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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: 17-77482288-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=77482288&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 77482288,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000427177.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.866G>T",
"hgvs_p": "p.Arg289Leu",
"transcript": "NM_001113491.2",
"protein_id": "NP_001106963.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 586,
"cds_start": 866,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": "ENST00000427177.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.866G>T",
"hgvs_p": "p.Arg289Leu",
"transcript": "ENST00000427177.6",
"protein_id": "ENSP00000391249.1",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 586,
"cds_start": 866,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": "NM_001113491.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.812G>T",
"hgvs_p": "p.Arg271Leu",
"transcript": "NM_006640.5",
"protein_id": "NP_006631.2",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 568,
"cds_start": 812,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": null,
"mane_plus": "ENST00000329047.13",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.812G>T",
"hgvs_p": "p.Arg271Leu",
"transcript": "ENST00000329047.13",
"protein_id": "ENSP00000329161.8",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 568,
"cds_start": 812,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": null,
"mane_plus": "NM_006640.5",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.845G>T",
"hgvs_p": "p.Arg282Leu",
"transcript": "ENST00000423034.6",
"protein_id": "ENSP00000405877.1",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 579,
"cds_start": 845,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.374G>T",
"hgvs_p": "p.Arg125Leu",
"transcript": "ENST00000427674.6",
"protein_id": "ENSP00000403194.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 422,
"cds_start": 374,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 3937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.113G>T",
"hgvs_p": "p.Arg38Leu",
"transcript": "ENST00000541152.6",
"protein_id": "ENSP00000438089.2",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 335,
"cds_start": 113,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.845G>T",
"hgvs_p": "p.Arg282Leu",
"transcript": "NM_001113493.2",
"protein_id": "NP_001106965.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 579,
"cds_start": 845,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 3836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.809G>T",
"hgvs_p": "p.Arg270Leu",
"transcript": "NM_001293695.2",
"protein_id": "NP_001280624.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 567,
"cds_start": 809,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.809G>T",
"hgvs_p": "p.Arg270Leu",
"transcript": "ENST00000591198.5",
"protein_id": "ENSP00000468406.1",
"transcript_support_level": 2,
"aa_start": 270,
"aa_end": null,
"aa_length": 567,
"cds_start": 809,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.374G>T",
"hgvs_p": "p.Arg125Leu",
"transcript": "NM_001113492.2",
"protein_id": "NP_001106964.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 422,
"cds_start": 374,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 3953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.374G>T",
"hgvs_p": "p.Arg125Leu",
"transcript": "NM_001113494.1",
"protein_id": "NP_001106966.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 422,
"cds_start": 374,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 3939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.374G>T",
"hgvs_p": "p.Arg125Leu",
"transcript": "ENST00000431235.6",
"protein_id": "ENSP00000406987.2",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 422,
"cds_start": 374,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 4004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.374G>T",
"hgvs_p": "p.Arg125Leu",
"transcript": "ENST00000449803.6",
"protein_id": "ENSP00000400181.2",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 422,
"cds_start": 374,
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"cdna_start": 1167,
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"cdna_length": 3996,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.374G>T",
"hgvs_p": "p.Arg125Leu",
"transcript": "ENST00000588690.6",
"protein_id": "ENSP00000468668.1",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 422,
"cds_start": 374,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.194G>T",
"hgvs_p": "p.Arg65Leu",
"transcript": "NM_001293696.2",
"protein_id": "NP_001280625.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 362,
"cds_start": 194,
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"cdna_start": 209,
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"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.194G>T",
"hgvs_p": "p.Arg65Leu",
"transcript": "ENST00000585930.5",
"protein_id": "ENSP00000468120.1",
"transcript_support_level": 2,
"aa_start": 65,
"aa_end": null,
"aa_length": 362,
"cds_start": 194,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 1387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.113G>T",
"hgvs_p": "p.Arg38Leu",
"transcript": "NM_001113495.2",
"protein_id": "NP_001106967.2",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 335,
"cds_start": 113,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.113G>T",
"hgvs_p": "p.Arg38Leu",
"transcript": "NM_001113496.2",
"protein_id": "NP_001106968.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.113G>T",
"hgvs_p": "p.Arg38Leu",
"transcript": "NM_001293697.2",
"protein_id": "NP_001280626.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 335,
"cds_start": 113,
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"cdna_start": 190,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.113G>T",
"hgvs_p": "p.Arg38Leu",
"transcript": "NM_001293698.2",
"protein_id": "NP_001280627.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 335,
"cds_start": 113,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 3312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.113G>T",
"hgvs_p": "p.Arg38Leu",
"transcript": "ENST00000427180.5",
"protein_id": "ENSP00000504196.1",
"transcript_support_level": 2,
"aa_start": 38,
"aa_end": null,
"aa_length": 335,
"cds_start": 113,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
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