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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: X-102715156-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=102715156&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 102715156,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138437.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "NM_001004051.4",
"protein_id": "NP_001004051.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000483720.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004051.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "ENST00000483720.7",
"protein_id": "ENSP00000507692.1",
"transcript_support_level": 2,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001004051.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483720.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "ENST00000332262.10",
"protein_id": "ENSP00000339057.3",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332262.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARMCX5-GPRASP2",
"gene_hgnc_id": 42000,
"hgvs_c": "c.-756+890C>T",
"hgvs_p": null,
"transcript": "ENST00000652409.1",
"protein_id": "ENSP00000498643.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 547,
"cds_start": null,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652409.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "NM_001184874.3",
"protein_id": "NP_001171803.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184874.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "NM_001184875.3",
"protein_id": "NP_001171804.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184875.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "NM_001184876.3",
"protein_id": "NP_001171805.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184876.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX5-GPRASP2",
"gene_hgnc_id": 42000,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "NM_001199818.1",
"protein_id": "NP_001186747.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199818.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "NM_138437.6",
"protein_id": "NP_612446.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138437.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "ENST00000486814.2",
"protein_id": "ENSP00000508139.1",
"transcript_support_level": 3,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486814.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "ENST00000535209.6",
"protein_id": "ENSP00000437394.1",
"transcript_support_level": 4,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535209.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "ENST00000543253.6",
"protein_id": "ENSP00000437872.1",
"transcript_support_level": 4,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543253.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "ENST00000907057.1",
"protein_id": "ENSP00000577116.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907057.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "ENST00000907058.1",
"protein_id": "ENSP00000577117.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907058.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "ENST00000907059.1",
"protein_id": "ENSP00000577118.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907059.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "ENST00000907060.1",
"protein_id": "ENSP00000577119.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907060.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "ENST00000907061.1",
"protein_id": "ENSP00000577120.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907061.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "ENST00000907062.1",
"protein_id": "ENSP00000577121.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907062.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "ENST00000907063.1",
"protein_id": "ENSP00000577122.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907063.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "ENST00000907064.1",
"protein_id": "ENSP00000577123.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907064.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "ENST00000907065.1",
"protein_id": "ENSP00000577124.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907065.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP2",
"gene_hgnc_id": 25169,
"hgvs_c": "c.287C>T",
"hgvs_p": "p.Ala96Val",
"transcript": "ENST00000907066.1",
"protein_id": "ENSP00000577125.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 838,
"cds_start": 287,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"phenotype_combined": "not specified",
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}
],
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}