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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: 19-37127217-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=37127217&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 37127217,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001329515.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"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": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Leu76Phe",
"transcript": "NM_144689.5",
"protein_id": "NP_653290.2",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 688,
"cds_start": 226,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337995.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144689.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Leu76Phe",
"transcript": "ENST00000337995.4",
"protein_id": "ENSP00000338770.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 688,
"cds_start": 226,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144689.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337995.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267360",
"gene_hgnc_id": null,
"hgvs_c": "c.253+28648G>A",
"hgvs_p": null,
"transcript": "ENST00000588873.1",
"protein_id": "ENSP00000465212.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": null,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588873.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Leu76Phe",
"transcript": "NM_001329515.3",
"protein_id": "NP_001316444.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 704,
"cds_start": 226,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329515.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Leu76Phe",
"transcript": "ENST00000876809.1",
"protein_id": "ENSP00000546868.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 688,
"cds_start": 226,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876809.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Leu76Phe",
"transcript": "ENST00000876810.1",
"protein_id": "ENSP00000546869.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 688,
"cds_start": 226,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876810.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Leu76Phe",
"transcript": "ENST00000876811.1",
"protein_id": "ENSP00000546870.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 688,
"cds_start": 226,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876811.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Leu76Phe",
"transcript": "ENST00000960579.1",
"protein_id": "ENSP00000630638.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 688,
"cds_start": 226,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960579.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Leu76Phe",
"transcript": "ENST00000960580.1",
"protein_id": "ENSP00000630639.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 688,
"cds_start": 226,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960580.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Leu76Phe",
"transcript": "NM_001329516.3",
"protein_id": "NP_001316445.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 648,
"cds_start": 226,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329516.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Leu5Phe",
"transcript": "NM_001329517.1",
"protein_id": "NP_001316446.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 617,
"cds_start": 13,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329517.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Leu5Phe",
"transcript": "NM_001329518.1",
"protein_id": "NP_001316447.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 617,
"cds_start": 13,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329518.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Leu5Phe",
"transcript": "NM_001329519.1",
"protein_id": "NP_001316448.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 617,
"cds_start": 13,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329519.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Leu5Phe",
"transcript": "NM_001329520.1",
"protein_id": "NP_001316449.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 617,
"cds_start": 13,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329520.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Leu5Phe",
"transcript": "NM_001329521.3",
"protein_id": "NP_001316450.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 577,
"cds_start": 13,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329521.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Leu76Phe",
"transcript": "NM_001329522.3",
"protein_id": "NP_001316451.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 536,
"cds_start": 226,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329522.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Leu76Phe",
"transcript": "ENST00000304239.11",
"protein_id": "ENSP00000306102.7",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 536,
"cds_start": 226,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304239.11"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Leu5Phe",
"transcript": "NM_001329524.3",
"protein_id": "NP_001316453.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 409,
"cds_start": 13,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329524.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Leu76Phe",
"transcript": "ENST00000589245.5",
"protein_id": "ENSP00000467772.1",
"transcript_support_level": 4,
"aa_start": 76,
"aa_end": null,
"aa_length": 162,
"cds_start": 226,
"cds_end": null,
"cds_length": 490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589245.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Leu76Phe",
"transcript": "ENST00000587029.5",
"protein_id": "ENSP00000466057.1",
"transcript_support_level": 4,
"aa_start": 76,
"aa_end": null,
"aa_length": 87,
"cds_start": 226,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587029.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.13C>T",
"hgvs_p": "p.Leu5Phe",
"transcript": "ENST00000590332.1",
"protein_id": "ENSP00000468387.1",
"transcript_support_level": 4,
"aa_start": 5,
"aa_end": null,
"aa_length": 78,
"cds_start": 13,
"cds_end": null,
"cds_length": 238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590332.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "ZNF420",
"gene_hgnc_id": 20649,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Leu76Phe",
"transcript": "XM_011526503.3",
"protein_id": "XP_011524805.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 688,
"cds_start": 226,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526503.3"
},
{
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"allele_count_reference_population": 0,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.7,
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{
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"criteria": [
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],
"verdict": "Likely_benign",
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"effects": [
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],
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{
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000588873.1",
"gene_symbol": "ENSG00000267360",
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"effects": [
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],
"inheritance_mode": "",
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},
{
"score": -2,
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000587817.5",
"gene_symbol": "ZNF585A",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}