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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: 11-3824097-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=3824097&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 3824097,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014489.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Leu188Ser",
"transcript": "NM_014489.4",
"protein_id": "NP_055304.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 315,
"cds_start": 563,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278243.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014489.4"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Leu188Ser",
"transcript": "ENST00000278243.9",
"protein_id": "ENSP00000278243.4",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 315,
"cds_start": 563,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014489.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278243.9"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.551T>C",
"hgvs_p": "p.Leu184Ser",
"transcript": "ENST00000300730.10",
"protein_id": "ENSP00000300730.6",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 307,
"cds_start": 551,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300730.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.-89T>C",
"hgvs_p": null,
"transcript": "ENST00000396993.8",
"protein_id": "ENSP00000380190.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396993.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.312T>C",
"hgvs_p": null,
"transcript": "ENST00000465237.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000465237.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.*294T>C",
"hgvs_p": null,
"transcript": "ENST00000528216.5",
"protein_id": "ENSP00000432215.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000528216.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "n.*294T>C",
"hgvs_p": null,
"transcript": "ENST00000528216.5",
"protein_id": "ENSP00000432215.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000528216.5"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Leu188Ser",
"transcript": "NM_001256236.2",
"protein_id": "NP_001243165.2",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 315,
"cds_start": 563,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256236.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Leu188Ser",
"transcript": "ENST00000464906.6",
"protein_id": "ENSP00000434631.2",
"transcript_support_level": 2,
"aa_start": 188,
"aa_end": null,
"aa_length": 315,
"cds_start": 563,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464906.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.551T>C",
"hgvs_p": "p.Leu184Ser",
"transcript": "ENST00000396986.6",
"protein_id": "ENSP00000380183.2",
"transcript_support_level": 2,
"aa_start": 184,
"aa_end": null,
"aa_length": 311,
"cds_start": 551,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396986.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.533T>C",
"hgvs_p": "p.Leu178Ser",
"transcript": "NM_001346397.2",
"protein_id": "NP_001333326.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 305,
"cds_start": 533,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346397.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Leu188Ser",
"transcript": "NM_001346403.1",
"protein_id": "NP_001333332.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 295,
"cds_start": 563,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346403.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.500T>C",
"hgvs_p": "p.Leu167Ser",
"transcript": "NM_001346402.2",
"protein_id": "NP_001333331.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 294,
"cds_start": 500,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346402.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Leu127Ser",
"transcript": "ENST00000864245.1",
"protein_id": "ENSP00000534304.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 282,
"cds_start": 380,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864245.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Leu127Ser",
"transcript": "ENST00000864251.1",
"protein_id": "ENSP00000534310.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 282,
"cds_start": 380,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864251.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Leu145Ser",
"transcript": "NM_001256235.2",
"protein_id": "NP_001243164.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 272,
"cds_start": 434,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256235.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Leu145Ser",
"transcript": "ENST00000396991.6",
"protein_id": "ENSP00000380188.3",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 272,
"cds_start": 434,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396991.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Leu127Ser",
"transcript": "NM_001256240.2",
"protein_id": "NP_001243169.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 254,
"cds_start": 380,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256240.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Leu127Ser",
"transcript": "NM_001283038.2",
"protein_id": "NP_001269967.2",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 254,
"cds_start": 380,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283038.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Leu127Ser",
"transcript": "NM_001346398.2",
"protein_id": "NP_001333327.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 254,
"cds_start": 380,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346398.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Leu127Ser",
"transcript": "NM_001346405.1",
"protein_id": "NP_001333334.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 254,
"cds_start": 380,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346405.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGAP2",
"gene_hgnc_id": 17893,
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Leu127Ser",
"transcript": "ENST00000463452.6",
"protein_id": "ENSP00000435223.1",
"transcript_support_level": 2,
"aa_start": 127,
"aa_end": null,
"aa_length": 254,
"cds_start": 380,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463452.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
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"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9704510569572449,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.63,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9978,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.156,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_014489.4",
"gene_symbol": "PGAP2",
"hgnc_id": 17893,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Leu188Ser"
}
],
"clinvar_disease": "Hyperphosphatasia with intellectual disability syndrome 3,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hyperphosphatasia with intellectual disability syndrome 3|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}