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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: 10-3113161-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=3113161&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 3113161,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000381125.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.1197C>G",
"hgvs_p": "p.Ile399Met",
"transcript": "NM_002627.5",
"protein_id": "NP_002618.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 784,
"cds_start": 1197,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": "ENST00000381125.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.1197C>G",
"hgvs_p": "p.Ile399Met",
"transcript": "ENST00000381125.9",
"protein_id": "ENSP00000370517.4",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 784,
"cds_start": 1197,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": "NM_002627.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.1197C>G",
"hgvs_p": "p.Ile399Met",
"transcript": "NM_001410880.1",
"protein_id": "NP_001397809.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 835,
"cds_start": 1197,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.1197C>G",
"hgvs_p": "p.Ile399Met",
"transcript": "ENST00000699222.1",
"protein_id": "ENSP00000514216.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 835,
"cds_start": 1197,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.1173C>G",
"hgvs_p": "p.Ile391Met",
"transcript": "NM_001242339.2",
"protein_id": "NP_001229268.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 776,
"cds_start": 1173,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.1116C>G",
"hgvs_p": "p.Ile372Met",
"transcript": "NM_001323067.2",
"protein_id": "NP_001309996.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 757,
"cds_start": 1116,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.1083C>G",
"hgvs_p": "p.Ile361Met",
"transcript": "NM_001323071.2",
"protein_id": "NP_001310000.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 746,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.1083C>G",
"hgvs_p": "p.Ile361Met",
"transcript": "NM_001323072.2",
"protein_id": "NP_001310001.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 746,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 2877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.1083C>G",
"hgvs_p": "p.Ile361Met",
"transcript": "NM_001345944.1",
"protein_id": "NP_001332873.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 746,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.1083C>G",
"hgvs_p": "p.Ile361Met",
"transcript": "ENST00000381075.7",
"protein_id": "ENSP00000370465.3",
"transcript_support_level": 2,
"aa_start": 361,
"aa_end": null,
"aa_length": 746,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.1083C>G",
"hgvs_p": "p.Ile361Met",
"transcript": "ENST00000676796.1",
"protein_id": "ENSP00000503786.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 746,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.1197C>G",
"hgvs_p": "p.Ile399Met",
"transcript": "NM_001323068.2",
"protein_id": "NP_001309997.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 733,
"cds_start": 1197,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.690C>G",
"hgvs_p": "p.Ile230Met",
"transcript": "NM_001323069.2",
"protein_id": "NP_001309998.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 615,
"cds_start": 690,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 2621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.549C>G",
"hgvs_p": "p.Ile183Met",
"transcript": "NM_001323073.1",
"protein_id": "NP_001310002.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 568,
"cds_start": 549,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.549C>G",
"hgvs_p": "p.Ile183Met",
"transcript": "NM_001323074.1",
"protein_id": "NP_001310003.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 568,
"cds_start": 549,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.549C>G",
"hgvs_p": "p.Ile183Met",
"transcript": "ENST00000415005.6",
"protein_id": "ENSP00000408858.2",
"transcript_support_level": 2,
"aa_start": 183,
"aa_end": null,
"aa_length": 568,
"cds_start": 549,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.549C>G",
"hgvs_p": "p.Ile183Met",
"transcript": "NM_001323070.1",
"protein_id": "NP_001309999.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 517,
"cds_start": 549,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.1083C>G",
"hgvs_p": "p.Ile361Met",
"transcript": "XM_006717449.2",
"protein_id": "XP_006717512.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 797,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.1083C>G",
"hgvs_p": "p.Ile361Met",
"transcript": "XM_047425350.1",
"protein_id": "XP_047281306.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 797,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "c.1197C>G",
"hgvs_p": "p.Ile399Met",
"transcript": "XM_005252466.5",
"protein_id": "XP_005252523.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 784,
"cds_start": 1197,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 2629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "n.*1004C>G",
"hgvs_p": null,
"transcript": "ENST00000678089.1",
"protein_id": "ENSP00000503212.1",
"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": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "n.*677C>G",
"hgvs_p": null,
"transcript": "ENST00000678206.1",
"protein_id": "ENSP00000504635.1",
"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": 2685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKP",
"gene_hgnc_id": 8878,
"hgvs_c": "n.*1004C>G",
"hgvs_p": null,
"transcript": "ENST00000678089.1",
"protein_id": "ENSP00000503212.1",
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},
{
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],
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.22562387585639954,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.288,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.357,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000381125.9",
"gene_symbol": "PFKP",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ile399Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}