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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: 17-58521025-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=58521025&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 58521025,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001368771.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.2804G>T",
"hgvs_p": "p.Arg935Leu",
"transcript": "NM_001368771.2",
"protein_id": "NP_001355700.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 996,
"cds_start": 2804,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000672673.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368771.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.2804G>T",
"hgvs_p": "p.Arg935Leu",
"transcript": "ENST00000672673.2",
"protein_id": "ENSP00000500383.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 996,
"cds_start": 2804,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001368771.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672673.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1250G>T",
"hgvs_p": "p.Arg417Leu",
"transcript": "ENST00000317268.7",
"protein_id": "ENSP00000321674.3",
"transcript_support_level": 1,
"aa_start": 417,
"aa_end": null,
"aa_length": 478,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317268.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "ENST00000317256.10",
"protein_id": "ENSP00000321071.6",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 459,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317256.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.*481G>T",
"hgvs_p": null,
"transcript": "ENST00000426861.5",
"protein_id": "ENSP00000402348.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 274,
"cds_start": null,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426861.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "n.1389G>T",
"hgvs_p": null,
"transcript": "ENST00000584488.5",
"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": "ENST00000584488.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Arg432Leu",
"transcript": "NM_001256782.2",
"protein_id": "NP_001243711.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 493,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256782.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Arg432Leu",
"transcript": "ENST00000457347.6",
"protein_id": "ENSP00000402000.2",
"transcript_support_level": 2,
"aa_start": 432,
"aa_end": null,
"aa_length": 493,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457347.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Arg432Leu",
"transcript": "ENST00000672699.1",
"protein_id": "ENSP00000500355.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 493,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672699.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1250G>T",
"hgvs_p": "p.Arg417Leu",
"transcript": "NM_004574.5",
"protein_id": "NP_004565.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 478,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004574.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1229G>T",
"hgvs_p": "p.Arg410Leu",
"transcript": "NM_001368772.2",
"protein_id": "NP_001355701.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 471,
"cds_start": 1229,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368772.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1226G>T",
"hgvs_p": "p.Arg409Leu",
"transcript": "NM_001198713.2",
"protein_id": "NP_001185642.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 470,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198713.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1226G>T",
"hgvs_p": "p.Arg409Leu",
"transcript": "ENST00000412945.7",
"protein_id": "ENSP00000414779.3",
"transcript_support_level": 2,
"aa_start": 409,
"aa_end": null,
"aa_length": 470,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412945.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "NM_080416.4",
"protein_id": "NP_536341.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 459,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080416.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Arg398Leu",
"transcript": "ENST00000393086.5",
"protein_id": "ENSP00000376801.1",
"transcript_support_level": 5,
"aa_start": 398,
"aa_end": null,
"aa_length": 459,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393086.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.953G>T",
"hgvs_p": "p.Arg318Leu",
"transcript": "NM_001363803.2",
"protein_id": "NP_001350732.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 379,
"cds_start": 953,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363803.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.953G>T",
"hgvs_p": "p.Arg318Leu",
"transcript": "ENST00000580844.5",
"protein_id": "ENSP00000462727.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 379,
"cds_start": 953,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580844.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.953G>T",
"hgvs_p": "p.Arg318Leu",
"transcript": "ENST00000579371.5",
"protein_id": "ENSP00000464373.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 332,
"cds_start": 953,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579371.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.809G>T",
"hgvs_p": "p.Arg270Leu",
"transcript": "NM_001256822.2",
"protein_id": "NP_001243751.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 331,
"cds_start": 809,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256822.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.809G>T",
"hgvs_p": "p.Arg270Leu",
"transcript": "ENST00000583114.5",
"protein_id": "ENSP00000463768.1",
"transcript_support_level": 2,
"aa_start": 270,
"aa_end": null,
"aa_length": 331,
"cds_start": 809,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583114.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Arg432Leu",
"transcript": "XM_047436309.1",
"protein_id": "XP_047292265.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 493,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436309.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1265G>T",
"hgvs_p": "p.Arg422Leu",
"transcript": "XM_006721949.4",
"protein_id": "XP_006722012.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 483,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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}