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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: 19-43665373-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43665373&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 43665373,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002659.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "NM_002659.4",
"protein_id": "NP_002650.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 335,
"cds_start": 253,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340093.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002659.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "ENST00000340093.8",
"protein_id": "ENSP00000339328.3",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 335,
"cds_start": 253,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002659.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340093.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "ENST00000221264.8",
"protein_id": "ENSP00000221264.3",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 290,
"cds_start": 253,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221264.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "ENST00000601723.5",
"protein_id": "ENSP00000471881.1",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 286,
"cds_start": 253,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601723.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "ENST00000339082.7",
"protein_id": "ENSP00000342049.2",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 281,
"cds_start": 253,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339082.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Ile90Val",
"transcript": "ENST00000947455.1",
"protein_id": "ENSP00000617514.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 340,
"cds_start": 268,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947455.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "ENST00000856984.1",
"protein_id": "ENSP00000527043.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 334,
"cds_start": 250,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856984.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.247A>G",
"hgvs_p": "p.Ile83Val",
"transcript": "ENST00000947452.1",
"protein_id": "ENSP00000617511.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 333,
"cds_start": 247,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947452.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "ENST00000947454.1",
"protein_id": "ENSP00000617513.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 332,
"cds_start": 253,
"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": "ENST00000947454.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.268A>G",
"hgvs_p": "p.Ile90Val",
"transcript": "ENST00000947453.1",
"protein_id": "ENSP00000617512.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 295,
"cds_start": 268,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947453.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "NM_001005377.3",
"protein_id": "NP_001005377.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 290,
"cds_start": 253,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005377.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "NM_001301037.2",
"protein_id": "NP_001287966.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 286,
"cds_start": 253,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301037.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "ENST00000927182.1",
"protein_id": "ENSP00000597241.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 285,
"cds_start": 250,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927182.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "NM_001005376.3",
"protein_id": "NP_001005376.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 281,
"cds_start": 253,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005376.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "ENST00000947451.1",
"protein_id": "ENSP00000617510.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 241,
"cds_start": 253,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947451.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "ENST00000947456.1",
"protein_id": "ENSP00000617515.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 236,
"cds_start": 253,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947456.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.178A>G",
"hgvs_p": "p.Ile60Val",
"transcript": "ENST00000599892.5",
"protein_id": "ENSP00000470029.1",
"transcript_support_level": 2,
"aa_start": 60,
"aa_end": null,
"aa_length": 225,
"cds_start": 178,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599892.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.178A>G",
"hgvs_p": "p.Ile60Val",
"transcript": "ENST00000602141.5",
"protein_id": "ENSP00000471241.1",
"transcript_support_level": 5,
"aa_start": 60,
"aa_end": null,
"aa_length": 151,
"cds_start": 178,
"cds_end": null,
"cds_length": 458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602141.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.238A>G",
"hgvs_p": "p.Ile80Val",
"transcript": "ENST00000593939.5",
"protein_id": "ENSP00000472511.1",
"transcript_support_level": 3,
"aa_start": 80,
"aa_end": null,
"aa_length": 151,
"cds_start": 238,
"cds_end": null,
"cds_length": 457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593939.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.220A>G",
"hgvs_p": "p.Ile74Val",
"transcript": "ENST00000599546.1",
"protein_id": "ENSP00000468863.1",
"transcript_support_level": 3,
"aa_start": 74,
"aa_end": null,
"aa_length": 77,
"cds_start": 220,
"cds_end": null,
"cds_length": 236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599546.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "XM_047438925.1",
"protein_id": "XP_047294881.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 335,
"cds_start": 253,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438925.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAUR",
"gene_hgnc_id": 9053,
"hgvs_c": "c.238A>G",
"hgvs_p": "p.Ile80Val",
"transcript": "XM_017026872.3",
"protein_id": "XP_016882361.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 330,
"cds_start": 238,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026872.3"
},
{
"aa_ref": "I",
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}
],
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}