
"cds_end": null,
"cds_length": 555,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000869065.1",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.503C>G",
"hgvs_p": "p.Ser168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539124.1",
"strand": true,
"transcript": "ENST00000869065.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 178,
"aa_ref": "S",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 958,
"cdna_start": 621,
"cds_end": null,
"cds_length": 537,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001311205.2",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.485C>G",
"hgvs_p": "p.Ser162Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001298134.1",
"strand": true,
"transcript": "NM_001311205.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 178,
"aa_ref": "S",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 966,
"cdna_start": 630,
"cds_end": null,
"cds_length": 537,
"cds_start": 485,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950945.1",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.485C>G",
"hgvs_p": "p.Ser162Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621004.1",
"strand": true,
"transcript": "ENST00000950945.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 166,
"aa_ref": "S",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 922,
"cdna_start": 585,
"cds_end": null,
"cds_length": 501,
"cds_start": 449,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001184762.2",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.449C>G",
"hgvs_p": "p.Ser150Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171691.1",
"strand": true,
"transcript": "NM_001184762.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 166,
"aa_ref": "S",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 989,
"cdna_start": 650,
"cds_end": null,
"cds_length": 501,
"cds_start": 449,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000540080.5",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.449C>G",
"hgvs_p": "p.Ser150Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437508.1",
"strand": true,
"transcript": "ENST00000540080.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 140,
"aa_ref": "S",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 805,
"cdna_start": 468,
"cds_end": null,
"cds_length": 423,
"cds_start": 371,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001311203.2",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.371C>G",
"hgvs_p": "p.Ser124Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001298132.1",
"strand": true,
"transcript": "NM_001311203.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 101,
"aa_ref": "S",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1040,
"cdna_start": 703,
"cds_end": null,
"cds_length": 306,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001311206.2",
"gene_hgnc_id": 2090,
"gene_symbol": "CLTA",
"hgvs_c": "c.254C>G",
"hgvs_p": "p.Ser85Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001298135.1",
"strand": true,
"transcript": "NM_001311206.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 170,
"aa_ref": "S",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 853,
"cdna_start": 516,
"cds_end": null,
"cds_length": 513,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
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"feature": "XM_017014257.2",
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