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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: 9-13188918-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=13188918&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 13188918,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000319217.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_001378778.1",
"protein_id": "NP_001365707.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 2070,
"cds_start": 2230,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 2580,
"cdna_end": null,
"cdna_length": 7821,
"mane_select": "ENST00000319217.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "ENST00000319217.12",
"protein_id": "ENSP00000320006.7",
"transcript_support_level": 5,
"aa_start": 744,
"aa_end": null,
"aa_length": 2070,
"cds_start": 2230,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 2580,
"cdna_end": null,
"cdna_length": 7821,
"mane_select": "NM_001378778.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "ENST00000541718.5",
"protein_id": "ENSP00000439807.1",
"transcript_support_level": 1,
"aa_start": 744,
"aa_end": null,
"aa_length": 2041,
"cds_start": 2230,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 2452,
"cdna_end": null,
"cdna_length": 7603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "ENST00000447879.6",
"protein_id": "ENSP00000415208.1",
"transcript_support_level": 1,
"aa_start": 744,
"aa_end": null,
"aa_length": 2037,
"cds_start": 2230,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 2452,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "ENST00000536827.5",
"protein_id": "ENSP00000444151.1",
"transcript_support_level": 1,
"aa_start": 744,
"aa_end": null,
"aa_length": 2008,
"cds_start": 2230,
"cds_end": null,
"cds_length": 6027,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 6176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_001375413.1",
"protein_id": "NP_001362342.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 2103,
"cds_start": 2230,
"cds_end": null,
"cds_length": 6312,
"cdna_start": 2653,
"cdna_end": null,
"cdna_length": 7993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "ENST00000546205.5",
"protein_id": "ENSP00000446358.1",
"transcript_support_level": 5,
"aa_start": 744,
"aa_end": null,
"aa_length": 2084,
"cds_start": 2230,
"cds_end": null,
"cds_length": 6255,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 6342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_001330637.2",
"protein_id": "NP_001317566.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 2070,
"cds_start": 2230,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 7657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_003829.5",
"protein_id": "NP_003820.2",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 2041,
"cds_start": 2230,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 2580,
"cdna_end": null,
"cdna_length": 7734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_001261406.2",
"protein_id": "NP_001248335.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 2037,
"cds_start": 2230,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 2580,
"cdna_end": null,
"cdna_length": 7722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_001375416.1",
"protein_id": "NP_001362345.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 2037,
"cds_start": 2230,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 7558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_001375417.1",
"protein_id": "NP_001362346.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 2037,
"cds_start": 2230,
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"cds_length": 6114,
"cdna_start": 2653,
"cdna_end": null,
"cdna_length": 7795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_001375418.1",
"protein_id": "NP_001362347.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 2037,
"cds_start": 2230,
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"cds_length": 6114,
"cdna_start": 2614,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
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"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_001261407.2",
"protein_id": "NP_001248336.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_001375419.1",
"protein_id": "NP_001362348.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 2008,
"cds_start": 2230,
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"cdna_start": 2416,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_001375420.1",
"protein_id": "NP_001362349.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_001375421.1",
"protein_id": "NP_001362350.1",
"transcript_support_level": null,
"aa_start": 744,
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"aa_length": 2000,
"cds_start": 2230,
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"cdna_length": 8179,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_001375422.1",
"protein_id": "NP_001362351.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
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"cds_start": 2230,
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"cdna_start": 2950,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_001375423.1",
"protein_id": "NP_001362352.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_001375424.1",
"protein_id": "NP_001362353.1",
"transcript_support_level": null,
"aa_start": 744,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
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"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_001375425.1",
"protein_id": "NP_001362354.1",
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"aa_start": 744,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Arg744*",
"transcript": "NM_001375426.1",
"protein_id": "NP_001362355.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 1971,
"cds_start": 2230,
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"cdna_start": 2580,
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"cdna_length": 7524,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.2230C>T",
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}