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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: 19-36818741-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36818741&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36818741,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_206894.4",
"consequences": [
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "NM_206894.4",
"protein_id": "NP_996777.2",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": "ENST00000356725.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206894.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "ENST00000356725.9",
"protein_id": "ENSP00000349161.3",
"transcript_support_level": 2,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": "NM_206894.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356725.9"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "NM_001242800.2",
"protein_id": "NP_001229729.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 3082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242800.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "NM_001242801.2",
"protein_id": "NP_001229730.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242801.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "NM_001242802.2",
"protein_id": "NP_001229731.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 3345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242802.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "ENST00000613249.4",
"protein_id": "ENSP00000480764.1",
"transcript_support_level": 4,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613249.4"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "ENST00000614179.4",
"protein_id": "ENSP00000480834.1",
"transcript_support_level": 3,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614179.4"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "ENST00000615484.4",
"protein_id": "ENSP00000478852.1",
"transcript_support_level": 5,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615484.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "ENST00000867320.1",
"protein_id": "ENSP00000537379.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 2033,
"cdna_end": null,
"cdna_length": 3346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867320.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "ENST00000867321.1",
"protein_id": "ENSP00000537380.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867321.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "ENST00000867322.1",
"protein_id": "ENSP00000537381.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 3431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867322.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "ENST00000867323.1",
"protein_id": "ENSP00000537382.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867323.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "ENST00000932990.1",
"protein_id": "ENSP00000603049.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 2086,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": null,
"mane_plus": null,
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},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "ENST00000951466.1",
"protein_id": "ENSP00000621525.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1813,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951466.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "ENST00000951468.1",
"protein_id": "ENSP00000621527.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 2645,
"cdna_end": null,
"cdna_length": 4246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951468.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1507G>A",
"hgvs_p": "p.Val503Ile",
"transcript": "ENST00000951467.1",
"protein_id": "ENSP00000621526.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 604,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951467.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.1705G>A",
"hgvs_p": "p.Val569Ile",
"transcript": "XM_047438798.1",
"protein_id": "XP_047294754.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 670,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1796,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438798.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "XM_005258903.6",
"protein_id": "XP_005258960.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
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"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258903.6"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "XM_011526950.4",
"protein_id": "XP_011525252.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
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"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526950.4"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "XM_047438799.1",
"protein_id": "XP_047294755.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
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"cdna_start": 1814,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438799.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "XM_047438800.1",
"protein_id": "XP_047294756.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 3404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438800.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF790",
"gene_hgnc_id": 33114,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Ile",
"transcript": "XM_047438801.1",
"protein_id": "XP_047294757.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 636,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1911,
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}