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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: 19-36818816-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36818816&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36818816,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_206894.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "NM_206894.4",
"protein_id": "NP_996777.2",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356725.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206894.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "ENST00000356725.9",
"protein_id": "ENSP00000349161.3",
"transcript_support_level": 2,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_206894.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356725.9"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "NM_001242800.2",
"protein_id": "NP_001229729.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242800.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "NM_001242801.2",
"protein_id": "NP_001229730.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242801.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "NM_001242802.2",
"protein_id": "NP_001229731.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242802.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "ENST00000613249.4",
"protein_id": "ENSP00000480764.1",
"transcript_support_level": 4,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613249.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "ENST00000614179.4",
"protein_id": "ENSP00000480834.1",
"transcript_support_level": 3,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614179.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "ENST00000615484.4",
"protein_id": "ENSP00000478852.1",
"transcript_support_level": 5,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615484.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "ENST00000867320.1",
"protein_id": "ENSP00000537379.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867320.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "ENST00000867321.1",
"protein_id": "ENSP00000537380.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867321.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "ENST00000867322.1",
"protein_id": "ENSP00000537381.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867322.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "ENST00000867323.1",
"protein_id": "ENSP00000537382.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867323.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "ENST00000932990.1",
"protein_id": "ENSP00000603049.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932990.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "ENST00000951466.1",
"protein_id": "ENSP00000621525.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951466.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "ENST00000951468.1",
"protein_id": "ENSP00000621527.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951468.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1432G>C",
"hgvs_p": "p.Glu478Gln",
"transcript": "ENST00000951467.1",
"protein_id": "ENSP00000621526.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 604,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951467.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1630G>C",
"hgvs_p": "p.Glu544Gln",
"transcript": "XM_047438798.1",
"protein_id": "XP_047294754.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 670,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438798.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "XM_005258903.6",
"protein_id": "XP_005258960.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258903.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "XM_011526950.4",
"protein_id": "XP_011525252.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526950.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "XM_047438799.1",
"protein_id": "XP_047294755.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438799.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "XM_047438800.1",
"protein_id": "XP_047294756.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438800.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1528G>C",
"hgvs_p": "p.Glu510Gln",
"transcript": "XM_047438801.1",
"protein_id": "XP_047294757.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 636,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_206894.4",
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"effects": [
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{
"score": 0,
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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],
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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
}