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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: 12-133058771-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=133058771&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 133058771,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003428.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "NM_001289971.2",
"protein_id": "NP_001276900.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000539354.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289971.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000539354.6",
"protein_id": "ENSP00000445549.1",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001289971.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539354.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000327668.11",
"protein_id": "ENSP00000331465.7",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327668.11"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000392319.6",
"protein_id": "ENSP00000376133.2",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392319.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "NM_001127372.3",
"protein_id": "NP_001120844.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127372.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "NM_001289972.2",
"protein_id": "NP_001276901.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289972.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "NM_003428.6",
"protein_id": "NP_003419.3",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003428.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000907399.1",
"protein_id": "ENSP00000577458.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907399.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000907401.1",
"protein_id": "ENSP00000577460.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907401.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000907402.1",
"protein_id": "ENSP00000577461.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907402.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000907404.1",
"protein_id": "ENSP00000577463.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907404.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000907405.1",
"protein_id": "ENSP00000577464.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907405.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000907406.1",
"protein_id": "ENSP00000577465.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907406.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000917405.1",
"protein_id": "ENSP00000587464.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917405.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000917407.1",
"protein_id": "ENSP00000587466.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917407.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000917409.1",
"protein_id": "ENSP00000587468.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917409.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000917410.1",
"protein_id": "ENSP00000587469.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917410.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000960325.1",
"protein_id": "ENSP00000630384.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960325.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000960326.1",
"protein_id": "ENSP00000630385.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960326.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000960327.1",
"protein_id": "ENSP00000630386.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
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"cds_start": 2056,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960327.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2056A>C",
"hgvs_p": "p.Ser686Arg",
"transcript": "ENST00000960328.1",
"protein_id": "ENSP00000630387.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 738,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960328.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"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": "ZNF84",
"gene_hgnc_id": 13159,
"hgvs_c": "c.2053A>C",
"hgvs_p": "p.Ser685Arg",
"transcript": "ENST00000543758.5",
"protein_id": "ENSP00000437949.1",
"transcript_support_level": 5,
"aa_start": 685,
"aa_end": null,
"aa_length": 737,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
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}
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}