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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: 3-129288890-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=129288890&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HMCES",
"hgnc_id": 24446,
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_020187.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 18,
"alphamissense_prediction": null,
"alphamissense_score": 0.1339,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.42,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9121687412261963,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 279,
"cds_end": null,
"cds_length": 1065,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_020187.3",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000383463.9",
"protein_coding": true,
"protein_id": "NP_064572.2",
"strand": true,
"transcript": "NM_020187.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 279,
"cds_end": null,
"cds_length": 1065,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000383463.9",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020187.3",
"protein_coding": true,
"protein_id": "ENSP00000372955.3",
"strand": true,
"transcript": "ENST00000383463.9",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1763,
"cdna_start": 481,
"cds_end": null,
"cds_length": 1065,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000389735.7",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000374385.3",
"strand": true,
"transcript": "ENST00000389735.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 491,
"cds_end": null,
"cds_length": 1065,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000502878.6",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426215.1",
"strand": true,
"transcript": "ENST00000502878.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 312,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1490,
"cdna_start": 303,
"cds_end": null,
"cds_length": 939,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000417226.6",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392966.2",
"strand": true,
"transcript": "ENST00000417226.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 360,
"aa_ref": "R",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2548,
"cdna_start": 342,
"cds_end": null,
"cds_length": 1083,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000857376.1",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527435.1",
"strand": true,
"transcript": "ENST00000857376.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 360,
"aa_ref": "R",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 497,
"cds_end": null,
"cds_length": 1083,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000857380.1",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527439.1",
"strand": true,
"transcript": "ENST00000857380.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 360,
"aa_ref": "R",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1599,
"cdna_start": 293,
"cds_end": null,
"cds_length": 1083,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000949829.1",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619888.1",
"strand": true,
"transcript": "ENST00000949829.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1794,
"cdna_start": 481,
"cds_end": null,
"cds_length": 1065,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001006109.1",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001006109.1",
"strand": true,
"transcript": "NM_001006109.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 453,
"cds_end": null,
"cds_length": 1065,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001370343.1",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357272.1",
"strand": true,
"transcript": "NM_001370343.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2499,
"cdna_start": 293,
"cds_end": null,
"cds_length": 1065,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001370344.1",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357273.1",
"strand": true,
"transcript": "NM_001370344.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2505,
"cdna_start": 296,
"cds_end": null,
"cds_length": 1065,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000857375.1",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527434.1",
"strand": true,
"transcript": "ENST00000857375.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1065,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000857381.1",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527440.1",
"strand": true,
"transcript": "ENST00000857381.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2505,
"cdna_start": 309,
"cds_end": null,
"cds_length": 1065,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000857382.1",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527441.1",
"strand": true,
"transcript": "ENST00000857382.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1678,
"cdna_start": 398,
"cds_end": null,
"cds_length": 1065,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857387.1",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527446.1",
"strand": true,
"transcript": "ENST00000857387.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2033,
"cdna_start": 753,
"cds_end": null,
"cds_length": 1065,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857389.1",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527448.1",
"strand": true,
"transcript": "ENST00000857389.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 285,
"cds_end": null,
"cds_length": 1065,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000949828.1",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619887.1",
"strand": true,
"transcript": "ENST00000949828.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 353,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 327,
"cds_end": null,
"cds_length": 1062,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000928763.1",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598822.1",
"strand": true,
"transcript": "ENST00000928763.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 318,
"aa_ref": "R",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1509,
"cdna_start": 322,
"cds_end": null,
"cds_length": 957,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000857383.1",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527442.1",
"strand": true,
"transcript": "ENST00000857383.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 312,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1495,
"cdna_start": 308,
"cds_end": null,
"cds_length": 939,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001363881.1",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350810.1",
"strand": true,
"transcript": "NM_001363881.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 312,
"aa_ref": "R",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2350,
"cdna_start": 275,
"cds_end": null,
"cds_length": 939,
"cds_start": 220,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000857377.1",
"gene_hgnc_id": 24446,
"gene_symbol": "HMCES",
"hgvs_c": "c.220C>T",
"hgvs_p": "p.Arg74Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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