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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: 9-35092518-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35092518&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35092518,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032634.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Leu457Phe",
"transcript": "NM_032634.4",
"protein_id": "NP_116023.2",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 1089,
"cds_start": 1369,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": "ENST00000378617.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Leu457Phe",
"transcript": "ENST00000378617.4",
"protein_id": "ENSP00000367880.3",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 1089,
"cds_start": 1369,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": "NM_032634.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "c.1344+25C>T",
"hgvs_p": null,
"transcript": "ENST00000298004.9",
"protein_id": "ENSP00000298004.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 672,
"cds_start": -4,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Leu457Phe",
"transcript": "XM_005251619.4",
"protein_id": "XP_005251676.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 1089,
"cds_start": 1369,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 3706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Leu457Phe",
"transcript": "XM_047423974.1",
"protein_id": "XP_047279930.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 965,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "n.2370C>T",
"hgvs_p": null,
"transcript": "ENST00000465745.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "n.2827C>T",
"hgvs_p": null,
"transcript": "ENST00000474436.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "n.*549C>T",
"hgvs_p": null,
"transcript": "ENST00000700255.1",
"protein_id": "ENSP00000514893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "n.1401C>T",
"hgvs_p": null,
"transcript": "ENST00000700256.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "n.1369C>T",
"hgvs_p": null,
"transcript": "ENST00000700257.1",
"protein_id": "ENSP00000514894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "n.*549C>T",
"hgvs_p": null,
"transcript": "ENST00000700263.1",
"protein_id": "ENSP00000514899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "n.1369C>T",
"hgvs_p": null,
"transcript": "ENST00000700264.1",
"protein_id": "ENSP00000514900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "n.*549C>T",
"hgvs_p": null,
"transcript": "ENST00000700255.1",
"protein_id": "ENSP00000514893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "n.*549C>T",
"hgvs_p": null,
"transcript": "ENST00000700263.1",
"protein_id": "ENSP00000514899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "c.1360+9C>T",
"hgvs_p": null,
"transcript": "ENST00000700261.1",
"protein_id": "ENSP00000514897.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": -4,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "c.1344+25C>T",
"hgvs_p": null,
"transcript": "NM_001201484.2",
"protein_id": "NP_001188413.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 672,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2959,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "c.1344+25C>T",
"hgvs_p": null,
"transcript": "NM_152850.4",
"protein_id": "NP_690577.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 672,
"cds_start": -4,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "c.1344+25C>T",
"hgvs_p": null,
"transcript": "ENST00000361778.7",
"protein_id": "ENSP00000354678.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 672,
"cds_start": -4,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "c.1344+25C>T",
"hgvs_p": null,
"transcript": "ENST00000700254.2",
"protein_id": "ENSP00000514892.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "c.1164+25C>T",
"hgvs_p": null,
"transcript": "ENST00000700260.1",
"protein_id": "ENSP00000514896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": -4,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
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"cdna_length": 2219,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "n.1344+25C>T",
"hgvs_p": null,
"transcript": "ENST00000700259.1",
"protein_id": "ENSP00000514895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_length": 2694,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"hgvs_c": "n.1344+25C>T",
"hgvs_p": null,
"transcript": "ENST00000700262.1",
"protein_id": "ENSP00000514898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PIGO",
"gene_hgnc_id": 23215,
"dbsnp": "rs769460289",
"frequency_reference_population": 6.840797e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8408e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12423792481422424,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.153,
"revel_prediction": "Benign",
"alphamissense_score": 0.1698,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.425,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032634.4",
"gene_symbol": "PIGO",
"hgnc_id": 23215,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Leu457Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}