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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: 10-35188293-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=35188293&ref=C&alt=T&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": "CREM",
"hgnc_id": 2352,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_181571.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0847,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.24447894096374512,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 299,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2857,
"cdna_start": 905,
"cds_end": null,
"cds_length": 900,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_183011.2",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000685392.1",
"protein_coding": true,
"protein_id": "NP_898829.1",
"strand": true,
"transcript": "NM_183011.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 299,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2857,
"cdna_start": 905,
"cds_end": null,
"cds_length": 900,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000685392.1",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_183011.2",
"protein_coding": true,
"protein_id": "ENSP00000509489.1",
"strand": true,
"transcript": "ENST00000685392.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 300,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2220,
"cdna_start": 665,
"cds_end": null,
"cds_length": 903,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000345491.7",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000265372.5",
"strand": true,
"transcript": "ENST00000345491.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 245,
"aa_ref": "A",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1541,
"cdna_start": 448,
"cds_end": null,
"cds_length": 738,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000342105.7",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341875.3",
"strand": true,
"transcript": "ENST00000342105.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1589,
"cdna_start": null,
"cds_end": null,
"cds_length": 747,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354759.7",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.409+9017C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346804.3",
"strand": true,
"transcript": "ENST00000354759.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 221,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": null,
"cds_end": null,
"cds_length": 666,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000348787.6",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.361+9017C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345384.2",
"strand": true,
"transcript": "ENST00000348787.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 345,
"aa_ref": "A",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1476,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1038,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000429130.7",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.602C>T",
"hgvs_p": "p.Ala201Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393538.2",
"strand": true,
"transcript": "ENST00000429130.7",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 312,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 939,
"cdna_start": 503,
"cds_end": null,
"cds_length": 939,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000479070.5",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420511.1",
"strand": true,
"transcript": "ENST00000479070.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 300,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 905,
"cds_end": null,
"cds_length": 903,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001394595.1",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381524.1",
"strand": true,
"transcript": "NM_001394595.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 300,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2448,
"cdna_start": 898,
"cds_end": null,
"cds_length": 903,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_181571.3",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_853549.1",
"strand": true,
"transcript": "NM_181571.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 300,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 685,
"cds_end": null,
"cds_length": 903,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000686585.1",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510546.1",
"strand": true,
"transcript": "ENST00000686585.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 299,
"aa_ref": "A",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 900,
"cdna_start": 503,
"cds_end": null,
"cds_length": 900,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000337656.8",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Ala168Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000337138.4",
"strand": true,
"transcript": "ENST00000337656.8",
"transcript_support_level": 5
},
{
"aa_alt": "V",
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"aa_length": 296,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 807,
"cds_end": null,
"cds_length": 891,
"cds_start": 455,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001394598.1",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Ala152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381527.1",
"strand": true,
"transcript": "NM_001394598.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 807,
"cds_end": null,
"cds_length": 855,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001394600.1",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Ala152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381529.1",
"strand": true,
"transcript": "NM_001394600.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 283,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2759,
"cdna_start": 807,
"cds_end": null,
"cds_length": 852,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001394602.1",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Ala152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381531.1",
"strand": true,
"transcript": "NM_001394602.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": 575,
"cds_end": null,
"cds_length": 849,
"cds_start": 413,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001267564.2",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001254493.1",
"strand": true,
"transcript": "NM_001267564.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": 575,
"cds_end": null,
"cds_length": 849,
"cds_start": 413,
"consequences": [
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],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000395887.8",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379225.3",
"strand": true,
"transcript": "ENST00000395887.8",
"transcript_support_level": 5
},
{
"aa_alt": "V",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2125,
"cdna_start": 575,
"cds_end": null,
"cds_length": 813,
"cds_start": 413,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_182771.2",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_877572.1",
"strand": true,
"transcript": "NM_182771.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 270,
"aa_ref": "A",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 623,
"cds_end": null,
"cds_length": 813,
"cds_start": 413,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000361599.8",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354593.4",
"strand": true,
"transcript": "ENST00000361599.8",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 250,
"aa_ref": "A",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 807,
"cds_end": null,
"cds_length": 753,
"cds_start": 455,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001394603.1",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Ala152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381532.1",
"strand": true,
"transcript": "NM_001394603.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 245,
"aa_ref": "A",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1998,
"cdna_start": 448,
"cds_end": null,
"cds_length": 738,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_182769.3",
"gene_hgnc_id": 2352,
"gene_symbol": "CREM",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_877570.1",
"strand": true,
"transcript": "NM_182769.3",
"transcript_support_level": null
},
{
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