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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: 19-51965226-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51965226&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51965226,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_021632.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"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.1227A>C",
"hgvs_p": "p.Lys409Asn",
"transcript": "NM_021632.4",
"protein_id": "NP_067645.3",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000243644.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021632.4"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1227A>C",
"hgvs_p": "p.Lys409Asn",
"transcript": "ENST00000243644.9",
"protein_id": "ENSP00000243644.3",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021632.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243644.9"
},
{
"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.125-11165T>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000595010.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1296A>C",
"hgvs_p": "p.Lys432Asn",
"transcript": "ENST00000853589.1",
"protein_id": "ENSP00000523648.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 555,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853589.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1227A>C",
"hgvs_p": "p.Lys409Asn",
"transcript": "ENST00000853590.1",
"protein_id": "ENSP00000523649.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853590.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1227A>C",
"hgvs_p": "p.Lys409Asn",
"transcript": "ENST00000853591.1",
"protein_id": "ENSP00000523650.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853591.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1227A>C",
"hgvs_p": "p.Lys409Asn",
"transcript": "ENST00000853592.1",
"protein_id": "ENSP00000523651.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853592.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1227A>C",
"hgvs_p": "p.Lys409Asn",
"transcript": "ENST00000853593.1",
"protein_id": "ENSP00000523652.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853593.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1227A>C",
"hgvs_p": "p.Lys409Asn",
"transcript": "ENST00000934229.1",
"protein_id": "ENSP00000604288.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934229.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1227A>C",
"hgvs_p": "p.Lys409Asn",
"transcript": "ENST00000934230.1",
"protein_id": "ENSP00000604289.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934230.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1227A>C",
"hgvs_p": "p.Lys409Asn",
"transcript": "ENST00000970659.1",
"protein_id": "ENSP00000640718.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970659.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1227A>C",
"hgvs_p": "p.Lys409Asn",
"transcript": "ENST00000970660.1",
"protein_id": "ENSP00000640719.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970660.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1227A>C",
"hgvs_p": "p.Lys409Asn",
"transcript": "ENST00000970661.1",
"protein_id": "ENSP00000640720.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970661.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1227A>C",
"hgvs_p": "p.Lys409Asn",
"transcript": "ENST00000970662.1",
"protein_id": "ENSP00000640721.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970662.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1353A>C",
"hgvs_p": "p.Lys451Asn",
"transcript": "XM_017027094.2",
"protein_id": "XP_016882583.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 574,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027094.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1353A>C",
"hgvs_p": "p.Lys451Asn",
"transcript": "XM_017027096.2",
"protein_id": "XP_016882585.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 574,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027096.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1353A>C",
"hgvs_p": "p.Lys451Asn",
"transcript": "XM_047439182.1",
"protein_id": "XP_047295138.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 574,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439182.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1353A>C",
"hgvs_p": "p.Lys451Asn",
"transcript": "XM_047439183.1",
"protein_id": "XP_047295139.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 574,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439183.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1227A>C",
"hgvs_p": "p.Lys409Asn",
"transcript": "XM_017027098.2",
"protein_id": "XP_016882587.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027098.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1227A>C",
"hgvs_p": "p.Lys409Asn",
"transcript": "XM_017027099.2",
"protein_id": "XP_016882588.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027099.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1227A>C",
"hgvs_p": "p.Lys409Asn",
"transcript": "XM_017027100.1",
"protein_id": "XP_016882589.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027100.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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.1227A>C",
"hgvs_p": "p.Lys409Asn",
"transcript": "XM_047439184.1",
"protein_id": "XP_047295140.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 532,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
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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
}