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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: 9-13219604-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=13219604&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 13219604,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000319217.12",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_001378778.1",
"protein_id": "NP_001365707.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1041,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 7821,
"mane_select": "ENST00000319217.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "ENST00000319217.12",
"protein_id": "ENSP00000320006.7",
"transcript_support_level": 5,
"aa_start": 347,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1041,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 7821,
"mane_select": "NM_001378778.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "ENST00000541718.5",
"protein_id": "ENSP00000439807.1",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 2041,
"cds_start": 1041,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 7603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "ENST00000447879.6",
"protein_id": "ENSP00000415208.1",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1041,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "ENST00000536827.5",
"protein_id": "ENSP00000444151.1",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 2008,
"cds_start": 1041,
"cds_end": null,
"cds_length": 6027,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 6176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_001375413.1",
"protein_id": "NP_001362342.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 2103,
"cds_start": 1041,
"cds_end": null,
"cds_length": 6312,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 7993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "ENST00000546205.5",
"protein_id": "ENSP00000446358.1",
"transcript_support_level": 5,
"aa_start": 347,
"aa_end": null,
"aa_length": 2084,
"cds_start": 1041,
"cds_end": null,
"cds_length": 6255,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 6342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_001330637.2",
"protein_id": "NP_001317566.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 2070,
"cds_start": 1041,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 7657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_003829.5",
"protein_id": "NP_003820.2",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 2041,
"cds_start": 1041,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 7734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_001261406.2",
"protein_id": "NP_001248335.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1041,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 7722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_001375416.1",
"protein_id": "NP_001362345.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1041,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 7558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_001375417.1",
"protein_id": "NP_001362346.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1041,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 7795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_001375418.1",
"protein_id": "NP_001362347.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 2037,
"cds_start": 1041,
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"cds_length": 6114,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 7756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_001261407.2",
"protein_id": "NP_001248336.1",
"transcript_support_level": null,
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"aa_end": null,
"aa_length": 2008,
"cds_start": 1041,
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"cdna_start": 1391,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_001375419.1",
"protein_id": "NP_001362348.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 2008,
"cds_start": 1041,
"cds_end": null,
"cds_length": 6027,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 7471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_001375420.1",
"protein_id": "NP_001362349.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 1041,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_001375421.1",
"protein_id": "NP_001362350.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1041,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 1959,
"cdna_end": null,
"cdna_length": 8179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_001375422.1",
"protein_id": "NP_001362351.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1041,
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"cds_length": 6003,
"cdna_start": 1761,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_001375423.1",
"protein_id": "NP_001362352.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_001375424.1",
"protein_id": "NP_001362353.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 2000,
"cds_start": 1041,
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"cdna_start": 1391,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_001375425.1",
"protein_id": "NP_001362354.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 1971,
"cds_start": 1041,
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"cdna_start": 1227,
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"cdna_length": 7360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.1041G>A",
"hgvs_p": "p.Leu347Leu",
"transcript": "NM_001375426.1",
"protein_id": "NP_001362355.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 1971,
"cds_start": 1041,
"cds_end": null,
"cds_length": 5916,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 7524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
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"phenotype_combined": "not provided",
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}
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}