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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: 18-74510895-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=74510895&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CNDP2",
"hgnc_id": 24437,
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_018235.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 6034,
"alphamissense_prediction": null,
"alphamissense_score": 0.0706,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0020300447940826416,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4975,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1428,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_018235.3",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324262.9",
"protein_coding": true,
"protein_id": "NP_060705.2",
"strand": true,
"transcript": "NM_018235.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4975,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1428,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000324262.9",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018235.3",
"protein_coding": true,
"protein_id": "ENSP00000325548.4",
"strand": true,
"transcript": "ENST00000324262.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 391,
"aa_ref": "R",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 400,
"cds_end": null,
"cds_length": 1176,
"cds_start": 287,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000324301.12",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.287G>A",
"hgvs_p": "p.Arg96Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000325756.8",
"strand": true,
"transcript": "ENST00000324301.12",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 514,
"aa_ref": "R",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 842,
"cds_end": null,
"cds_length": 1545,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000880651.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550710.1",
"strand": true,
"transcript": "ENST00000880651.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 486,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1461,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000969808.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639867.1",
"strand": true,
"transcript": "ENST00000969808.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 485,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2615,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1458,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000880665.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550724.1",
"strand": true,
"transcript": "ENST00000880665.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 713,
"cds_end": null,
"cds_length": 1455,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000880668.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550727.1",
"strand": true,
"transcript": "ENST00000880668.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2671,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1455,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000921561.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591620.1",
"strand": true,
"transcript": "ENST00000921561.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2760,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1455,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969810.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639869.1",
"strand": true,
"transcript": "ENST00000969810.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2720,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1443,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000880643.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550702.1",
"strand": true,
"transcript": "ENST00000880643.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 480,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2607,
"cdna_start": 650,
"cds_end": null,
"cds_length": 1443,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000880659.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550718.1",
"strand": true,
"transcript": "ENST00000880659.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4920,
"cdna_start": 645,
"cds_end": null,
"cds_length": 1428,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001370248.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357177.1",
"strand": true,
"transcript": "NM_001370248.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5242,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1428,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001370249.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357178.1",
"strand": true,
"transcript": "NM_001370249.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4988,
"cdna_start": 713,
"cds_end": null,
"cds_length": 1428,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001370250.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357179.1",
"strand": true,
"transcript": "NM_001370250.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1428,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000579847.5",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462311.1",
"strand": true,
"transcript": "ENST00000579847.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5066,
"cdna_start": 688,
"cds_end": null,
"cds_length": 1428,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000880639.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550698.1",
"strand": true,
"transcript": "ENST00000880639.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": 1091,
"cds_end": null,
"cds_length": 1428,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880640.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550699.1",
"strand": true,
"transcript": "ENST00000880640.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1428,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000880641.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550700.1",
"strand": true,
"transcript": "ENST00000880641.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3157,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1428,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880644.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550703.1",
"strand": true,
"transcript": "ENST00000880644.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2966,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 1428,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000880645.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550704.1",
"strand": true,
"transcript": "ENST00000880645.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2988,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1428,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000880646.1",
"gene_hgnc_id": 24437,
"gene_symbol": "CNDP2",
"hgvs_c": "c.539G>A",
"hgvs_p": "p.Arg180Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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