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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: 19-51964950-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51964950&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51964950,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000243644.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"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": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1503A>C",
"hgvs_p": "p.Arg501Ser",
"transcript": "NM_021632.4",
"protein_id": "NP_067645.3",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 532,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": "ENST00000243644.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1503A>C",
"hgvs_p": "p.Arg501Ser",
"transcript": "ENST00000243644.9",
"protein_id": "ENSP00000243644.3",
"transcript_support_level": 1,
"aa_start": 501,
"aa_end": null,
"aa_length": 532,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": "NM_021632.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.125-11441T>G",
"hgvs_p": null,
"transcript": "ENST00000595010.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1629A>C",
"hgvs_p": "p.Arg543Ser",
"transcript": "XM_017027094.2",
"protein_id": "XP_016882583.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 574,
"cds_start": 1629,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1871,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1629A>C",
"hgvs_p": "p.Arg543Ser",
"transcript": "XM_017027096.2",
"protein_id": "XP_016882585.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 574,
"cds_start": 1629,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1629A>C",
"hgvs_p": "p.Arg543Ser",
"transcript": "XM_047439182.1",
"protein_id": "XP_047295138.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 574,
"cds_start": 1629,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 2119,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1629A>C",
"hgvs_p": "p.Arg543Ser",
"transcript": "XM_047439183.1",
"protein_id": "XP_047295139.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 574,
"cds_start": 1629,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1503A>C",
"hgvs_p": "p.Arg501Ser",
"transcript": "XM_017027098.2",
"protein_id": "XP_016882587.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 532,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1503A>C",
"hgvs_p": "p.Arg501Ser",
"transcript": "XM_017027099.2",
"protein_id": "XP_016882588.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 532,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1503A>C",
"hgvs_p": "p.Arg501Ser",
"transcript": "XM_017027100.1",
"protein_id": "XP_016882589.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 532,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1503A>C",
"hgvs_p": "p.Arg501Ser",
"transcript": "XM_047439184.1",
"protein_id": "XP_047295140.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 532,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2333,
"cdna_end": null,
"cdna_length": 2943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1503A>C",
"hgvs_p": "p.Arg501Ser",
"transcript": "XM_047439185.1",
"protein_id": "XP_047295141.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 532,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.825A>C",
"hgvs_p": "p.Arg275Ser",
"transcript": "XM_047439186.1",
"protein_id": "XP_047295142.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 306,
"cds_start": 825,
"cds_end": null,
"cds_length": 921,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.825A>C",
"hgvs_p": "p.Arg275Ser",
"transcript": "XM_047439187.1",
"protein_id": "XP_047295143.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 306,
"cds_start": 825,
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"cdna_start": 1338,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.825A>C",
"hgvs_p": "p.Arg275Ser",
"transcript": "XM_047439188.1",
"protein_id": "XP_047295144.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 306,
"cds_start": 825,
"cds_end": null,
"cds_length": 921,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.103-11441T>G",
"hgvs_p": null,
"transcript": "ENST00000600253.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.92-11441T>G",
"hgvs_p": null,
"transcript": "ENST00000658402.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.90-11441T>G",
"hgvs_p": null,
"transcript": "ENST00000661211.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.109-11023T>G",
"hgvs_p": null,
"transcript": "ENST00000692818.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.114+15715T>G",
"hgvs_p": null,
"transcript": "ENST00000797553.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.54-6146T>G",
"hgvs_p": null,
"transcript": "ENST00000797554.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.140-11441T>G",
"hgvs_p": null,
"transcript": "ENST00000797555.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.49-11441T>G",
"hgvs_p": null,
"transcript": "ENST00000797556.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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{
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"verdict": "Uncertain_significance",
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{
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],
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"custom_annotations": null
}
],
"message": null
}