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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: 19-8812596-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8812596&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 8812596,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_144693.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "NM_144693.3",
"protein_id": "NP_653294.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000601372.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144693.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000601372.6",
"protein_id": "ENSP00000471277.1",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144693.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601372.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000301475.1",
"protein_id": "ENSP00000301475.1",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301475.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000869419.1",
"protein_id": "ENSP00000539478.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869419.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000869421.1",
"protein_id": "ENSP00000539480.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869421.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000869422.1",
"protein_id": "ENSP00000539481.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869422.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000869423.1",
"protein_id": "ENSP00000539482.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869423.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000971724.1",
"protein_id": "ENSP00000641783.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971724.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000971725.1",
"protein_id": "ENSP00000641784.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971725.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000971726.1",
"protein_id": "ENSP00000641785.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971726.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000971727.1",
"protein_id": "ENSP00000641786.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971727.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000971728.1",
"protein_id": "ENSP00000641787.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971728.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000971729.1",
"protein_id": "ENSP00000641788.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971729.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000971730.1",
"protein_id": "ENSP00000641789.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971730.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000971731.1",
"protein_id": "ENSP00000641790.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971731.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000971732.1",
"protein_id": "ENSP00000641791.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971732.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000971733.1",
"protein_id": "ENSP00000641792.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971733.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000971734.1",
"protein_id": "ENSP00000641793.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971734.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "ENST00000971735.1",
"protein_id": "ENSP00000641794.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971735.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.370G>A",
"hgvs_p": "p.Val124Ile",
"transcript": "ENST00000869420.1",
"protein_id": "ENSP00000539479.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 395,
"cds_start": 370,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869420.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"transcript": "NM_001304350.2",
"protein_id": "NP_001291279.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 331,
"cds_start": 178,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304350.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF558",
"gene_hgnc_id": 26422,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"transcript": "XM_024451386.2",
"protein_id": "XP_024307154.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 402,
"cds_start": 391,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"phenotype_combined": "not specified",
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}
],
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}