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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: 1-156904836-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156904836&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "PEAR1",
"hgnc_id": 33631,
"hgvs_c": "c.-149A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001353682.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.0573,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "1",
"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": 0.0862378478050232,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "T",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4874,
"cdna_start": 319,
"cds_end": null,
"cds_length": 3114,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001080471.3",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Thr64Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000292357.8",
"protein_coding": true,
"protein_id": "NP_001073940.1",
"strand": true,
"transcript": "NM_001080471.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "T",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4874,
"cdna_start": 319,
"cds_end": null,
"cds_length": 3114,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000292357.8",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Thr64Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001080471.3",
"protein_coding": true,
"protein_id": "ENSP00000292357.7",
"strand": true,
"transcript": "ENST00000292357.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 973,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5020,
"cdna_start": null,
"cds_end": null,
"cds_length": 2922,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001353682.2",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.-149A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340611.1",
"strand": true,
"transcript": "NM_001353682.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 973,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5179,
"cdna_start": null,
"cds_end": null,
"cds_length": 2922,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001353683.2",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.-149A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340612.1",
"strand": true,
"transcript": "NM_001353683.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 973,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4929,
"cdna_start": null,
"cds_end": null,
"cds_length": 2922,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017001239.2",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.-58A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856728.1",
"strand": true,
"transcript": "XM_017001239.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 973,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5088,
"cdna_start": null,
"cds_end": null,
"cds_length": 2922,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047419737.1",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.-58A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275693.1",
"strand": true,
"transcript": "XM_047419737.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 909,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4518,
"cdna_start": null,
"cds_end": null,
"cds_length": 2730,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017001240.1",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.-85A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856729.1",
"strand": true,
"transcript": "XM_017001240.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 909,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4666,
"cdna_start": null,
"cds_end": null,
"cds_length": 2730,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017001241.1",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.-231A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856730.1",
"strand": true,
"transcript": "XM_017001241.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1046,
"aa_ref": "T",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5062,
"cdna_start": 486,
"cds_end": null,
"cds_length": 3141,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000971373.1",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Thr64Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641432.1",
"strand": true,
"transcript": "ENST00000971373.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "T",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4970,
"cdna_start": 415,
"cds_end": null,
"cds_length": 3114,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000338302.7",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Thr64Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344465.3",
"strand": true,
"transcript": "ENST00000338302.7",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "T",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5088,
"cdna_start": 530,
"cds_end": null,
"cds_length": 3114,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858321.1",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Thr64Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528380.1",
"strand": true,
"transcript": "ENST00000858321.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 1037,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4933,
"cdna_start": 378,
"cds_end": null,
"cds_length": 3114,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858323.1",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Thr64Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528382.1",
"strand": true,
"transcript": "ENST00000858323.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5019,
"cdna_start": 468,
"cds_end": null,
"cds_length": 3114,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858325.1",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Thr64Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528384.1",
"strand": true,
"transcript": "ENST00000858325.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "T",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4961,
"cdna_start": 406,
"cds_end": null,
"cds_length": 3114,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858326.1",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Thr64Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528385.1",
"strand": true,
"transcript": "ENST00000858326.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 1036,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4967,
"cdna_start": 415,
"cds_end": null,
"cds_length": 3111,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000858324.1",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Thr64Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528383.1",
"strand": true,
"transcript": "ENST00000858324.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 172,
"aa_ref": "T",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 642,
"cdna_start": 312,
"cds_end": null,
"cds_length": 520,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000455314.5",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Thr64Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389742.1",
"strand": true,
"transcript": "ENST00000455314.5",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "I",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6114,
"cdna_start": 1504,
"cds_end": null,
"cds_length": 3378,
"cds_start": 399,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017001234.3",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.399A>G",
"hgvs_p": "p.Ile133Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856723.1",
"strand": true,
"transcript": "XM_017001234.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 1081,
"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5984,
"cdna_start": 1506,
"cds_end": null,
"cds_length": 3246,
"cds_start": 399,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017001235.3",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.399A>G",
"hgvs_p": "p.Ile133Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856724.1",
"strand": true,
"transcript": "XM_017001235.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5033,
"cdna_start": 478,
"cds_end": null,
"cds_length": 3114,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005245141.4",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Thr64Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245198.1",
"strand": true,
"transcript": "XM_005245141.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "T",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4972,
"cdna_start": 417,
"cds_end": null,
"cds_length": 3114,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011509510.3",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Thr64Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507812.1",
"strand": true,
"transcript": "XM_011509510.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "T",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4935,
"cdna_start": 380,
"cds_end": null,
"cds_length": 3114,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017001236.2",
"gene_hgnc_id": 33631,
"gene_symbol": "PEAR1",
"hgvs_c": "c.190A>G",
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