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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: 7-17801646-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=17801646&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 17801646,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001350862.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2240T>C",
"hgvs_p": "p.Ile747Thr",
"transcript": "NM_015132.5",
"protein_id": "NP_055947.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 957,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 2439,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": "ENST00000428135.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015132.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2240T>C",
"hgvs_p": "p.Ile747Thr",
"transcript": "ENST00000428135.7",
"protein_id": "ENSP00000398789.2",
"transcript_support_level": 1,
"aa_start": 747,
"aa_end": null,
"aa_length": 957,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 2439,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": "NM_015132.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428135.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2273T>C",
"hgvs_p": "p.Ile758Thr",
"transcript": "ENST00000611725.4",
"protein_id": "ENSP00000479044.1",
"transcript_support_level": 1,
"aa_start": 758,
"aa_end": null,
"aa_length": 888,
"cds_start": 2273,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 6817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611725.4"
},
{
"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": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "n.584T>C",
"hgvs_p": null,
"transcript": "ENST00000496855.1",
"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": 1499,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496855.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2273T>C",
"hgvs_p": "p.Ile758Thr",
"transcript": "NM_001350862.2",
"protein_id": "NP_001337791.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 968,
"cds_start": 2273,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2472,
"cdna_end": null,
"cdna_length": 6390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350862.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2273T>C",
"hgvs_p": "p.Ile758Thr",
"transcript": "ENST00000862559.1",
"protein_id": "ENSP00000532618.1",
"transcript_support_level": null,
"aa_start": 758,
"aa_end": null,
"aa_length": 968,
"cds_start": 2273,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2649,
"cdna_end": null,
"cdna_length": 6567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862559.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2234T>C",
"hgvs_p": "p.Ile745Thr",
"transcript": "ENST00000959595.1",
"protein_id": "ENSP00000629654.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 955,
"cds_start": 2234,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2442,
"cdna_end": null,
"cdna_length": 4279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959595.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2201T>C",
"hgvs_p": "p.Ile734Thr",
"transcript": "ENST00000862561.1",
"protein_id": "ENSP00000532620.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 944,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2835,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 6332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862561.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2171T>C",
"hgvs_p": "p.Ile724Thr",
"transcript": "ENST00000959598.1",
"protein_id": "ENSP00000629657.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 934,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959598.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2168T>C",
"hgvs_p": "p.Ile723Thr",
"transcript": "ENST00000959596.1",
"protein_id": "ENSP00000629655.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 933,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2367,
"cdna_end": null,
"cdna_length": 4203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959596.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2165T>C",
"hgvs_p": "p.Ile722Thr",
"transcript": "ENST00000959599.1",
"protein_id": "ENSP00000629658.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 932,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 3595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959599.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2138T>C",
"hgvs_p": "p.Ile713Thr",
"transcript": "ENST00000862563.1",
"protein_id": "ENSP00000532622.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 923,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2353,
"cdna_end": null,
"cdna_length": 4189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862563.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2135T>C",
"hgvs_p": "p.Ile712Thr",
"transcript": "ENST00000862564.1",
"protein_id": "ENSP00000532623.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 922,
"cds_start": 2135,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 2341,
"cdna_end": null,
"cdna_length": 4177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862564.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2132T>C",
"hgvs_p": "p.Ile711Thr",
"transcript": "ENST00000939179.1",
"protein_id": "ENSP00000609238.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 921,
"cds_start": 2132,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939179.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2111T>C",
"hgvs_p": "p.Ile704Thr",
"transcript": "ENST00000862560.1",
"protein_id": "ENSP00000532619.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 914,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2329,
"cdna_end": null,
"cdna_length": 6245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862560.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2084T>C",
"hgvs_p": "p.Ile695Thr",
"transcript": "ENST00000959597.1",
"protein_id": "ENSP00000629656.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 905,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2282,
"cdna_end": null,
"cdna_length": 4080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959597.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2078T>C",
"hgvs_p": "p.Ile693Thr",
"transcript": "ENST00000862562.1",
"protein_id": "ENSP00000532621.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 903,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2291,
"cdna_end": null,
"cdna_length": 6201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862562.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.2000T>C",
"hgvs_p": "p.Ile667Thr",
"transcript": "NM_001350863.2",
"protein_id": "NP_001337792.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 877,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 2432,
"cdna_end": null,
"cdna_length": 6350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350863.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1934T>C",
"hgvs_p": "p.Ile645Thr",
"transcript": "NM_001350864.2",
"protein_id": "NP_001337793.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 855,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 2506,
"cdna_end": null,
"cdna_length": 6424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350864.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1631T>C",
"hgvs_p": "p.Ile544Thr",
"transcript": "NM_001350866.2",
"protein_id": "NP_001337795.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 754,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2668,
"cdna_end": null,
"cdna_length": 6586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350866.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1631T>C",
"hgvs_p": "p.Ile544Thr",
"transcript": "NM_001350867.2",
"protein_id": "NP_001337796.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 754,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2602,
"cdna_end": null,
"cdna_length": 6520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350867.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX13",
"gene_hgnc_id": 21335,
"hgvs_c": "c.1415T>C",
"hgvs_p": "p.Ile472Thr",
"transcript": "ENST00000959594.1",
"protein_id": "ENSP00000629653.1",
"transcript_support_level": null,
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}