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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: 7-76480765-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=76480765&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 76480765,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020892.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "NM_001102594.3",
"protein_id": "NP_001096064.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000430490.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001102594.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000430490.7",
"protein_id": "ENSP00000411986.2",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001102594.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430490.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000324432.9",
"protein_id": "ENSP00000322885.5",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324432.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000413936.6",
"protein_id": "ENSP00000390218.2",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413936.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000446820.6",
"protein_id": "ENSP00000392545.2",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 575,
"cds_start": 256,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446820.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000899012.1",
"protein_id": "ENSP00000569071.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 634,
"cds_start": 256,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899012.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000920553.1",
"protein_id": "ENSP00000590612.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 634,
"cds_start": 256,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920553.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000944734.1",
"protein_id": "ENSP00000614793.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 634,
"cds_start": 256,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944734.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "NM_001102595.3",
"protein_id": "NP_001096065.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001102595.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "NM_020892.4",
"protein_id": "NP_065943.2",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020892.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000899001.1",
"protein_id": "ENSP00000569060.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899001.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000899002.1",
"protein_id": "ENSP00000569061.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899002.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000899004.1",
"protein_id": "ENSP00000569063.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899004.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000899005.1",
"protein_id": "ENSP00000569064.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899005.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000899006.1",
"protein_id": "ENSP00000569065.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899006.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000899007.1",
"protein_id": "ENSP00000569066.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899007.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000899008.1",
"protein_id": "ENSP00000569067.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899008.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000899011.1",
"protein_id": "ENSP00000569070.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899011.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000899013.1",
"protein_id": "ENSP00000569072.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899013.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000899015.1",
"protein_id": "ENSP00000569074.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899015.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000899017.1",
"protein_id": "ENSP00000569076.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899017.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTX2",
"gene_hgnc_id": 15973,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Arg86Cys",
"transcript": "ENST00000899018.1",
"protein_id": "ENSP00000569077.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 622,
"cds_start": 256,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}